Variant report

Variant	nsv1050920
Chromosome Location	chr9:72345297-72579301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2823)
CpG islands
(count:610)
Chromatin interactive
region (count:118)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2823 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:72363143-72363934	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:72367593-72367788	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:72547942-72548142	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:72492804-72493198	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:72361797-72362287	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:72374662-72375390	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:72373360-72373563	HepG2	liver:	n/a	n/a
8	ATF1	chr9:72421082-72421463	K562	blood:	n/a	n/a
9	ATF1	chr9:72551434-72551710	K562	blood:	n/a	n/a
10	ATF1	chr9:72435414-72435768	K562	blood:	n/a	n/a
11	ATF2	chr9:72374581-72375322	GM12878	blood:	n/a	n/a
12	ATF2	chr9:72374612-72374898	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr9:72435327-72435740	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr9:72561686-72562065	K562	blood:	n/a	n/a
15	ATF3	chr9:72561624-72562128	HCT-116	colon:	n/a	n/a
16	ATF3	chr9:72551440-72551684	K562	blood:	n/a	n/a
17	ATF3	chr9:72435435-72435639	K562	blood:	n/a	n/a
18	ATF3	chr9:72561761-72562186	HCT-116	colon:	n/a	n/a
19	BACH1	chr9:72386875-72387222	K562	blood:	n/a	n/a
20	BACH1	chr9:72441169-72441387	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr9:72374810-72375429	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr9:72386930-72387304	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr9:72514740-72514755	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr9:72421299-72421335	K562	blood:	n/a	n/a
25	BACH1	chr9:72435836-72435882	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr9:72361184-72361431	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr9:72408765-72408800	K562	blood:	n/a	n/a
28	BACH1	chr9:72423819-72423841	K562	blood:	n/a	n/a
29	BATF	chr9:72540793-72540973	GM12878	blood:	n/a	n/a
30	BCL3	chr9:72500239-72500884	A549	lung:	n/a	n/a
31	BCL3	chr9:72500373-72500859	A549	lung:	n/a	n/a
32	BCL3	chr9:72374941-72375380	A549	lung:	n/a	chr9:72374995-72375004 chr9:72375362-72375371
33	BCL3	chr9:72374554-72374995	GM12878	blood:	n/a	chr9:72374713-72374726 chr9:72374600-72374613 chr9:72374747-72374756 chr9:72374896-72374909
34	BCLAF1	chr9:72374362-72375253	GM12878	blood:	n/a	chr9:72374713-72374726 chr9:72374995-72375004 chr9:72374600-72374613 chr9:72374747-72374756 chr9:72374896-72374909
35	BCLAF1	chr9:72374438-72375400	GM12878	blood:	n/a	chr9:72374713-72374726 chr9:72374995-72375004 chr9:72375362-72375371 chr9:72374600-72374613 chr9:72374747-72374756 chr9:72374896-72374909
36	BHLHE40	chr9:72374558-72375184	K562	blood:	n/a	chr9:72374717-72374733
37	BHLHE40	chr9:72492881-72493119	K562	blood:	n/a	n/a
38	BHLHE40	chr9:72373912-72375320	GM12878	blood:	n/a	chr9:72374717-72374733
39	BRCA1	chr9:72374817-72374948	H1-hESC	embryonic stem cell:	n/a	n/a
40	BRCA1	chr9:72546453-72546462	H1-hESC	embryonic stem cell:	n/a	n/a
41	BRCA1	chr9:72492781-72493014	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr9:72576763-72576779	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr9:72374717-72374902	GM12878	blood:	n/a	n/a
44	BRCA1	chr9:72374762-72375287	Hela-S3	cervix:	n/a	n/a
45	CBX3	chr9:72374715-72375218	K562	blood:	n/a	n/a
46	CBX3	chr9:72513598-72514297	HCT-116	colon:	n/a	n/a
47	CBX3	chr9:72561555-72562148	HCT-116	colon:	n/a	n/a
48	CBX3	chr9:72548472-72548697	K562	blood:	n/a	n/a
49	CBX3	chr9:72427037-72427841	K562	blood:	n/a	n/a
50	CBX3	chr9:72561650-72562184	HCT-116	colon:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:72371073-72371123	HRCEpiC	kidney:	n/a
2	chr9:72436057-72436107	LNCaP	prostate:	n/a
3	chr9:72374488-72374538	ProgFib	skin:	n/a
4	chr9:72435576-72435626	K562	blood:	n/a
5	chr9:72436057-72436107	GM12892	blood:	n/a
6	chr9:72374488-72374538	GM12891	blood:	n/a
7	chr9:72434798-72434848	GM12892	blood:	n/a
8	chr9:72435533-72435583	CMK	blood:	n/a
9	chr9:72371073-72371123	NT2-D1	testis:	n/a
10	chr9:72560940-72560990	RPTEC	kidney:	n/a
11	chr9:72560940-72560990	AG04450	lung:	fetal
12	chr9:72374488-72374538	T-47D	breast:	n/a
13	chr9:72435576-72435626	HepG2	liver:	n/a
14	chr9:72514243-72514293	HEEpiC	esophagus:	n/a
15	chr9:72434798-72434848	SAEC	small airway:	n/a
16	chr9:72375599-72375649	NHDF-neo	bronchial:	n/a
17	chr9:72374488-72374538	A549	lung:	n/a
18	chr9:72374488-72374538	GM19239	blood:	n/a
19	chr9:72435576-72435626	HRE	kidney:	n/a
20	chr9:72374488-72374538	BJ	skin:	n/a
21	chr9:72434798-72434848	Jurkat	blood:	n/a
22	chr9:72375599-72375649	SAEC	small airway:	n/a
23	chr9:72435576-72435626	NB4	blood:	n/a
24	chr9:72514243-72514293	HNPCEpiC	eye:	n/a
25	chr9:72434798-72434848	AG10803	skin:	n/a
26	chr9:72375102-72375152	PrEC	prostate:	n/a
