Variant report

Variant	esv3325582
Chromosome Location	chr6:31868623-31870971
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:612)
CpG islands
(count:2807)
Chromatin interactive
region (count:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:31869858-31870541	HepG2	liver:	n/a	n/a
2	ATF2	chr6:31869763-31870212	GM12878	blood:	n/a	n/a
3	ATF2	chr6:31869758-31870167	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr6:31869336-31870597	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr6:31869616-31869784	K562	blood:	n/a	n/a
6	BCL3	chr6:31869271-31870396	GM12878	blood:	n/a	chr6:31869712-31869725 chr6:31869468-31869477 chr6:31869780-31869789 chr6:31870205-31870218 chr6:31869292-31869305 chr6:31870203-31870216 chr6:31869312-31869325 chr6:31869514-31869523
7	BCL3	chr6:31869825-31870455	A549	lung:	n/a	chr6:31870205-31870218 chr6:31870203-31870216
8	BCLAF1	chr6:31869760-31870326	GM12878	blood:	n/a	chr6:31869780-31869789 chr6:31870205-31870218 chr6:31870203-31870216
9	BHLHE40	chr6:31868935-31869016	K562	blood:	n/a	n/a
10	BHLHE40	chr6:31869353-31870389	GM12878	blood:	n/a	chr6:31870210-31870226 chr6:31869776-31869792 chr6:31870202-31870218
11	BHLHE40	chr6:31869276-31870379	K562	blood:	n/a	chr6:31870210-31870226 chr6:31869776-31869792 chr6:31870202-31870218
12	BHLHE40	chr6:31869617-31870384	HepG2	liver:	n/a	chr6:31870210-31870226 chr6:31869776-31869792 chr6:31870202-31870218
13	BRCA1	chr6:31869852-31870059	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr6:31870083-31870120	HepG2	liver:	n/a	n/a
15	BRCA1	chr6:31869862-31870110	H1-hESC	embryonic stem cell:	n/a	n/a
16	CBX3	chr6:31869669-31870237	K562	blood:	n/a	n/a
17	CBX3	chr6:31868572-31869586	K562	blood:	n/a	n/a
18	CCNT2	chr6:31869146-31870414	K562	blood:	n/a	chr6:31869655-31869664 chr6:31869774-31869783 chr6:31869236-31869245 chr6:31869577-31869586 chr6:31869288-31869297 chr6:31869440-31869449 chr6:31869779-31869788
19	CEBPB	chr6:31869824-31870477	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr6:31869816-31870074	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr6:31869855-31869966	HepG2	liver:	n/a	n/a
22	CEBPD	chr6:31869664-31870228	K562	blood:	n/a	n/a
23	CEBPD	chr6:31869397-31870309	HepG2	liver:	n/a	n/a
24	CEBPD	chr6:31869463-31870474	HepG2	liver:	n/a	n/a
25	CEBPD	chr6:31869135-31870391	K562	blood:	n/a	n/a
26	CHD1	chr6:31870174-31870350	GM12878	blood:	n/a	n/a
27	CHD1	chr6:31869830-31869948	GM12878	blood:	n/a	n/a
28	CHD2	chr6:31869224-31869330	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr6:31869181-31870565	Hela-S3	cervix:	n/a	chr6:31869773-31869783 chr6:31869438-31869448
30	CHD2	chr6:31869103-31870407	K562	blood:	n/a	chr6:31869773-31869783 chr6:31869438-31869448
31	CHD2	chr6:31869252-31870541	GM12878	blood:	n/a	chr6:31869773-31869783 chr6:31869438-31869448
32	CHD2	chr6:31869831-31870252	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr6:31869677-31870316	HepG2	liver:	n/a	chr6:31869773-31869783
34	CREB1	chr6:31869242-31870317	GM12878	blood:	n/a	n/a
35	CREB1	chr6:31869661-31870384	A549	lung:	n/a	n/a
36	CREB1	chr6:31869042-31870836	HepG2	liver:	n/a	n/a
37	CREB1	chr6:31869804-31870047	A549	lung:	n/a	n/a
38	CREB1	chr6:31869287-31869660	A549	lung:	n/a	n/a
39	CREB1	chr6:31869752-31870470	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr6:31869266-31870457	K562	blood:	n/a	n/a
41	CTCF	chr6:31868683-31868862	MCF-7	breast:	n/a	n/a
42	CTCF	chr6:31870260-31870410	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr6:31869935-31869975	MCF-7	breast:	n/a	n/a
44	CTCF	chr6:31869820-31869970	K562	blood:	n/a	n/a
45	CTCF	chr6:31870360-31870510	AG10803	skin:	n/a	n/a
46	CTCF	chr6:31868712-31868826	MCF-7	breast:	n/a	n/a
47	CTCF	chr6:31870160-31870310	GM12868	blood:	n/a	chr6:31870214-31870227
48	CTCF	chr6:31868640-31868790	SAEC	small airway:	n/a	n/a
49	CTCF	chr6:31869820-31869970	AG04450	lung:	n/a	n/a
50	CTCF	chr6:31869780-31870070	HVMF	connective:	n/a	n/a

