Variant report

Variant	rs138290603
Chromosome Location	chr8:86781097-86781098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr8:86780991-86781999	K562	blood:	n/a	n/a
2	SIN3AK20	chr8:86781033-86781181	HepG2	liver:	n/a	n/a
3	PAX5	chr8:86781010-86781980	GM12878	blood:	n/a	n/a
4	ZBTB33	chr8:86780968-86781999	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:86781085-86781976	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:86780998-86781966	Hela-S3	cervix:	n/a	n/a
7	EP300	chr8:86780988-86781999	GM12878	blood:	n/a	n/a
8	ZBTB33	chr8:86780980-86782002	GM12878	blood:	n/a	n/a
9	SIX5	chr8:86781010-86782007	K562	blood:	n/a	n/a
10	SP1	chr8:86780978-86786683	HepG2	liver:	n/a	n/a
11	POLR2A	chr8:86781012-86781564	H1-hESC	embryonic stem cell:	n/a	n/a
12	PAX5	chr8:86780956-86782001	GM12878	blood:	n/a	n/a
13	SPI1	chr8:86781059-86781574	GM12878	blood:	n/a	n/a
14	EBF1	chr8:86781019-86781978	GM12878	blood:	n/a	n/a
15	RXRA	chr8:86780998-86781996	HepG2	liver:	n/a	n/a
16	BATF	chr8:86780999-86784881	GM12878	blood:	n/a	n/a
17	USF1	chr8:86781027-86782012	HepG2	liver:	n/a	n/a
18	TAF1	chr8:86781001-86781978	Hela-S3	cervix:	n/a	n/a
19	USF1	chr8:86781026-86783812	HepG2	liver:	n/a	n/a
20	PAX5	chr8:86781014-86781940	GM12878	blood:	n/a	n/a
21	REST	chr8:86781034-86781599	PANC-1	pancreas:	n/a	n/a
22	SIX5	chr8:86780978-86786577	GM12878	blood:	n/a	n/a
23	BCL11A	chr8:86780992-86781998	GM12878	blood:	n/a	n/a
24	SPI1	chr8:86781002-86782015	GM12878	blood:	n/a	n/a
25	EBF1	chr8:86781006-86782003	GM12878	blood:	n/a	n/a
26	SIX5	chr8:86781017-86781989	K562	blood:	n/a	n/a
27	GABPA	chr8:86781029-86781599	Hela-S3	cervix:	n/a	n/a
28	RXRA	chr8:86780966-86784734	GM12878	blood:	n/a	n/a
29	FOSL2	chr8:86780992-86782009	HepG2	liver:	n/a	n/a
30	BATF	chr8:86781001-86781950	GM12878	blood:	n/a	n/a
31	HEY1	chr8:86781022-86781983	HepG2	liver:	n/a	n/a
32	GABPA	chr8:86781012-86782035	Hela-S3	cervix:	n/a	n/a
33	PBX3	chr8:86781023-86781559	GM12878	blood:	n/a	n/a
34	PBX3	chr8:86781026-86781187	GM12878	blood:	n/a	n/a
35	BHLHE40	chr8:86781030-86781593	HepG2	liver:	n/a	n/a
36	BCL11A	chr8:86781027-86781888	GM12878	blood:	n/a	n/a
37	TCF12	chr8:86781009-86781992	GM12878	blood:	n/a	n/a
38	IRF4	chr8:86780969-86786683	GM12878	blood:	n/a	n/a
39	RXRA	chr8:86780776-86786582	HepG2	liver:	n/a	n/a
40	ZBTB33	chr8:86780982-86784862	HepG2	liver:	n/a	n/a
41	TAF1	chr8:86781041-86784890	Hela-S3	cervix:	n/a	n/a
42	TCF3	chr8:86781031-86782025	GM12878	blood:	n/a	n/a
43	POU2F2	chr8:86780975-86786683	GM12878	blood:	n/a	chr8:86782309-86782331
44	JUND	chr8:86781012-86781615	HepG2	liver:	n/a	n/a
45	SP1	chr8:86780985-86786748	GM12878	blood:	n/a	n/a
46	SP1	chr8:86780994-86781990	GM12878	blood:	n/a	n/a
47	ZBTB33	chr8:86780977-86786684	K562	blood:	n/a	n/a
48	EP300	chr8:86781028-86781611	GM12878	blood:	n/a	n/a
49	ZBTB33	chr8:86781008-86786666	K562	blood:	n/a	n/a
50	POLR2A	chr8:86780995-86781986	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
REXO1L9P	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv1807380	chr8:86405478-86886412	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv1829254	chr8:86405478-86886412	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv1831796	chr8:86405478-86886412	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv1807498	chr8:86405478-86986703	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv1828364	chr8:86405478-86986703	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv1831268	chr8:86405478-86986703	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv1844000	chr8:86405478-86986703	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	esv1851686	chr8:86405478-86986703	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv427824	chr8:86405478-86986703	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	esv2758162	chr8:86405478-87055053	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	esv2759624	chr8:86405478-87055053	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
15	nsv1030668	chr8:86491767-86785757	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1018855	chr8:86505353-86785757	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv1032292	chr8:86511775-86785757	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
18	nsv1028757	chr8:86515849-86785757	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
19	nsv1031512	chr8:86515849-86847889	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
20	nsv891134	chr8:86518484-86809706	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
21	nsv8362	chr8:86538750-86842279	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
22	esv1821088	chr8:86550638-86831750	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
23	esv1813849	chr8:86551959-86840811	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
24	esv1825508	chr8:86551959-86840811	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
25	esv1806242	chr8:86552159-86840382	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
26	esv1827662	chr8:86552159-86840382	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
27	esv1827990	chr8:86552159-86840382	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
28	esv1849776	chr8:86552159-86840382	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
29	esv1814282	chr8:86553525-86840811	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
30	esv1815039	chr8:86553725-86840382	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
31	nsv891135	chr8:86553992-86839183	Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
32	nsv891136	chr8:86553992-86841229	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	8 gene(s)	inside rSNPs	diseases
33	esv1843763	chr8:86554284-86840811	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
34	esv1848299	chr8:86554484-86840382	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
35	esv1829121	chr8:86555276-86840496	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
36	esv1848776	chr8:86555276-86840811	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
37	esv1849601	chr8:86555984-86809647	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
38	nsv917207	chr8:86558712-86782151	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Active TSS	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
39	nsv428518	chr8:86561696-86829653	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island	7 gene(s)	inside rSNPs	diseases
40	esv1008777	chr8:86766150-86831198	Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
41	esv3335234	chr8:86766150-86841962	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
42	esv3398568	chr8:86766150-86841962	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
43	esv3416964	chr8:86766150-86841962	Enhancers ZNF genes & repeats Active TSS Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
44	esv3435553	chr8:86766150-86841962	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
45	esv3435850	chr8:86766150-86841962	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
46	esv3447652	chr8:86766150-86841962	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
47	nsv831379	chr8:86766160-86841646	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
48	nsv820555	chr8:86766203-86840712	Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
49	esv18585	chr8:86766203-86841910	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
50	nsv482395	chr8:86766289-86986303	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
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