Variant report

Variant	esv3444763
Chromosome Location	chr6:34201999-34204747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:755)
CpG islands
(count:672)
Chromatin interactive
region (count:50)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:755 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:34204650-34204885	K562	blood:	n/a	n/a
2	ARID3A	chr6:34203901-34204096	K562	blood:	n/a	n/a
3	ARID3A	chr6:34204672-34204939	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:34204026-34204141	HepG2	liver:	n/a	n/a
5	ATF2	chr6:34203931-34205103	GM12878	blood:	n/a	n/a
6	ATF2	chr6:34203276-34204643	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr6:34203884-34204262	GM12878	blood:	n/a	n/a
8	ATF2	chr6:34203212-34204748	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr6:34201901-34202934	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr6:34204275-34204601	GM12878	blood:	n/a	n/a
11	ATF3	chr6:34204228-34204739	K562	blood:	n/a	chr6:34204588-34204597
12	ATF3	chr6:34203296-34203735	K562	blood:	n/a	n/a
13	BACH1	chr6:34202422-34204707	H1-hESC	embryonic stem cell:	n/a	chr6:34203549-34203563
14	BACH1	chr6:34203470-34204683	K562	blood:	n/a	chr6:34203549-34203563
15	BATF	chr6:34204281-34204556	GM12878	blood:	n/a	n/a
16	BATF	chr6:34204030-34204219	GM12878	blood:	n/a	chr6:34204065-34204073
17	BCL11A	chr6:34204248-34204585	GM12878	blood:	n/a	n/a
18	BCL11A	chr6:34204551-34204762	GM12878	blood:	n/a	n/a
19	BCL3	chr6:34203369-34204260	K562	blood:	n/a	chr6:34203414-34203427 chr6:34203434-34203443
20	BCL3	chr6:34203373-34203712	A549	lung:	n/a	chr6:34203414-34203427 chr6:34203434-34203443
21	BCL3	chr6:34204235-34205090	GM12878	blood:	n/a	chr6:34204938-34204947 chr6:34204935-34204944 chr6:34204934-34204947
22	BCLAF1	chr6:34203716-34204767	GM12878	blood:	n/a	n/a
23	BCLAF1	chr6:34203355-34204135	K562	blood:	n/a	chr6:34203414-34203427 chr6:34203434-34203443
24	BCLAF1	chr6:34203209-34205104	K562	blood:	n/a	chr6:34204938-34204947 chr6:34203272-34203281 chr6:34203414-34203427 chr6:34203434-34203443 chr6:34204935-34204944 chr6:34204934-34204947
25	BCLAF1	chr6:34203336-34205094	GM12878	blood:	n/a	chr6:34204938-34204947 chr6:34203414-34203427 chr6:34203434-34203443 chr6:34204935-34204944 chr6:34204934-34204947
26	BHLHE40	chr6:34203289-34203573	A549	lung:	n/a	n/a
27	BHLHE40	chr6:34204417-34204945	HepG2	liver:	n/a	chr6:34204607-34204623 chr6:34204910-34204926
28	BHLHE40	chr6:34203081-34204903	K562	blood:	n/a	chr6:34204607-34204623
29	BHLHE40	chr6:34203088-34205165	GM12878	blood:	n/a	chr6:34204607-34204623 chr6:34204910-34204926
30	BRCA1	chr6:34204348-34204764	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr6:34204293-34204485	HepG2	liver:	n/a	n/a
32	BRCA1	chr6:34203804-34204119	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr6:34203510-34203773	Hela-S3	cervix:	n/a	n/a
34	CBX3	chr6:34202931-34204843	K562	blood:	n/a	n/a
35	CBX3	chr6:34203639-34204160	K562	blood:	n/a	n/a
36	CBX3	chr6:34204274-34204560	K562	blood:	n/a	n/a
37	CCNT2	chr6:34202690-34206370	K562	blood:	n/a	chr6:34202983-34202992 chr6:34204588-34204597 chr6:34203018-34203027 chr6:34203362-34203371 chr6:34205365-34205374 chr6:34205687-34205696 chr6:34203060-34203069 chr6:34204858-34204867 chr6:34205495-34205504 chr6:34203273-34203282
38	CCNT2	chr6:34202364-34202382	K562	blood:	n/a	n/a
39	CEBPB	chr6:34203415-34204271	Hela-S3	cervix:	n/a	chr6:34203984-34203992
40	CEBPB	chr6:34203558-34203641	K562	blood:	n/a	n/a
41	CEBPB	chr6:34203923-34204259	H1-hESC	embryonic stem cell:	n/a	chr6:34203984-34203992
42	CEBPB	chr6:34203843-34204274	K562	blood:	n/a	chr6:34203984-34203992
43	CEBPB	chr6:34203371-34204547	K562	blood:	n/a	chr6:34203984-34203992
44	CEBPB	chr6:34203140-34203647	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr6:34204185-34204635	GM12878	blood:	n/a	n/a
46	CEBPB	chr6:34203913-34204243	HepG2	liver:	n/a	chr6:34203984-34203992
47	CEBPB	chr6:34203892-34204254	A549	lung:	n/a	chr6:34203984-34203992
