Variant report

Variant	esv3372590
Chromosome Location	chr7:27181652-27184200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:27183159-27183652	HepG2	liver:	n/a	n/a
2	BACH1	chr7:27182754-27182923	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr7:27182969-27183466	A549	lung:	n/a	n/a
4	BCL3	chr7:27183034-27183631	A549	lung:	n/a	n/a
5	BHLHE40	chr7:27183211-27183556	A549	lung:	n/a	chr7:27183378-27183387 chr7:27183378-27183387 chr7:27183372-27183393
6	BHLHE40	chr7:27183296-27183571	HepG2	liver:	n/a	chr7:27183378-27183387 chr7:27183378-27183387 chr7:27183372-27183393
7	BHLHE40	chr7:27183164-27183646	HepG2	liver:	n/a	chr7:27183378-27183387 chr7:27183378-27183387 chr7:27183372-27183393
8	BRCA1	chr7:27183088-27183649	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr7:27183337-27183607	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr7:27183004-27183479	A549	lung:	n/a	chr7:27183287-27183298 chr7:27183285-27183298 chr7:27183285-27183296
11	CEBPB	chr7:27183119-27183798	H1-hESC	embryonic stem cell:	n/a	chr7:27183287-27183298 chr7:27183285-27183298 chr7:27183285-27183296
12	CEBPB	chr7:27183028-27183503	ECC-1	luminal epithelium:	n/a	chr7:27183287-27183298 chr7:27183285-27183298 chr7:27183285-27183296
13	CEBPB	chr7:27183057-27183557	MCF-7	breast:	n/a	chr7:27183287-27183298 chr7:27183285-27183298 chr7:27183285-27183296
14	CEBPB	chr7:27182814-27183740	IMR90	lung:	n/a	chr7:27183287-27183298 chr7:27183285-27183298 chr7:27183285-27183296
15	CEBPB	chr7:27182898-27183672	A549	lung:	n/a	chr7:27183287-27183298 chr7:27183285-27183298 chr7:27183285-27183296
16	CEBPB	chr7:27182762-27183651	Hela-S3	cervix:	n/a	chr7:27183287-27183298 chr7:27183285-27183298 chr7:27183285-27183296
17	CEBPB	chr7:27183015-27183459	HepG2	liver:	n/a	chr7:27183287-27183298 chr7:27183285-27183298 chr7:27183285-27183296
18	CEBPB	chr7:27182913-27183621	ECC-1	luminal epithelium:	n/a	chr7:27183287-27183298 chr7:27183285-27183298 chr7:27183285-27183296
19	CEBPB	chr7:27183028-27183676	A549	lung:	n/a	chr7:27183287-27183298 chr7:27183285-27183298 chr7:27183285-27183296
20	CEBPB	chr7:27182945-27183636	MCF-7	breast:	n/a	chr7:27183287-27183298 chr7:27183285-27183298 chr7:27183285-27183296
21	CEBPB	chr7:27183170-27183436	HepG2	liver:	n/a	chr7:27183287-27183298 chr7:27183285-27183298 chr7:27183285-27183296
22	CHD1	chr7:27172934-27188024	IMR90	lung:	n/a	chr7:27183718-27183728 chr7:27179430-27179440
23	CHD2	chr7:27183217-27183702	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr7:27182490-27183721	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr7:27183301-27183487	HepG2	liver:	n/a	n/a
26	CREB1	chr7:27183222-27183544	A549	lung:	n/a	n/a
27	CREB1	chr7:27183187-27183588	ECC-1	luminal epithelium:	n/a	n/a
28	CREB1	chr7:27182900-27183718	HepG2	liver:	n/a	n/a
29	CREB1	chr7:27183292-27183672	A549	lung:	n/a	n/a
30	CTBP2	chr7:27181952-27183164	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr7:27183540-27183690	HCM	heart:	n/a	n/a
32	CTCF	chr7:27183460-27183610	GM12865	blood:	n/a	chr7:27183531-27183549 chr7:27183539-27183552 chr7:27183532-27183548 chr7:27183533-27183546 chr7:27183533-27183546 chr7:27183526-27183547
33	CTCF	chr7:27183440-27183590	Caco-2	colon:	n/a	chr7:27183531-27183549 chr7:27183539-27183552 chr7:27183532-27183548 chr7:27183533-27183546 chr7:27183533-27183546 chr7:27183526-27183547
34	CTCF	chr7:27183442-27183631	Fibrobl	skin:	n/a	chr7:27183531-27183549 chr7:27183539-27183552 chr7:27183532-27183548 chr7:27183533-27183546 chr7:27183533-27183546 chr7:27183526-27183547
35	CTCF	chr7:27183480-27183630	AG09319	gingival:	n/a	chr7:27183531-27183549 chr7:27183539-27183552 chr7:27183532-27183548 chr7:27183533-27183546 chr7:27183533-27183546 chr7:27183526-27183547
36	CTCF	chr7:27182080-27182230	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr7:27181699-27181805	HepG2	liver:	n/a	chr7:27181755-27181764
38	CTCF	chr7:27181562-27181862	A549	lung:	n/a	chr7:27181755-27181764
39	CTCF	chr7:27183520-27183670	GM12867	blood:	n/a	chr7:27183531-27183549 chr7:27183539-27183552 chr7:27183532-27183548 chr7:27183533-27183546 chr7:27183533-27183546 chr7:27183526-27183547
40	CTCF	chr7:27183500-27183650	A549	lung:	n/a	chr7:27183531-27183549 chr7:27183539-27183552 chr7:27183532-27183548 chr7:27183533-27183546 chr7:27183533-27183546 chr7:27183526-27183547