27	chr9:72435533-72435583	Hepatocyte	liver:	n/a
28	chr9:72435533-72435583	NHDF-neo	bronchial:	n/a
29	chr9:72436057-72436107	ovcar-3	ovarian:	n/a
30	chr9:72435576-72435626	AoSMC	blood vessel:	n/a
31	chr9:72435576-72435626	H1-hESC	embryonic stem cell:	embryo
32	chr9:72436057-72436107	BJ	skin:	n/a
33	chr9:72435533-72435583	GM12892	blood:	n/a
34	chr9:72434798-72434848	SKMC	muscle:	n/a
35	chr9:72375599-72375649	Hepatocyte	liver:	n/a
36	chr9:72435533-72435583	SK-N-MC	brain:	n/a
37	chr9:72375102-72375152	NB4	blood:	n/a
38	chr9:72514243-72514293	NHBE	bronchial:	n/a
39	chr9:72371073-72371123	HCF	heart:	n/a
40	chr9:72560940-72560990	HEK293	kidney:	embryo
41	chr9:72436057-72436107	K562	blood:	n/a
42	chr9:72435576-72435626	AG09319	gingival:	n/a
43	chr9:72434798-72434848	BJ	skin:	n/a
44	chr9:72560940-72560990	HRE	kidney:	n/a
45	chr9:72371073-72371123	HRE	kidney:	n/a
46	chr9:72435576-72435626	MCF10A-Er-Src	breast:	n/a
47	chr9:72514243-72514293	HRPEpiC	eye:	n/a
48	chr9:72436057-72436107	HCM	heart:	n/a
49	chr9:72560940-72560990	SK-N-MC	brain:	n/a
50	chr9:72375102-72375152	NH-A	brain:	n/a

(count:118 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:72375017..72376522-chr9:72378625..72381142,2	MCF-7	breast:
2	chr9:72113417..72115409-chr9:72425666..72428097,2	K562	blood:
3	chr9:72505375..72507864-chr9:72508984..72510952,2	K562	blood:
4	chr9:72348177..72350714-chr9:72357475..72359736,2	K562	blood:
5	chr9:72373387..72376208-chr9:72873924..72875696,2	K562	blood:
6	chr9:72375078..72376578-chr9:72378308..72381037,2	K562	blood:
7	chr9:72466770..72470991-chr9:72472018..72475663,4	K562	blood:
8	chr9:72373340..72376294-chr9:72388394..72390368,2	K562	blood:
9	chr9:72345160..72346831-chr9:72351777..72354334,2	K562	blood:
10	chr9:72480266..72482674-chr9:72527396..72529225,2	K562	blood:
11	chr9:72366292..72369666-chr9:72369993..72373484,7	K562	blood:
12	chr9:72360152..72362800-chr9:72364655..72369107,4	K562	blood:
13	chr9:72333686..72336207-chr9:72345738..72347762,3	K562	blood:
14	chr9:72369892..72372039-chr9:72377603..72379852,2	MCF-7	breast:
15	chr9:72286195..72289118-chr9:72373474..72376010,3	MCF-7	breast:
16	chr9:72437046..72439093-chr9:72448277..72451553,3	K562	blood:
17	chr9:72384593..72387645-chr9:72389728..72392732,3	K562	blood:
18	chr9:72440634..72442865-chr9:72442939..72445478,2	K562	blood:
19	chr9:72345160..72346831-chr9:72351777..72354334,2	K562	blood:
20	chr9:72424618..72427115-chr9:72429940..72433348,3	K562	blood:
21	chr9:72384593..72386711-chr9:72390096..72392732,2	K562	blood:
22	chr9:72286201..72287971-chr9:72360095..72361896,2	K562	blood:
23	chr9:72513695..72515625-chr9:72515816..72518282,2	K562	blood:
24	chr9:72505375..72507864-chr9:72508984..72510952,2	K562	blood:
25	chr9:72369892..72372039-chr9:72377603..72379852,2	MCF-7	breast:
26	chr9:72260891..72262906-chr9:72372522..72374744,2	MCF-7	breast:
27	chr9:72369991..72372114-chr9:72372371..72373981,2	K562	blood:
28	chr9:72366998..72368657-chr9:72373564..72375559,2	K562	blood:
29	chr9:72552090..72553965-chr9:72554095..72555858,2	K562	blood:
30	chr9:72364587..72367878-chr9:72369030..72373518,3	MCF-7	breast:
31	chr9:72371606..72373829-chr9:72533135..72535747,2	MCF-7	breast:
32	chr9:72443896..72446419-chr9:72448241..72450702,2	MCF-7	breast:
33	chr9:72361796..72363677-chr9:72418688..72421431,2	K562	blood:
34	chr9:72435503..72437113-chr9:72438411..72440184,2	K562	blood:
35	chr9:72375011..72377307-chr9:72377548..72379098,2	K562	blood:
36	chr9:72375017..72376522-chr9:72378625..72381142,2	MCF-7	breast:
37	chr9:72287564..72288433-chr9:72400387..72401338,3	MCF-7	breast:
38	chr9:72375765..72377296-chr9:72428952..72430591,2	K562	blood:
39	chr9:72375672..72377949-chr9:72385605..72387785,2	K562	blood:
40	chr9:72436123..72439031-chr9:72442805..72445416,2	K562	blood:
41	chr9:72351018..72353363-chr9:72366792..72368654,2	K562	blood:
42	chr9:72375765..72377296-chr9:72428952..72430591,2	K562	blood:
43	chr9:72424636..72427115-chr9:72431356..72433348,2	K562	blood:
44	chr9:72363023..72365111-chr9:72369370..72372154,2	K562	blood:
45	chr9:72371967..72374601-chr9:72378093..72381020,2	K562	blood:
46	chr9:72366292..72369666-chr9:72369993..72373484,7	K562	blood:
47	chr9:72364400..72366683-chr9:72367530..72370078,2	MCF-7	breast:
48	chr9:72333686..72336207-chr9:72345738..72347540,2	K562	blood:
49	chr9:72384593..72386711-chr9:72390096..72392732,2	K562	blood:
50	chr1:156698163..156698747-chr9:72374771..72375332,2	Hela-S3	cervix:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTAR1-2	chr9:72435469-72435583	ENSG00000225626
2	lnc-PTAR1-2	chr9:72434323-72435180	XLOC_007727
3	lnc-PTAR1-2	chr9:72435469-72435583	XLOC_007727
4	lnc-MAMDC2-3	chr9:72520870-72521143	NONHSAT131791
5	lnc-MAMDC2-3	chr9:72499969-72500038	NONHSAT131791
6	lnc-PTAR1-2	chr9:72434321-72435183	NR_038833
7	lnc-PTAR1-2	chr9:72434321-72435180	ENSG00000225626
8	lnc-C9orf135-1	chr9:72408959-72409255	XLOC_007393
9	lnc-PTAR1-2	chr9:72435566-72435655	NR_038833