(count:2807 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31869540-31869590	IMR90	lung:	fetal
2	chr6:31869540-31869590	IMR90	lung:	fetal
3	chr6:31870092-31870142	MCF10A-Er-Src	breast:	n/a
4	chr6:31870305-31870355	HRCEpiC	kidney:	n/a
5	chr6:31868724-31868774	U87	brain:	n/a
6	chr6:31870476-31870526	NT2-D1	testis:	n/a
7	chr6:31870281-31870331	HCM	heart:	n/a
8	chr6:31870245-31870295	Jurkat	blood:	n/a
9	chr6:31868740-31868790	Caco-2	colon:	n/a
10	chr6:31868740-31868790	HUVEC	blood vessel:	n/a
11	chr6:31869572-31869622	HRCEpiC	kidney:	n/a
12	chr6:31868813-31868863	PANC-1	pancreas:	n/a
13	chr6:31870344-31870394	H1-hESC	embryonic stem cell:	embryo
14	chr6:31870281-31870331	K562	blood:	n/a
15	chr6:31868842-31868892	HCM	heart:	n/a
16	chr6:31870310-31870360	NT2-D1	testis:	n/a
17	chr6:31870092-31870142	HCM	heart:	n/a
18	chr6:31868949-31868999	BE2_C	brain:	n/a
19	chr6:31870783-31870833	NT2-D1	testis:	n/a
20	chr6:31870263-31870313	GM12878	blood:	n/a
21	chr6:31870092-31870142	HPAEpiC	pulmonary alveolar:	n/a
22	chr6:31869529-31869579	HIPEpiC	eye:	n/a
23	chr6:31868782-31868832	H1-hESC	embryonic stem cell:	embryo
24	chr6:31870783-31870833	HNPCEpiC	eye:	n/a
25	chr6:31870840-31870890	AG09309	skin:	n/a
26	chr6:31870259-31870309	Caco-2	colon:	n/a
27	chr6:31870891-31870941	MCF-7	breast:	n/a
28	chr6:31869301-31869351	NHBE	bronchial:	n/a
29	chr6:31868740-31868790	HepG2	liver:	n/a
30	chr6:31870305-31870355	PrEC	prostate:	n/a
31	chr6:31869120-31869170	AG04450	lung:	fetal
32	chr6:31870476-31870526	HRE	kidney:	n/a
33	chr6:31868724-31868774	HRCEpiC	kidney:	n/a
34	chr6:31868949-31868999	H1-hESC	embryonic stem cell:	embryo
35	chr6:31869529-31869579	SK-N-MC	brain:	n/a
36	chr6:31868847-31868897	IMR90	lung:	fetal
37	chr6:31868724-31868774	HAEpiC	amniotic membrane:	n/a
38	chr6:31868847-31868897	H1-hESC	embryonic stem cell:	embryo
39	chr6:31870082-31870132	HIPEpiC	eye:	n/a
40	chr6:31870600-31870650	CMK	blood:	n/a
41	chr6:31868797-31868847	Hepatocyte	liver:	n/a
42	chr6:31870305-31870355	MCF10A-Er-Src	breast:	n/a
43	chr6:31869443-31869493	T-47D	breast:	n/a
44	chr6:31869518-31869568	MCF-7	breast:	n/a
45	chr6:31870084-31870134	Hela-S3	cervix:	n/a
46	chr6:31869572-31869622	Caco-2	colon:	n/a
47	chr6:31869304-31869354	H1-hESC	embryonic stem cell:	embryo
48	chr6:31870305-31870355	HCM	heart:	n/a
49	chr6:31870344-31870394	Hepatocyte	liver:	n/a
50	chr6:31870259-31870309	H1-hESC	embryonic stem cell:	embryo

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:31869231..31871840-chr6:31901304..31905157,3	MCF-7	breast:
2	chr6:31827799..31831011-chr6:31868395..31870845,5	MCF-7	breast:
3	chr6:31862879..31872535-chr6:31911667..31928766,47	MCF-7	breast:
4	chr6:31801352..31804698-chr6:31868339..31871951,3	K562	blood:
5	chr6:31870410..31872012-chr6:32054069..32057423,3	K562	blood:
6	chr6:31761659..31764051-chr6:31869423..31871582,3	K562	blood:
7	chr6:31831382..31834219-chr6:31869960..31872088,3	K562	blood:
8	chr6:31869929..31870848-chr6:31919914..31920759,2	MCF-7	breast:
9	chr6:31508952..31511301-chr6:31870064..31872291,2	MCF-7	breast:
10	chr6:31743040..31745284-chr6:31866637..31868631,2	K562	blood:
11	chr6:31868706..31872478-chr6:31938286..31942065,5	MCF-7	breast:
12	chr6:31762561..31765176-chr6:31866590..31868817,2	MCF-7	breast:
13	chr6:31631113..31634365-chr6:31867924..31871902,6	K562	blood:
14	chr6:31867782..31870627-chr6:32121344..32123906,2	K562	blood:
15	chr6:31844613..31847430-chr6:31865372..31868871,3	MCF-7	breast:
16	chr6:31829023..31831554-chr6:31869870..31871779,2	MCF-7	breast:
17	chr6:31868360..31871056-chr6:32011358..32014091,3	K562	blood:
18	chr6:31868360..31870239-chr6:32012136..32014091,2	K562	blood:
19	chr6:31866210..31871385-chr6:31935988..31941288,8	K562	blood:
20	chr6:31864133..31871768-chr6:31886295..31891953,13	MCF-7	breast:
21	chr6:31869794..31870410-chr6:31919738..31920330,2	HCT-116	colon:
22	chr6:31793170..31796834-chr6:31863715..31868848,6	K562	blood:
23	chr6:31627970..31635325-chr6:31864036..31871429,12	K562	blood:
24	chr6:31795326..31798240-chr6:31869248..31870828,2	K562	blood:
25	chr6:31794734..31796775-chr6:31868219..31871084,2	MCF-7	breast:
26	chr6:31867879..31871842-chr6:31901664..31905567,4	MCF-7	breast:
27	chr17:61904476..61906775-chr6:31869076..31871321,2	MCF-7	breast:
28	chr6:31870200..31872258-chr6:31872448..31875801,4	K562	blood:
29	chr6:31829040..31831339-chr6:31870895..31873682,3	K562	blood:
30	chr6:31868502..31871158-chr6:31911705..31915017,4	MCF-7	breast:
31	chr17:56735218..56737822-chr6:31869690..31871981,3	MCF-7	breast:
32	chr4:139163040..139163916-chr6:31869733..31870234,2	HCT-116	colon:
33	chr6:31864040..31872511-chr6:31917614..31930102,27	MCF-7	breast:
34	chr6:31509091..31511742-chr6:31868193..31871571,3	MCF-7	breast:
35	chr6:31860287..31862319-chr6:31868202..31870669,2	MCF-7	breast:
36	chr6:31846442..31848048-chr6:31868032..31869941,2	K562	blood:
37	chr6:31869703..31871388-chr6:31919073..31921188,2	K562	blood:
38	chr6:31868614..31871551-chr6:31914927..31918494,4	K562	blood:
39	chr6:31782860..31784585-chr6:31867498..31869267,2	K562	blood:
40	chr6:31869193..31873526-chr6:31908186..31911581,4	MCF-7	breast:
41	chr6:31867895..31873109-chr6:31925613..31930389,7	K562	blood:
42	chr6:31870028..31871569-chr6:31882046..31884323,2	K562	blood:
43	chr6:31761659..31763884-chr6:31868027..31870923,3	K562	blood:
44	chr6:31864068..31872693-chr6:31934470..31941847,12	MCF-7	breast:
45	chr6:31618484..31622073-chr6:31864833..31868659,4	K562	blood:
46	chr6:31742944..31744994-chr6:31869511..31871431,2	K562	blood:
47	chr6:31851397..31853749-chr6:31868487..31870497,2	MCF-7	breast:
48	chr6:31866937..31868698-chr6:31878649..31880716,2	K562	blood:
49	chr6:31867614..31871926-chr6:31937988..31942087,9	K562	blood:
50	chr6:31868781..31871119-chr6:31892943..31895660,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZBTB12	TF binding region
C2	TF binding region
EHMT2	TF binding region
ZBTB12	CpG island
C2	CpG island
EHMT2	CpG island
ENSG00000204386	chromatin interactions
ENSG00000204396	chromatin interactions
ENSG00000221267	chromatin interactions
ENSG00000265236	chromatin interactions
ENSG00000204371	chromatin interactions
ENSG00000204356	chromatin interactions
ENSG00000108592	chromatin interactions
ENSG00000168477	chromatin interactions
ENSG00000204344	chromatin interactions
ENSG00000166278	chromatin interactions
ENSG00000258388	chromatin interactions
ENSG00000204394	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000204314	chromatin interactions
ENSG00000263020	chromatin interactions
ENSG00000204351	chromatin interactions
ENSG00000204388	chromatin interactions
ENSG00000221988	chromatin interactions
ENSG00000204438	chromatin interactions
ENSG00000204444	chromatin interactions
ENSG00000234006	chromatin interactions
ENSG00000087191	chromatin interactions
ENSG00000204389	chromatin interactions
ENSG00000198563	chromatin interactions
ENSG00000201207	chromatin interactions
ENSG00000201823	chromatin interactions
ENSG00000204385	chromatin interactions
ENSG00000243649	chromatin interactions
ENSG00000204435	chromatin interactions
ENSG00000151012	chromatin interactions
ENSG00000204348	chromatin interactions
ENSG00000204387	chromatin interactions
ENSG00000204463	chromatin interactions
ENSG00000244255	chromatin interactions
ENSG00000204439	chromatin interactions
ENSG00000201754	chromatin interactions
ENSG00000237080	chromatin interactions
ENSG00000204390	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372529427	chr6:31868630-31868631	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
2	rs375461795	chr6:31868657-31868658	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
3	rs373260313	chr6:31868660-31868661	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
4	rs372740110	chr6:31868665-31868666	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