48	CEBPB	chr6:34203442-34204245	IMR90	lung:	n/a	chr6:34203984-34203992
49	CEBPD	chr6:34203221-34204925	K562	blood:	n/a	n/a
50	CEBPD	chr6:34203055-34205004	K562	blood:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:34203630-34203680	MCF-7	breast:	n/a
2	chr6:34203630-34203680	MCF-7	breast:	n/a
3	chr6:34204698-34204748	AoSMC	blood vessel:	n/a
4	chr6:34204555-34204605	NT2-D1	testis:	n/a
5	chr6:34203153-34203203	HEK293	kidney:	embryo
6	chr6:34204459-34204509	HAEpiC	amniotic membrane:	n/a
7	chr6:34203887-34203937	HNPCEpiC	eye:	n/a
8	chr6:34204459-34204509	HRE	kidney:	n/a
9	chr6:34203887-34203937	HUVEC	blood vessel:	n/a
10	chr6:34204555-34204605	AG04450	lung:	fetal
11	chr6:34203630-34203680	HMEC	breast:	n/a
12	chr6:34203153-34203203	AG04449	skin:	fetal
13	chr6:34204304-34204354	HCPEpiC	choroid plexus:	n/a
14	chr6:34204551-34204601	HEEpiC	esophagus:	n/a
15	chr6:34204555-34204605	ProgFib	skin:	n/a
16	chr6:34203153-34203203	AG04450	lung:	fetal
17	chr6:34202568-34202618	HPAEpiC	pulmonary alveolar:	n/a
18	chr6:34204304-34204354	PANC-1	pancreas:	n/a
19	chr6:34203887-34203937	AG09309	skin:	n/a
20	chr6:34203564-34203614	HepG2	liver:	n/a
21	chr6:34202568-34202618	SAEC	small airway:	n/a
22	chr6:34204551-34204601	HepG2	liver:	n/a
23	chr6:34204555-34204605	GM12892	blood:	n/a
24	chr6:34204555-34204605	HEK293	kidney:	embryo
25	chr6:34203153-34203203	ovcar-3	ovarian:	n/a
26	chr6:34203887-34203937	IMR90	lung:	fetal
27	chr6:34204555-34204605	HEEpiC	esophagus:	n/a
28	chr6:34203564-34203614	MCF-7	breast:	n/a
29	chr6:34204698-34204748	A549	lung:	n/a
30	chr6:34203630-34203680	GM06990	blood:	n/a
31	chr6:34203564-34203614	ProgFib	skin:	n/a
32	chr6:34204459-34204509	HepG2	liver:	n/a
33	chr6:34204555-34204605	HCM	heart:	n/a
34	chr6:34204459-34204509	BJ	skin:	n/a
35	chr6:34204646-34204696	NH-A	brain:	n/a
36	chr6:34204555-34204605	NHBE	bronchial:	n/a
37	chr6:34202568-34202618	AG09319	gingival:	n/a
38	chr6:34204698-34204748	Hela-S3	cervix:	n/a
39	chr6:34203564-34203614	HCT-116	colon:	n/a
40	chr6:34202568-34202618	NHDF-neo	bronchial:	n/a
41	chr6:34204551-34204601	PANC-1	pancreas:	n/a
42	chr6:34204698-34204748	ECC-1	luminal epithelium:	n/a
43	chr6:34204555-34204605	Hela-S3	cervix:	n/a
44	chr6:34202568-34202618	HL-60	blood:	n/a
45	chr6:34204555-34204605	AG04449	skin:	fetal
46	chr6:34204551-34204601	HAEpiC	amniotic membrane:	n/a
47	chr6:34204459-34204509	AG09309	skin:	n/a
48	chr6:34204698-34204748	CMK	blood:	n/a
49	chr6:34204646-34204696	GM12891	blood:	n/a
50	chr6:34204459-34204509	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:62609122..62609720-chr6:34204185..34204725,2	Hela-S3	cervix:
2	chr6:33587172..33590152-chr6:34203876..34205466,2	K562	blood:
3	chr6:34202035..34203669-chr6:34568608..34571560,2	K562	blood:
4	chr3:156392161..156392699-chr6:34204120..34204941,2	Hela-S3	cervix:
5	chr6:34204158..34206160-chr6:34249084..34250799,2	K562	blood:
6	chr6:34201904..34204640-chr6:34398634..34402211,3	K562	blood:
7	chr6:34200572..34203532-chr6:34391693..34395651,4	K562	blood:
8	chr6:34199984..34203528-chr6:34381840..34383462,3	K562	blood:
9	chr6:34201689..34203314-chr6:34391693..34393929,2	K562	blood:
10	chr6:34203866..34208750-chr6:34388488..34394053,10	MCF-7	breast:
11	chr6:27114807..27116319-chr6:34202953..34205471,2	K562	blood:
12	chr17:73775389..73776032-chr6:34203614..34204246,2	Hela-S3	cervix:
13	chr6:34201303..34203546-chr6:34292849..34294793,2	K562	blood:
14	chr15:78730134..78730654-chr6:34204413..34205121,2	Hela-S3	cervix:
15	chr13:111365203..111365774-chr6:34203417..34204256,2	Hela-S3	cervix:
16	chr6:32939896..32942243-chr6:34202585..34204574,3	K562	blood:
17	chr6:34198528..34202334-chr6:34358171..34361239,4	K562	blood:
18	chr2:174828611..174829584-chr6:34204558..34205105,2	NB4	blood:
19	chr6:34202333..34204420-chr6:34346794..34349148,2	K562	blood:
20	chr3:52017009..52017769-chr6:34203221..34204195,2	Hela-S3	cervix:
21	chr6:34204142..34204871-chr8:145734847..145735360,2	HCT-116	colon:
22	chr6:34129957..34135547-chr6:34199905..34204260,7	K562	blood:
23	chr6:34204520..34207436-chr6:34522666..34524361,2	K562	blood:
24	chr6:32937897..32939542-chr6:34204390..34205971,2	K562	blood:
25	chr6:33383299..33386120-chr6:34202398..34204899,2	K562	blood:
26	chr6:34204437..34204948-chr9:100745047..100745884,2	HCT-116	colon:
27	chr11:33061352..33062092-chr6:34204110..34205009,2	Hela-S3	cervix:
28	chr6:34202035..34205684-chr6:35227191..35229008,3	K562	blood:
29	chr1:249120210..249121150-chr6:34204127..34204729,2	Hela-S3	cervix:
30	chr6:34202383..34217863-chr6:34357259..34364960,37	K562	blood:
31	chr15:79164841..79165710-chr6:34204367..34204927,2	HCT-116	colon:
32	chr6:32935087..32937260-chr6:34203527..34205699,2	K562	blood:
33	chr6:34200640..34204018-chr6:34638884..34642541,3	K562	blood:
34	chr6:34199862..34202607-chr6:34522713..34524428,2	K562	blood:
35	chr6:34128401..34131565-chr6:34200837..34203571,3	K562	blood:
36	chr6:34203584..34206226-chr6:34392090..34394590,2	K562	blood:
37	chr6:34203144..34206658-chr6:34358641..34361602,5	MCF-7	breast:
38	chr22:42371294..42372795-chr6:34203726..34205755,2	K562	blood:
39	chr6:34203686..34207490-chr6:34388234..34395019,9	K562	blood:
40	chr6:34202852..34208935-chr6:34358420..34361531,11	K562	blood:
41	chr20:43973655..43975022-chr6:34203627..34204195,3	Hela-S3	cervix:
42	chr6:34191327..34194039-chr6:34200124..34202308,2	MCF-7	breast:
43	chr6:34204127..34204964-chr9:131790137..131790828,2	Hela-S3	cervix:
44	chr6:26030302..26034233-chr6:34203696..34206879,3	K562	blood:
45	chr6:34202622..34206817-chr6:34391790..34393979,3	MCF-7	breast:
46	chr6:34201904..34204640-chr6:34398022..34401494,3	K562	blood:
47	chr1:145611150..145611650-chr6:34204399..34204900,2	Hela-S3	cervix:
48	chr6:34202422..34206409-chr6:34359682..34362061,4	MCF-7	breast:
49	chr6:34202426..34206348-chr6:34246132..34251181,8	K562	blood:
50	chr6:34204016..34204516-chr6:86353287..86353909,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGA1-1	chr6:34203881-34204471	XLOC_005264
2	lnc-HMGA1-1	chr6:34203398-34203606	XLOC_005264

No data

Variant related genes	Relation type
HMGA1	TF binding region
HMGA1	CpG island
ENSG00000153487	chromatin interactions
ENSG00000243926	chromatin interactions
ENSG00000185787	chromatin interactions
ENSG00000096433	chromatin interactions
ENSG00000204257	chromatin interactions
ENSG00000167700	chromatin interactions
ENSG00000121848	chromatin interactions
ENSG00000136381	chromatin interactions
ENSG00000114779	chromatin interactions
ENSG00000163659	chromatin interactions
ENSG00000136938	chromatin interactions
ENSG00000223837	chromatin interactions
ENSG00000196821	chromatin interactions
ENSG00000124614	chromatin interactions
ENSG00000124664	chromatin interactions
ENSG00000270800	chromatin interactions
ENSG00000172845	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000263756	chromatin interactions
ENSG00000100167	chromatin interactions
ENSG00000135316	chromatin interactions
ENSG00000175137	chromatin interactions
ENSG00000065029	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000148341	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000264500	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000272325	chromatin interactions
ENSG00000243989	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000225339	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000112514	chromatin interactions
