Variant report

Variant	rs576970852
Chromosome Location	chr8:7641382-7641383
allele	A/G
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	POLR2A	chr8:7641376-7641611	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:7641312-7641470	HCT-116	colon:	n/a	n/a
3	POLR2A	chr8:7641322-7641465	HCT-116	colon:	n/a	n/a
4	YY1	chr8:7641322-7641473	H1-hESC	embryonic stem cell:	n/a	chr8:7641435-7641447
5	POLR2A	chr8:7640921-7641816	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr8:7641286-7641737	K562	blood:	n/a	chr8:7641587-7641605 chr8:7641582-7641603
7	POLR2A	chr8:7641165-7641641	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr8:7641357-7641719	K562	blood:	n/a	chr8:7641587-7641605 chr8:7641582-7641603
9	HEY1	chr8:7641333-7641608	HepG2	liver:	n/a	n/a
10	CTCF	chr8:7641260-7641410	HPF	lung:	n/a	n/a
11	POLR2A	chr8:7641322-7641581	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr8:7641320-7641470	HCM	heart:	n/a	n/a
13	TEAD4	chr8:7641266-7641765	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr8:7641345-7641798	A549	lung:	n/a	chr8:7641587-7641605 chr8:7641582-7641603
15	GABPA	chr8:7641367-7641666	HepG2	liver:	n/a	chr8:7641554-7641563 chr8:7641552-7641561 chr8:7641552-7641563 chr8:7641552-7641566 chr8:7641549-7641563
16	CTCF	chr8:7641375-7641713	H1-hESC	embryonic stem cell:	n/a	chr8:7641587-7641605 chr8:7641582-7641603
17	POLR2A	chr8:7640919-7641615	MCF-7	breast:	n/a	n/a
18	HEY1	chr8:7641273-7641631	K562	blood:	n/a	n/a
19	SPI1	chr8:7641322-7641709	GM12891	blood:	n/a	n/a
20	TAF1	chr8:7641202-7641701	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr8:7641297-7641601	K562	blood:	n/a	n/a
22	CTCF	chr8:7641340-7641490	SK-N-SH_RA	brain:	n/a	n/a
23	IRF4	chr8:7641374-7641701	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:7641237-7641732	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr8:7641209-7641515	HUVEC	blood vessel:	n/a	n/a
26	HEY1	chr8:7641287-7641712	K562	blood:	n/a	n/a
27	POLR2A	chr8:7641271-7641582	A549	lung:	n/a	n/a
28	POU2F2	chr8:7641277-7641705	GM12891	blood:	n/a	n/a
29	CBX3	chr8:7641288-7641775	K562	blood:	n/a	n/a
30	POLR2A	chr8:7641216-7641728	H1-hESC	embryonic stem cell:	n/a	n/a
31	PAX5	chr8:7641255-7641753	GM12878	blood:	n/a	chr8:7641529-7641548
32	SPI1	chr8:7641314-7641685	GM12878	blood:	n/a	n/a
33	YY1	chr8:7641272-7641515	H1-hESC	embryonic stem cell:	n/a	chr8:7641471-7641485 chr8:7641435-7641447
34	CTCF	chr8:7641357-7641791	A549	lung:	n/a	chr8:7641587-7641605 chr8:7641582-7641603
35	FOXP2	chr8:7641375-7641679	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr8:7641299-7641641	A549	lung:	n/a	n/a
37	MYC	chr8:7641361-7641653	MCF-7	breast:	n/a	n/a
38	TAF1	chr8:7641297-7641747	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr8:7641264-7641640	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr8:7641360-7641537	A549	lung:	n/a	n/a
41	MYC	chr8:7641379-7641609	MCF-7	breast:	n/a	n/a
42	POLR2A	chr8:7641282-7641631	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr8:7641357-7641590	A549	lung:	n/a	n/a
44	CTCF	chr8:7641351-7641737	Spleen_OC	spleen:	n/a	chr8:7641587-7641605 chr8:7641582-7641603
45	SPI1	chr8:7641345-7641687	K562	blood:	n/a	n/a
46	CTCF	chr8:7641338-7641706	K562	blood:	n/a	chr8:7641587-7641605 chr8:7641582-7641603
47	GABPA	chr8:7641366-7641671	HepG2	liver:	n/a	chr8:7641554-7641563 chr8:7641552-7641561 chr8:7641552-7641563 chr8:7641552-7641566 chr8:7641549-7641563
48	POLR2A	chr8:7641333-7641667	H1-hESC	embryonic stem cell:	n/a	n/a
49	TEAD4	chr8:7641301-7641847	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr8:7641307-7641519	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
PRR23D2	TF binding region