5	rs544646382	chr6:31868676-31868677	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
6	rs201031797	chr6:31868740-31868741	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
7	rs114508013	chr6:31868765-31868766	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
8	rs376539476	chr6:31868828-31868829	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
9	rs377556449	chr6:31868837-31868838	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
10	rs148838488	chr6:31868843-31868844	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
11	rs9394078	chr6:31868938-31868939	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	31 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs145104876	chr6:31868992-31868993	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
13	rs368589481	chr6:31869038-31869039	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
14	rs567392933	chr6:31869051-31869052	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
15	rs537936342	chr6:31869057-31869058	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
16	rs551523190	chr6:31869077-31869078	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
17	rs145940099	chr6:31869088-31869089	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
18	rs556201424	chr6:31869090-31869091	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
19	rs201803672	chr6:31869094-31869095	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
20	rs544783355	chr6:31869102-31869103	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
21	rs45462992	chr6:31869122-31869123	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
22	rs12525922	chr6:31869135-31869136	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
23	rs567208909	chr6:31869239-31869240	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
24	rs146986371	chr6:31869273-31869274	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
25	rs375794318	chr6:31869352-31869353	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
26	rs138106337	chr6:31869356-31869357	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
27	rs555142162	chr6:31869359-31869360	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
28	rs560054595	chr6:31869474-31869475	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
29	rs183271908	chr6:31869480-31869481	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
30	rs560153070	chr6:31869721-31869722	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
31	rs562540871	chr6:31869734-31869735	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
32	rs376228585	chr6:31869735-31869736	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
33	rs111592556	chr6:31869788-31869789	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
34	rs374589428	chr6:31869851-31869852	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
35	rs116606947	chr6:31869867-31869868	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
36	rs527578653	chr6:31869950-31869951	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
37	rs549045533	chr6:31870007-31870008	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
38	rs567564853	chr6:31870022-31870023	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
39	rs531360135	chr6:31870039-31870040	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
40	rs187160690	chr6:31870080-31870081	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
41	rs192017691	chr6:31870126-31870127	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
42	rs571346077	chr6:31870128-31870129	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
43	rs368261075	chr6:31870129-31870130	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
44	rs538783211	chr6:31870135-31870136	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
45	rs371961539	chr6:31870144-31870145	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
46	rs565987328	chr6:31870152-31870153	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
