Variant report

Variant	nsv601947
Chromosome Location	chr6:31785228-31797422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1504)
CpG islands
(count:2564)
Chromatin interactive
region (count:111)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1504 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:31789559-31790328	K562	blood:	n/a	n/a
2	ARID3A	chr6:31795225-31795631	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:31792459-31792558	K562	blood:	n/a	n/a
4	ARID3A	chr6:31789668-31790448	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:31794588-31795662	K562	blood:	n/a	n/a
6	ARID3A	chr6:31787245-31788114	HepG2	liver:	n/a	n/a
7	ATF1	chr6:31794660-31795686	K562	blood:	n/a	n/a
8	ATF2	chr6:31794358-31795746	GM12878	blood:	n/a	n/a
9	ATF2	chr6:31794649-31795145	GM12878	blood:	n/a	n/a
10	ATF3	chr6:31795382-31795812	A549	lung:	n/a	chr6:31795499-31795508
11	ATF3	chr6:31789859-31790365	K562	blood:	n/a	n/a
12	BACH1	chr6:31785386-31785834	K562	blood:	n/a	n/a
13	BACH1	chr6:31789443-31790451	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr6:31786297-31786686	K562	blood:	n/a	n/a
15	BACH1	chr6:31792397-31792520	K562	blood:	n/a	n/a
16	BACH1	chr6:31789468-31790673	K562	blood:	n/a	n/a
17	BACH1	chr6:31794329-31795014	K562	blood:	n/a	n/a
18	BACH1	chr6:31795394-31795737	K562	blood:	n/a	n/a
19	BATF	chr6:31794235-31794456	GM12878	blood:	n/a	n/a
20	BATF	chr6:31790913-31791206	GM12878	blood:	n/a	n/a
21	BATF	chr6:31790913-31791165	GM12878	blood:	n/a	n/a
22	BCL3	chr6:31789851-31790455	A549	lung:	n/a	n/a
23	BCL3	chr6:31795244-31795804	A549	lung:	n/a	n/a
24	BCL3	chr6:31789904-31790513	A549	lung:	n/a	n/a
25	BCL3	chr6:31795316-31795719	A549	lung:	n/a	n/a
26	BCLAF1	chr6:31789438-31789842	GM12878	blood:	n/a	n/a
27	BCLAF1	chr6:31789404-31789831	GM12878	blood:	n/a	n/a
28	BCLAF1	chr6:31795403-31795709	GM12878	blood:	n/a	n/a
29	BCLAF1	chr6:31789863-31790333	GM12878	blood:	n/a	n/a
30	BCLAF1	chr6:31794567-31795101	GM12878	blood:	n/a	n/a
31	BHLHE40	chr6:31794646-31795591	GM12878	blood:	n/a	n/a
32	BHLHE40	chr6:31795091-31795714	HepG2	liver:	n/a	chr6:31795606-31795622
33	BHLHE40	chr6:31790049-31790304	HepG2	liver:	n/a	n/a
34	BHLHE40	chr6:31786664-31786672	HepG2	liver:	n/a	n/a
35	BHLHE40	chr6:31785580-31785672	K562	blood:	n/a	n/a
36	BHLHE40	chr6:31790847-31790948	K562	blood:	n/a	n/a
37	BHLHE40	chr6:31794492-31795740	K562	blood:	n/a	chr6:31795606-31795622
38	BHLHE40	chr6:31786444-31786786	K562	blood:	n/a	n/a
39	BHLHE40	chr6:31788984-31790556	K562	blood:	n/a	chr6:31789607-31789623
40	BHLHE40	chr6:31787427-31787627	HepG2	liver:	n/a	n/a
41	BHLHE40	chr6:31785516-31785631	GM12878	blood:	n/a	n/a
42	BRCA1	chr6:31789477-31790691	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr6:31794476-31794642	GM12878	blood:	n/a	n/a
44	BRCA1	chr6:31786117-31786480	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr6:31789588-31789670	GM12878	blood:	n/a	n/a
46	BRCA1	chr6:31795389-31795699	HepG2	liver:	n/a	n/a
47	BRCA1	chr6:31788950-31789241	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr6:31794502-31795713	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr6:31795489-31795576	GM12878	blood:	n/a	n/a
50	CBX3	chr6:31785975-31786823	K562	blood:	n/a	n/a

(count:2564 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31795003-31795053	GM06990	blood:	n/a
2	chr6:31785597-31785647	NT2-D1	testis:	n/a
3	chr6:31795003-31795053	GM06990	blood:	n/a
4	chr6:31785597-31785647	NT2-D1	testis:	n/a
5	chr6:31790106-31790156	GM06990	blood:	n/a
6	chr6:31786772-31786822	HEEpiC	esophagus:	n/a
7	chr6:31789846-31789896	AG10803	skin:	n/a
8	chr6:31794302-31794352	HAEpiC	amniotic membrane:	n/a
9	chr6:31795399-31795449	BE2_C	brain:	n/a
10	chr6:31795241-31795291	GM06990	blood:	n/a
11	chr6:31786808-31786858	HUVEC	blood vessel:	n/a
12	chr6:31786747-31786797	HPAEpiC	pulmonary alveolar:	n/a
13	chr6:31789846-31789896	MCF-7	breast:	n/a
14	chr6:31797421-31797471	HCM	heart:	n/a
15	chr6:31785597-31785647	IMR90	lung:	fetal
16	chr6:31790102-31790152	HCPEpiC	choroid plexus:	n/a
17	chr6:31795573-31795623	PFSK-1	brain:	n/a
18	chr6:31790054-31790104	NHDF-neo	bronchial:	n/a
19	chr6:31795436-31795486	HAEpiC	amniotic membrane:	n/a