ENSG00000176148	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184362407	chr6:34202000-34202001	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs566314639	chr6:34202007-34202008	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs533900938	chr6:34202057-34202058	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs550097982	chr6:34202063-34202064	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs549056192	chr6:34202102-34202103	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs7741186	chr6:34202103-34202104	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs189709073	chr6:34202127-34202128	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs181346103	chr6:34202188-34202189	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs186004629	chr6:34202189-34202190	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs144347991	chr6:34202260-34202261	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs558155543	chr6:34202265-34202266	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs189201824	chr6:34202266-34202267	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs566199478	chr6:34202313-34202314	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs375841472	chr6:34202335-34202336	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs371615863	chr6:34202356-34202357	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs181892357	chr6:34202382-34202383	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs535177066	chr6:34202395-34202396	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs552920074	chr6:34202399-34202400	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs187657484	chr6:34202411-34202412	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs533699003	chr6:34202435-34202436	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs545340310	chr6:34202469-34202470	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs560101697	chr6:34202485-34202486	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs368870293	chr6:34202499-34202500	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs191966819	chr6:34202505-34202506	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs549150020	chr6:34202510-34202511	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs567363096	chr6:34202511-34202512	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs182635392	chr6:34202517-34202518	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs549981991	chr6:34202547-34202548	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs571327955	chr6:34202560-34202561	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs200295247	chr6:34202573-34202574	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs186027797	chr6:34202589-34202590	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs531565492	chr6:34202627-34202628	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs142583445	chr6:34202629-34202630	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs190005972	chr6:34202639-34202640	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs551306587	chr6:34202642-34202643	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs116904646	chr6:34202643-34202644	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs555475211	chr6:34202653-34202654	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs57863013	chr6:34202693-34202694	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544270579	chr6:34202704-34202705	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs558077399	chr6:34202741-34202742	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs556352758	chr6:34202753-34202754	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs578079125	chr6:34202766-34202767	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs112447502	chr6:34202775-34202776	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs545683735	chr6:34202778-34202779	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs560617428	chr6:34202798-34202799	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs527325790	chr6:34202802-34202803	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs182639230	chr6:34202839-34202840	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs531457875	chr6:34202847-34202848	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs549869439	chr6:34202863-34202864	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs55692303	chr6:34202879-34202880	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:106)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	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