41	CTCF	chr7:27183222-27183826	MCF-7	breast:	n/a	chr7:27183531-27183549 chr7:27183539-27183552 chr7:27183532-27183548 chr7:27183533-27183546 chr7:27183533-27183546 chr7:27183526-27183547
42	CTCF	chr7:27183549-27183605	GM10248	blood:	n/a	n/a
43	CTCF	chr7:27182260-27182410	A549	lung:	n/a	n/a
44	CTCF	chr7:27181681-27181817	HUVEC	blood vessel:	n/a	chr7:27181755-27181764
45	CTCF	chr7:27183299-27183667	HepG2	liver:	n/a	chr7:27183531-27183549 chr7:27183539-27183552 chr7:27183532-27183548 chr7:27183533-27183546 chr7:27183533-27183546 chr7:27183526-27183547
46	CTCF	chr7:27183432-27183647	GM19238	blood:	n/a	chr7:27183531-27183549 chr7:27183539-27183552 chr7:27183532-27183548 chr7:27183533-27183546 chr7:27183533-27183546 chr7:27183526-27183547
47	CTCF	chr7:27183313-27183703	MCF-7	breast:	n/a	chr7:27183531-27183549 chr7:27183539-27183552 chr7:27183532-27183548 chr7:27183533-27183546 chr7:27183533-27183546 chr7:27183526-27183547
48	CTCF	chr7:27183308-27183597	A549	lung:	n/a	chr7:27183531-27183549 chr7:27183539-27183552 chr7:27183532-27183548 chr7:27183533-27183546 chr7:27183533-27183546 chr7:27183526-27183547
49	CTCF	chr7:27181900-27182050	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr7:27183440-27183590	GM12865	blood:	n/a	chr7:27183531-27183549 chr7:27183539-27183552 chr7:27183532-27183548 chr7:27183533-27183546 chr7:27183533-27183546 chr7:27183526-27183547

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27183686-27183736	NB4	blood:	n/a
2	chr7:27183401-27183451	HepG2	liver:	n/a
3	chr7:27183196-27183246	ovcar-3	ovarian:	n/a
4	chr7:27184030-27184080	HepG2	liver:	n/a
5	chr7:27183369-27183419	SAEC	small airway:	n/a
6	chr7:27183686-27183736	NB4	blood:	n/a
7	chr7:27183401-27183451	HepG2	liver:	n/a
8	chr7:27183196-27183246	ovcar-3	ovarian:	n/a
9	chr7:27184030-27184080	HepG2	liver:	n/a
10	chr7:27183369-27183419	SAEC	small airway:	n/a
11	chr7:27184109-27184159	HAEpiC	amniotic membrane:	n/a
12	chr7:27183369-27183419	PFSK-1	brain:	n/a
13	chr7:27183694-27183744	HL-60	blood:	n/a
14	chr7:27183274-27183324	H1-hESC	embryonic stem cell:	embryo
15	chr7:27184065-27184115	PANC-1	pancreas:	n/a
16	chr7:27182493-27182543	AG10803	skin:	n/a
17	chr7:27183643-27183693	K562	blood:	n/a
18	chr7:27183694-27183744	SKMC	muscle:	n/a
19	chr7:27181671-27181721	ProgFib	skin:	n/a
20	chr7:27184167-27184217	SAEC	small airway:	n/a
21	chr7:27183643-27183693	CMK	blood:	n/a
22	chr7:27183369-27183419	SK-N-SH	brain:	n/a
23	chr7:27183375-27183425	NB4	blood:	n/a
24	chr7:27182493-27182543	Hela-S3	cervix:	n/a
25	chr7:27183990-27184040	GM12892	blood:	n/a
26	chr7:27183369-27183419	HAEpiC	amniotic membrane:	n/a
27	chr7:27183950-27184000	AoSMC	blood vessel:	n/a
28	chr7:27182637-27182687	AG04449	skin:	fetal
29	chr7:27183794-27183844	HCF	heart:	n/a
30	chr7:27183375-27183425	NHBE	bronchial:	n/a
31	chr7:27182637-27182687	T-47D	breast:	n/a
32	chr7:27183375-27183425	U87	brain:	n/a
33	chr7:27184094-27184144	Hela-S3	cervix:	n/a
34	chr7:27182493-27182543	AG09309	skin:	n/a
35	chr7:27184030-27184080	HRPEpiC	eye:	n/a
36	chr7:27181671-27181721	GM12891	blood:	n/a
37	chr7:27184094-27184144	Jurkat	blood:	n/a
38	chr7:27183861-27183911	HCM	heart:	n/a
39	chr7:27184059-27184109	HAEpiC	amniotic membrane:	n/a
40	chr7:27183806-27183856	HRPEpiC	eye:	n/a
41	chr7:27183694-27183744	NB4	blood:	n/a
42	chr7:27183401-27183451	HPAEpiC	pulmonary alveolar:	n/a
43	chr7:27183946-27183996	LNCaP	prostate:	n/a
44	chr7:27183643-27183693	HAEpiC	amniotic membrane:	n/a
45	chr7:27184109-27184159	PANC-1	pancreas:	n/a
46	chr7:27183990-27184040	SK-N-SH	brain:	n/a
47	chr7:27183806-27183856	HCM	heart:	n/a
48	chr7:27183973-27184023	IMR90	lung:	fetal
49	chr7:27183196-27183246	BE2_C	brain:	n/a
50	chr7:27183950-27184000	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27181770-27195105..7:27230275-27238414	GM12878	blood:
2	chr7:26903484..26905321-chr7:27183031..27185507,2	MCF-7	breast:
3	7:27162022-27164727..7:27181770-27195105	H1-hESC	embryonic stem cell:	embryo
4	chr7:26721768..26723951-chr7:27183878..27185970,2	MCF-7	breast:
5	chr7:27154930..27155509-chr7:27182224..27183181,2	Hela-S3	cervix:
6	chr7:27181480..27183219-chr7:27189259..27191878,2	MCF-7	breast:
7	chr7:27178227..27179948-chr7:27181213..27183390,2	MCF-7	breast:
8	chr7:26902947..26905299-chr7:27180909..27183737,2	MCF-7	breast:
9	7:27082525-27089724..7:27181770-27195105	Hela-S3	cervix:
10	7:27162022-27164727..7:27176959-27181770	H1-hESC	embryonic stem cell:	embryo
11	7:27082525-27089724..7:27176959-27181770	Hela-S3	cervix:
12	chr7:27176401..27178574-chr7:27179994..27182011,2	K562	blood:
13	chr7:27170268..27172208-chr7:27181167..27182998,2	MCF-7	breast:
14	chr7:26894665..26897647-chr7:27182466..27184718,4	MCF-7	breast:
15	7:27017279-27025474..7:27176959-27181770	Hela-S3	cervix:
16	chr7:27181736..27184705-chr7:27188724..27191664,4	MCF-7	breast:

Variant related genes	Relation type
HOXA5	TF binding region
HOXA-AS3	TF binding region
HOXA3	TF binding region
HOXA5	CpG island
HOXA-AS3	CpG island
HOXA3	CpG island
ENSG00000253552	chromatin interactions
ENSG00000106031	chromatin interactions
ENSG00000106006	chromatin interactions
ENSG00000226059	chromatin interactions
ENSG00000197576	chromatin interactions
ENSG00000213786	chromatin interactions
ENSG00000243766	chromatin interactions
ENSG00000005020	chromatin interactions
ENSG00000253508	chromatin interactions
ENSG00000254369	chromatin interactions
ENSG00000105997	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370228653	chr7:27181655-27181656	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs200882572	chr7:27181685-27181686	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs3735527	chr7:27181734-27181735	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs207467748	chr7:27181757-27181758	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs559717520	chr7:27181787-27181788	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs528649841	chr7:27181807-27181808	Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs538910085	chr7:27181901-27181902	Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs187390446	chr7:27182002-27182003	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs539286296	chr7:27182008-27182009	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs575414558	chr7:27182024-27182025	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs530857249	chr7:27182062-27182063	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs550573489	chr7:27182070-27182071	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs570779071	chr7:27182074-27182075	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs113992860	chr7:27182122-27182123	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs192534564	chr7:27182127-27182128	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs3757639	chr7:27182142-27182143	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs535621651	chr7:27182203-27182204	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs10155970	chr7:27182211-27182212	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs78416026	chr7:27182230-27182231	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs3757640	chr7:27182245-27182246	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs537900383	chr7:27182257-27182258	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs62454414	chr7:27182329-27182330	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577535385	chr7:27182333-27182334	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs41303384	chr7:27182341-27182342	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs554685880	chr7:27182365-27182366	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs574455693	chr7:27182394-27182395	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs559975874	chr7:27182422-27182423	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs146559230	chr7:27182430-27182431	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs542012390	chr7:27182490-27182491	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs561908025	chr7:27182494-27182495	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs530915132	chr7:27182495-27182496	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs550632768	chr7:27182508-27182509	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs564339397	chr7:27182534-27182535	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs533347390	chr7:27182555-27182556	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs376793125	chr7:27182585-27182586	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs546604133	chr7:27182611-27182612	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs200385351	chr7:27182632-27182633	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs73290304	chr7:27182633-27182634	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs373032286	chr7:27182684-27182685	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs535686511	