20	chr6:31795392-31795442	HL-60	blood:	n/a
21	chr6:31786747-31786797	Jurkat	blood:	n/a
22	chr6:31795399-31795449	PFSK-1	brain:	n/a
23	chr6:31789985-31790035	AoSMC	blood vessel:	n/a
24	chr6:31794278-31794328	HAEpiC	amniotic membrane:	n/a
25	chr6:31785597-31785647	PANC-1	pancreas:	n/a
26	chr6:31795144-31795194	NB4	blood:	n/a
27	chr6:31786808-31786858	AoSMC	blood vessel:	n/a
28	chr6:31795638-31795688	HRE	kidney:	n/a
29	chr6:31792106-31792156	MCF10A-Er-Src	breast:	n/a
30	chr6:31795116-31795166	IMR90	lung:	fetal
31	chr6:31795195-31795245	HCPEpiC	choroid plexus:	n/a
32	chr6:31790106-31790156	SK-N-MC	brain:	n/a
33	chr6:31795116-31795166	MCF10A-Er-Src	breast:	n/a
34	chr6:31785399-31785449	HL-60	blood:	n/a
35	chr6:31795003-31795053	Hepatocyte	liver:	n/a
36	chr6:31789985-31790035	HCPEpiC	choroid plexus:	n/a
37	chr6:31790102-31790152	RPTEC	kidney:	n/a
38	chr6:31789941-31789991	HCF	heart:	n/a
39	chr6:31795171-31795221	U87	brain:	n/a
40	chr6:31795678-31795728	MCF10A-Er-Src	breast:	n/a
41	chr6:31789846-31789896	AG09309	skin:	n/a
42	chr6:31795638-31795688	NT2-D1	testis:	n/a
43	chr6:31789941-31789991	HL-60	blood:	n/a
44	chr6:31795392-31795442	ECC-1	luminal epithelium:	n/a
45	chr6:31785399-31785449	HCM	heart:	n/a
46	chr6:31795392-31795442	AG09319	gingival:	n/a
47	chr6:31795065-31795115	AG04449	skin:	fetal
48	chr6:31790694-31790744	HL-60	blood:	n/a
49	chr6:31795573-31795623	HAEpiC	amniotic membrane:	n/a
50	chr6:31795635-31795685	HUVEC	blood vessel:	n/a

(count:111 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr6:31780296..31786175-chr6:31828333..31833086,7	MCF-7	breast:
2	chr20:62258238..62258948-chr6:31794298..31794800,2	Hela-S3	cervix:
3	chr14:75745214..75745985-chr6:31795372..31795907,2	Hela-S3	cervix:
4	chr6:31646374..31649912-chr6:31794618..31797680,6	MCF-7	breast:
5	chr6:31793241..31795291-chr6:31827897..31829868,2	K562	blood:
6	chr6:31794076..31797070-chr6:31910942..31912443,2	K562	blood:
7	chr6:31795638..31797726-chr6:32161977..32163708,2	K562	blood:
8	chr17:56708850..56710382-chr6:31791349..31793381,2	MCF-7	breast:
9	chr6:31793367..31797001-chr6:32936441..32941447,5	MCF-7	breast:
10	chr10:38146501..38147130-chr6:31795044..31795963,2	Hela-S3	cervix:
11	chr6:31631646..31633919-chr6:31787959..31790422,2	MCF-7	breast:
12	chr6:31786641..31791881-chr6:31828297..31832567,10	K562	blood:
13	chr6:31795117..31796771-chr6:31916814..31918698,2	K562	blood:
14	chr5:43018130..43019042-chr6:31795467..31796002,2	Hela-S3	cervix:
15	chr6:31705000..31705864-chr6:31794301..31795092,2	Hela-S3	cervix:
16	chr6:31696500..31699406-chr6:31787400..31790891,3	MCF-7	breast:
17	chr6:31794009..31796794-chr6:31937769..31941181,3	K562	blood:
18	chr6:31756951..31764627-chr6:31780500..31799197,32	MCF-7	breast:
19	chr6:31794986..31795591-chr6:31830132..31830996,2	K562	blood:
20	chr6:31795636..31798245-chr6:31918876..31922534,3	MCF-7	breast:
21	chr6:31764794..31767222-chr6:31789462..31791730,2	MCF-7	breast:
22	chr6:31786252..31788275-chr6:31863688..31865809,2	MCF-7	breast:
23	chr6:31794734..31796775-chr6:31868219..31871084,2	MCF-7	breast:
24	chr6:31793011..31795129-chr6:31906827..31908571,2	MCF-7	breast:
25	chr6:31702928..31705468-chr6:31785607..31787464,2	MCF-7	breast:
26	chr6:31793544..31795489-chr6:31833591..31835312,2	K562	blood:
27	chr6:31790007..31791518-chr6:32120895..32123517,2	K562	blood:
28	chr19:50380060..50380616-chr6:31795080..31795682,2	Hela-S3	cervix:
29	chr6:31793907..31797035-chr6:31916814..31918857,3	K562	blood:
30	chr6:31795540..31798054-chr6:31844082..31846588,3	K562	blood:
31	chr17:61850800..61851512-chr6:31794673..31795631,2	Hela-S3	cervix:
32	chr6:31586894..31588593-chr6:31796465..31799455,2	MCF-7	breast:
33	chr6:31508352..31511076-chr6:31794765..31796870,2	MCF-7	breast:
34	chr6:31737226..31750413-chr6:31786206..31805473,50	MCF-7	breast:
35	chr6:31513245..31516542-chr6:31782394..31785632,3	MCF-7	breast:
36	chr12:51632053..51632784-chr6:31795467..31796024,2	Hela-S3	cervix:
37	chr6:31795039..31796009-chr6:33175540..33176385,2	Hela-S3	cervix:
38	chr6:31797405..31799206-chr6:31828382..31830105,2	K562	blood:
39	chr6:31695389..31697980-chr6:31796145..31797742,2	MCF-7	breast:
40	chr6:31793612..31800139-chr6:31830250..31833240,9	K562	blood:
41	chr6:31743107..31747994-chr6:31781956..31785553,7	MCF-7	breast:
42	chr6:31796169..31798718-chr6:31855458..31858224,2	MCF-7	breast:
43	chr6:31647892..31650324-chr6:31793249..31795639,4	MCF-7	breast:
44	chr14:31889308..31890174-chr6:31795417..31795943,2	Hela-S3	cervix:
45	chr6:31786539..31789498-chr6:31865115..31867548,2	MCF-7	breast:
46	chr15:30113789..30114693-chr6:31795054..31795835,2	Hela-S3	cervix:
47	chr16:87425636..87426576-chr6:31795079..31795938,2	Hela-S3	cervix:
48	chr6:31782095..31783822-chr6:31794892..31795963,5	MCF-7	breast:
49	chr5:111496508..111497358-chr6:31795058..31795974,2	NB4	blood:
50	chr17:56708769..56709349-chr6:31795029..31795669,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSPA1B-1	chr6:31789991-31790078	XLOC_005252
2	lnc-HSPA1B-1	chr6:31794980-31795104	XLOC_005252

No data

Variant related genes	Relation type
C6orf48	TF binding region
HSPA1L	TF binding region
HSPA1B	TF binding region
C6orf48	CpG island
HSPA1L	CpG island
HSPA1B	CpG island
ENSG00000236514	chromatin interactions
ENSG00000258388	chromatin interactions
ENSG00000263020	chromatin interactions
ENSG00000204227	chromatin interactions
ENSG00000254870	chromatin interactions
ENSG00000204314	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000201555	chromatin interactions
ENSG00000204421	chromatin interactions
ENSG00000204420	chromatin interactions
ENSG00000250365	chromatin interactions
ENSG00000223837	chromatin interactions
ENSG00000204394	chromatin interactions
ENSG00000198105	chromatin interactions
ENSG00000141232	chromatin interactions
ENSG00000243649	chromatin interactions
ENSG00000140988	chromatin interactions
ENSG00000204673	chromatin interactions
ENSG00000103264	chromatin interactions
ENSG00000204344	chromatin interactions
ENSG00000157693	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000258947	chromatin interactions
ENSG00000200816	chromatin interactions
ENSG00000213760	chromatin interactions
ENSG00000221988	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000263756	chromatin interactions
ENSG00000204390	chromatin interactions
ENSG00000204396	chromatin interactions
ENSG00000204498	chromatin interactions
ENSG00000225362	chromatin interactions
ENSG00000160953	chromatin interactions
ENSG00000259006	chromatin interactions
ENSG00000104064	chromatin interactions
ENSG00000204469	chromatin interactions
ENSG00000101216	chromatin interactions
ENSG00000213719	chromatin interactions
ENSG00000129493	chromatin interactions
ENSG00000122642	chromatin interactions
ENSG00000183283	chromatin interactions
ENSG00000213722	chromatin interactions
ENSG00000163393	chromatin interactions
ENSG00000145901	chromatin interactions
ENSG00000204385	chromatin interactions
ENSG00000177738	chromatin interactions
ENSG00000251131	chromatin interactions
ENSG00000204410	chromatin interactions
ENSG00000204435	chromatin interactions
ENSG00000213654	chromatin interactions
ENSG00000108588	chromatin interactions
ENSG00000213676	chromatin interactions
ENSG00000238363	chromatin interactions
ENSG00000104067	chromatin interactions
ENSG00000232442	chromatin interactions
ENSG00000204389	chromatin interactions
ENSG00000204348	chromatin interactions
ENSG00000140941	chromatin interactions
ENSG00000255198	chromatin interactions
ENSG00000204371	chromatin interactions
ENSG00000204386	chromatin interactions
ENSG00000204054	chromatin interactions
ENSG00000100441	chromatin interactions
ENSG00000224032	chromatin interactions
ENSG00000229980	chromatin interactions
ENSG00000106052	chromatin interactions
ENSG00000123130	chromatin interactions
ENSG00000198231	chromatin interactions
ENSG00000234006	chromatin interactions
ENSG00000265236	chromatin interactions
ENSG00000139899	chromatin interactions
ENSG00000166278	chromatin interactions
ENSG00000244879	chromatin interactions
ENSG00000148730	chromatin interactions
ENSG00000198563	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000204444	chromatin interactions
ENSG00000199036	chromatin interactions
ENSG00000197568	chromatin interactions
ENSG00000117906	chromatin interactions
ENSG00000255152	chromatin interactions
ENSG00000204351	chromatin interactions