10	lnc-MAMDC2-3	chr9:72435744-72435947	NONHSAT131791
11	lnc-MAMDC2-3	chr9:72501754-72501811	NONHSAT131791
12	lnc-MAMDC2-3	chr9:72471471-72471589	NONHSAT131791
13	lnc-C9orf135-1	chr9:72402048-72402118	XLOC_007393
14	lnc-MAMDC2-3	chr9:72472825-72472893	NONHSAT131791
15	lnc-PTAR1-1	chr9:72432133-72432343	XLOC_007726
16	lnc-PTAR1-2	chr9:72435473-72435599	ENSG00000225626
17	lnc-PTAR1-2	chr9:72434743-72435183	ENSG00000225626
18	lnc-PTAR1-1	chr9:72432605-72432722	XLOC_007726
19	lnc-PTAR1-3	chr9:72499279-72499566	NONHSAT131792

No data

Variant related genes	Relation type
C9orf135-AS1	TF binding region
PTAR1	TF binding region
RN7SL570P	TF binding region
C9orf135	TF binding region
C9orf135-AS1	CpG island
PTAR1	CpG island
RN7SL570P	CpG island
C9orf135	CpG island
ENSG00000242259	chromatin interactions
ENSG00000204711	chromatin interactions
ENSG00000127554	chromatin interactions
ENSG00000100084	chromatin interactions
ENSG00000268364	chromatin interactions
ENSG00000143303	chromatin interactions
ENSG00000185065	chromatin interactions
ENSG00000225626	chromatin interactions
ENSG00000261447	chromatin interactions
ENSG00000143319	chromatin interactions
ENSG00000188647	chromatin interactions
ENSG00000107282	chromatin interactions
ENSG00000198887	chromatin interactions
RPN2	miRNA target sites
CCPG1	miRNA target sites
HIBADH	miRNA target sites
C15orf24	miRNA target sites

Extended variants
information (count: 7843 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:7843 , 50 per page) page: 1 2 3 4 5 6 7 ... 157

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538270616	chr9:72345369-72345370	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs151331710	chr9:72345382-72345383	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571113807	chr9:72345398-72345399	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376020221	chr9:72345461-72345462	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535038865	chr9:72345483-72345484	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557883363	chr9:72345491-72345492	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546949029	chr9:72345513-72345514	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376291833	chr9:72345519-72345520	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77118906	chr9:72345536-72345537	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191262204	chr9:72345543-72345544	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182659627	chr9:72345544-72345545	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575340524	chr9:72345558-72345559	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs75636399	chr9:72345586-72345587	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187636372	chr9:72345601-72345602	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10511968	chr9:72345603-72345604	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs540185953	chr9:72345620-72345621	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140628676	chr9:72345623-72345624	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573637771	chr9:72345635-72345636	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs62571891	chr9:72345664-72345665	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145881384	chr9:72345676-72345677	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533098169	chr9:72345686-72345687	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574327653	chr9:72345720-72345721	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs193209791	chr9:72345737-72345738	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564550791	chr9:72345749-72345750	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs145270139	chr9:72345794-72345795	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373608775	chr9:72345799-72345800	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528703673	chr9:72345829-72345830	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185110057	chr9:72345845-72345846	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs10115266	chr9:72345854-72345855	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371959355	chr9:72345863-72345864	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568746693	chr9:72345928-72345929	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535414587	chr9:72345950-72345951	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs114645365	chr9:72345996-72345997	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs10867987	chr9:72346075-72346076	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs539579347	chr9:72346082-72346083	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs568998005	chr9:72346090-72346091	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557913757	chr9:72346115-72346116	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187494776	chr9:72346127-72346128	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533998774	chr9:72346131-72346132	