chr7:27182707-27182708	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs150111660	chr7:27182718-27182719	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs370767951	chr7:27182729-27182730	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs377343707	chr7:27182730-27182731	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs202017218	chr7:27182747-27182748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs35281041	chr7:27182828-27182829	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs201542016	chr7:27182890-27182891	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs368436023	chr7:27182912-27182913	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs373725292	chr7:27182938-27182939	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs200748640	chr7:27182948-27182949	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs1047218	chr7:27183002-27183003	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27175800-27184800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr7:27177600-27183200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr7:27177600-27184400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr7:27177800-27181800	Flanking Active TSS	HUVEC	blood vessel
5	chr7:27178600-27183000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:27179000-27183400	Active TSS	Lung	lung
7	chr7:27179200-27182200	Weak transcription	Spleen	Spleen
8	chr7:27179200-27183200	Weak transcription	Dnd41	blood
9	chr7:27179400-27181800	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr7:27179400-27183200	Transcr. at gene 5' and 3'	Fetal Lung	lung
11	chr7:27180000-27183600	Active TSS	Stomach Smooth Muscle	stomach
12	chr7:27180200-27181800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:27180400-27182200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:27180600-27183000	Active TSS	Rectal Smooth Muscle	rectum
15	chr7:27180600-27183600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:27180600-27185600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr7:27180800-27181800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr7:27180800-27181800	Bivalent/Poised TSS	Fetal Brain Male	brain
19	chr7:27180800-27183600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
20	chr7:27181000-27182200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:27181200-27181800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
22	chr7:27181200-27182800	Weak transcription	NHDF-Ad	bronchial
23	chr7:27181200-27183600	Active TSS	HMEC	breast
24	chr7:27181200-27184000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr7:27181400-27181800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
26	chr7:27181400-27182000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr7:27181400-27182000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr7:27181400-27182600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:27181400-27182600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr7:27181400-27183200	Active TSS	Psoas Muscle	Psoas
31	chr7:27181400-27183200	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr7:27181400-27183400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:27181400-27183400	Active TSS	Aorta	Aorta
34	chr7:27181400-27183600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:27181400-27183600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:27181400-27183800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:27181400-27184000	Active TSS	A549	lung
38	chr7:27181400-27184400	Active TSS	Esophagus	oesophagus
39	chr7:27181400-27184800	Active TSS	Right Atrium	heart
40	chr7:27181400-27185400	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
41	chr7:27181600-27181800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr7:27181600-27181800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:27181600-27181800	Flanking Active TSS	Pancreas	Pancrea
44	chr7:27181600-27181800	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
45	chr7:27181600-27182000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:27181600-27182000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:27181600-27182000	Flanking Active TSS	Hela-S3	cervix
48	chr7:27181600-27182200	Active TSS	NHLF	lung
49	chr7:27181600-27182400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr7:27181600-27182600	Active TSS	Sigmoid Colon	Sigmoid Colon

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