ENSG00000204463	chromatin interactions
ENSG00000204366	chromatin interactions
ENSG00000204428	chromatin interactions
ENSG00000204257	chromatin interactions
ENSG00000204438	chromatin interactions
ENSG00000204301	chromatin interactions

Extended variants
information (count: 363 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs506770	chr6:31785228-31785229	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs191385827	chr6:31785252-31785253	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs199729109	chr6:31785303-31785304	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs540214133	chr6:31785308-31785309	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs561574210	chr6:31785361-31785362	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs529162552	chr6:31785431-31785432	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs562455991	chr6:31785484-31785485	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs199732319	chr6:31785489-31785490	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs532931636	chr6:31785515-31785516	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs376942723	chr6:31785544-31785545	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs551174012	chr6:31785554-31785555	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs566619820	chr6:31785597-31785598	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs368938912	chr6:31785598-31785599	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs527830727	chr6:31785599-31785600	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs549339651	chr6:31785619-31785620	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs41269729	chr6:31785675-31785676	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs567588232	chr6:31785727-31785728	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs529632338	chr6:31785744-31785745	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs538255931	chr6:31785746-31785747	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs556867428	chr6:31785748-31785749	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs571973573	chr6:31785784-31785785	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs28470887	chr6:31785792-31785793	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs554446756	chr6:31785837-31785838	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs572890175	chr6:31785894-31785895	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs539980019	chr6:31785921-31785922	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs374143339	chr6:31786014-31786015	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs564268739	chr6:31786056-31786057	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs148749101	chr6:31786077-31786078	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs9348877	chr6:31786089-31786090	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs543824056	chr6:31786135-31786136	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs142300230	chr6:31786147-31786148	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs41269737	chr6:31786182-31786183	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs560894404	chr6:31786190-31786191	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs560118963	chr6:31786225-31786226	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs17201192	chr6:31786365-31786366	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374347982	chr6:31786371-31786372	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs550207933	chr6:31786378-31786379	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs183913789	chr6:31786408-31786409	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs539385639	chr6:31786421-31786422	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs144541086	chr6:31786478-31786479	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs566174198	chr6:31786524-31786525	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs188582664	chr6:31786550-31786551	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs555137803	chr6:31786551-31786552	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs181468912	chr6:31786554-31786555	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs146632210	