Extended variants
information (count: 1004 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:1004 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429845	chr8:6729645-7690320	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
2	nsv1029843	chr8:6833356-7832042	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	79 gene(s)	inside rSNPs	diseases
3	esv1807935	chr8:6835213-7789243	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
4	nsv1018704	chr8:6878841-7798839	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
5	nsv1024678	chr8:6879803-7744052	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
6	nsv491766	chr8:6880304-7752586	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
7	nsv1018227	chr8:6882393-7832042	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
8	nsv1020483	chr8:6933746-7759581	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
9	nsv1016219	chr8:6937887-7798839	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
10	nsv1022167	chr8:6940602-7783150	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	nsv1028748	chr8:6959821-7744052	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
12	nsv1023663	chr8:6959821-7787950	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
13	nsv1031341	chr8:6959821-7838762	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
14	nsv1034593	chr8:6959821-7959558	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	78 gene(s)	inside rSNPs	diseases
15	nsv1026778	chr8:6962741-7646315	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
16	nsv1033870	chr8:6982258-7787721	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
17	nsv1024626	chr8:6982258-7832042	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
18	nsv1018664	chr8:6988456-7759581	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
19	nsv1027505	chr8:6988456-7787950	Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
20	nsv1033780	chr8:6995105-7798839	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
21	nsv1022721	chr8:6995105-7827355	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
22	nsv1019285	chr8:6995105-7866150	Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
23	nsv1029651	chr8:6999220-7646315	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
24	nsv429851	chr8:6999220-7690324	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
25	nsv1031433	chr8:6999220-7696249	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
26	nsv1017546	chr8:6999220-7752131	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
27	nsv1034907	chr8:6999220-7787950	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
28	nsv1020956	chr8:6999220-7809894	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
29	nsv1022598	chr8:6999220-7832042	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
30	esv1794401	chr8:6999220-7838774	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
31	nsv916708	chr8:7000480-7752596	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
32	nsv1027999	chr8:7010868-7744052	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
33	nsv1021612	chr8:7010868-7747687	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
34	nsv1016407	chr8:7010868-7787950	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
35	nsv1017046	chr8:7010868-7798839	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
36	nsv1019874	chr8:7010868-7832042	Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
37	nsv1022570	chr8:7010868-7866150	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
38	nsv917410	chr8:7029977-8009192	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	76 gene(s)	inside rSNPs	diseases
39	nsv1029407	chr8:7029978-7646315	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
40	nsv1016058	chr8:7029978-7754380	Enhancers Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
41	nsv1017553	chr8:7029978-7759581	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
42	nsv1030845	chr8:7029978-7777064	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
43	nsv1021363	chr8:7029978-7777159	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
44	nsv1017827	chr8:7029978-7783150	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
45	nsv1031298	chr8:7029978-7787950	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
46	nsv1017258	chr8:7029978-7798839	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
47	nsv1027675	chr8:7029978-7809894	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
48	nsv1024127	chr8:7029978-7826910	Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
49	nsv1017423	chr8:7029978-7832042	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
50	nsv1028409	chr8:7029978-7838837	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:7641200-7641600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:7641200-7641600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:7641200-7641600	Active TSS	Primary T cells fromperipheralblood	blood
4	chr8:7641200-7641600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:7641200-7641600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:7641200-7641600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:7641200-7641600	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr8:7641200-7641600	Active TSS	Stomach Smooth Muscle	stomach

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