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10117427	chr9:72346134-72346135	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574030676	chr9:72346204-72346205	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184084875	chr9:72346207-72346208	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs562499872	chr9:72346213-72346214	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368392787	chr9:72346221-72346222	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189736078	chr9:72346250-72346251	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138443837	chr9:72346268-72346269	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs528639041	chr9:72346302-72346303	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs34261067	chr9:72346329-72346330	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547176807	chr9:72346463-72346464	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs142951740	chr9:72346486-72346487	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Autism	21484199	CNVD
Breast cancer	22737080	CNVD
Malignant peripheral nerve sheath tumor	22811580	CNVD
Leprosy	22719964	CNVD
Primary ovarian insufficiency	22879975	CNVD
Glioma	20126413	CNVD
Malignant melanoma	17260012	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3056 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72323600-72360800	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr9:72323800-72357600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr9:72324200-72361000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:72324600-72359800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:72325000-72358800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:72325400-72346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr9:72326600-72346400	Weak transcription	Small Intestine	intestine
8	chr9:72327800-72366800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:72330000-72349600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr9:72330600-72346200	Weak transcription	Colonic Mucosa	Colon
11	chr9:72330600-72357400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:72331200-72346600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:72333400-72374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:72333600-72345400	Weak transcription	NHLF	lung
15	chr9:72335200-72350400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:72335800-72346600	Weak transcription	Fetal Intestine Small	intestine
17	chr9:72336000-72352600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr9:72336600-72359400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:72337200-72350200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:72337400-72366400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:72337600-72346600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr9:72338400-72346000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr9:72338600-72346600	Weak transcription	Gastric	stomach
24	chr9:72340200-72349800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr9:72340200-72350200	Strong transcription	Fetal Lung	lung
26	chr9:72340400-72345600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:72341600-72349200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr9:72342000-72347400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:72342000-72349000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr9:72342000-72349000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr9:72342000-72349000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr9:72342000-72349200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:72342000-72349200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr9:72342000-72349600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:72342000-72349600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:72342200-72348800	Strong transcription	Fetal Intestine Large	intestine
37	chr9:72342200-72349200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:72342200-72349400	Strong transcription	Dnd41	blood
39	chr9:72342200-72349600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr9:72342200-72350200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr9:72342200-72350200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:72342200-72350400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr9:72342200-72351200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr9:72342200-72356600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr9:72342200-72356600	Strong transcription	Fetal Thymus	thymus
46	chr9:72342200-72356800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr9:72342800-72348800	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr9:72342800-72349000	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr9:72342800-72349000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:72342800-72349200	Strong transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links