47	rs548794323	chr6:31870178-31870179	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
48	rs368609164	chr6:31870179-31870180	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
49	rs34249798	chr6:31870183-31870184	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	36 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs4333442	chr6:31870205-31870206	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	36 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:582 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31866200-31868800	Weak transcription	Aorta	Aorta
2	chr6:31866400-31868800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:31866400-31869000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:31866600-31868800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:31866600-31868800	Genic enhancers	Fetal Stomach	stomach
6	chr6:31866600-31869200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:31866800-31868800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:31866800-31868800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:31866800-31868800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:31866800-31868800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:31866800-31868800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:31866800-31868800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:31866800-31868800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:31866800-31868800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:31866800-31868800	Enhancers	Adipose Nuclei	Adipose
16	chr6:31866800-31868800	Enhancers	Liver	Liver
17	chr6:31866800-31868800	Enhancers	Brain Angular Gyrus	brain
18	chr6:31866800-31868800	Genic enhancers	Fetal Intestine Small	intestine
19	chr6:31866800-31868800	Enhancers	Fetal Muscle Leg	muscle
20	chr6:31866800-31868800	Weak transcription	Ovary	ovary
21	chr6:31866800-31868800	Enhancers	Pancreas	Pancrea
22	chr6:31866800-31868800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:31866800-31868800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:31866800-31868800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:31866800-31868800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr6:31866800-31868800	Weak transcription	Stomach Mucosa	stomach
27	chr6:31866800-31868800	Enhancers	Stomach Smooth Muscle	stomach
28	chr6:31866800-31868800	Weak transcription	HMEC	breast
29	chr6:31866800-31868800	Weak transcription	HSMM	muscle
30	chr6:31866800-31868800	Weak transcription	HSMMtube	muscle
31	chr6:31866800-31868800	Weak transcription	HUVEC	blood vessel
32	chr6:31866800-31868800	Weak transcription	NHEK	skin
33	chr6:31866800-31868800	Weak transcription	Osteobl	bone
34	chr6:31866800-31869000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr6:31866800-31869000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr6:31866800-31869000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr6:31866800-31869000	Enhancers	Left Ventricle	heart
38	chr6:31866800-31869000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr6:31866800-31869200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr6:31866800-31869200	Weak transcription	Small Intestine	intestine
41	chr6:31866800-31869600	Enhancers	Fetal Heart	heart
42	chr6:31867000-31868800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:31867000-31868800	Weak transcription	Brain Substantia Nigra	brain
44	chr6:31867000-31868800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:31867200-31868800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:31867200-31868800	Weak transcription	NHLF	lung
47	chr6:31867200-31869000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:31867200-31869000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:31867200-31869000	Weak transcription	Psoas Muscle	Psoas
50	chr6:31867400-31868800	Enhancers	K562	blood

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