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
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
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
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Medulloblastoma	22249617	CNVD

Chromatin state (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34192400-34202600	Weak transcription	Right Atrium	heart
2	chr6:34192400-34203400	Weak transcription	Pancreas	Pancrea
3	chr6:34192400-34203600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:34192600-34203600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:34192600-34204400	Weak transcription	HSMMtube	muscle
6	chr6:34192800-34203800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:34194400-34203400	Weak transcription	Stomach Mucosa	stomach
8	chr6:34194800-34203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:34195800-34202400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:34195800-34203400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr6:34195800-34203400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr6:34195800-34203400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:34195800-34203400	Weak transcription	A549	lung
14	chr6:34195800-34203600	Weak transcription	Spleen	Spleen
15	chr6:34196000-34202600	Weak transcription	Thymus	Thymus
16	chr6:34196400-34202600	Weak transcription	Primary B cells from cord blood	blood
17	chr6:34196600-34202400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:34197000-34202800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:34197200-34203400	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:34197400-34202400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:34197400-34202600	Weak transcription	Fetal Thymus	thymus
22	chr6:34197400-34203400	Weak transcription	K562	blood
23	chr6:34197400-34203600	Weak transcription	NHLF	lung
24	chr6:34198000-34203400	Weak transcription	GM12878-XiMat	blood
25	chr6:34198200-34203400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:34198400-34202400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:34198400-34203200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:34198800-34203400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:34198800-34203400	Weak transcription	Hela-S3	cervix
30	chr6:34199000-34202600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:34199000-34203000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:34199000-34203400	Weak transcription	Esophagus	oesophagus
33	chr6:34199000-34203400	Weak transcription	HMEC	breast
34	chr6:34199000-34203400	Weak transcription	NH-A	brain
35	chr6:34199000-34203800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:34199200-34203000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:34199200-34203400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:34199200-34203400	Weak transcription	NHEK	skin
39	chr6:34199400-34203200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr6:34199600-34203400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr6:34199600-34203600	Weak transcription	Brain Anterior Caudate	brain
42	chr6:34200200-34202600	Weak transcription	Right Ventricle	heart
43	chr6:34200400-34202200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr6:34200600-34202000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr6:34200600-34202000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr6:34200600-34202200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:34200800-34202200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:34200800-34202400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr6:34200800-34202600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:34200800-34202800	Weak transcription	Placenta	Placenta

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