chr6:31786641-31786642	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs555790896	chr6:31786664-31786665	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs186588470	chr6:31786669-31786670	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs544938935	chr6:31786677-31786678	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs377307876	chr6:31786681-31786682	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs117317180	chr6:31786704-31786705	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:131)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ovarian cancer	21781307	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1722 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31783600-31785400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:31783600-31785400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:31783600-31785400	Weak transcription	Stomach Mucosa	stomach
4	chr6:31783600-31785800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:31783600-31786000	Weak transcription	Small Intestine	intestine
6	chr6:31783600-31789000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:31783800-31785400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:31783800-31785400	Weak transcription	HSMMtube	muscle
9	chr6:31783800-31785600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:31783800-31786000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:31785000-31785400	Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr6:31785000-31785400	Active TSS	Brain Hippocampus Middle	brain
13	chr6:31785000-31785400	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr6:31785000-31785400	Active TSS	HepG2	liver
15	chr6:31785000-31785600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr6:31785000-31785600	Active TSS	Brain Angular Gyrus	brain
17	chr6:31785000-31785600	Active TSS	Hela-S3	cervix
18	chr6:31785000-31785800	Active TSS	Primary monocytes fromperipheralblood	blood
19	chr6:31785000-31785800	Active TSS	Primary T cells fromperipheralblood	blood
20	chr6:31785000-31785800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:31785000-31785800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:31785000-31785800	Active TSS	Pancreas	Pancrea
23	chr6:31785000-31785800	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr6:31785000-31786000	Active TSS	Brain Anterior Caudate	brain
25	chr6:31785000-31786000	Active TSS	Brain Cingulate Gyrus	brain
26	chr6:31785000-31786000	Active TSS	Spleen	Spleen
27	chr6:31785000-31786200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:31785000-31786200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:31785000-31786200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:31785000-31786200	Active TSS	Right Ventricle	heart
31	chr6:31785000-31786600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:31785000-31786600	Active TSS	Left Ventricle	heart
33	chr6:31785000-31786800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:31785000-31787000	Active TSS	Brain Substantia Nigra	brain
35	chr6:31785000-31787000	Active TSS	Esophagus	oesophagus
36	chr6:31785000-31787000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr6:31785000-31787000	Active TSS	HMEC	breast
38	chr6:31785000-31787800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr6:31785000-31787800	Active TSS	Brain Germinal Matrix	brain
40	chr6:31785200-31785400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:31785200-31785400	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:31785200-31785400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:31785200-31785400	Enhancers	Primary B cells from cord blood	blood
44	chr6:31785200-31785400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:31785200-31785400	Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr6:31785200-31785400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:31785200-31785400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr6:31785200-31785400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:31785200-31785400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:31785200-31785400	Flanking Active TSS	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links