Variant report

Variant	rs142227636
Chromosome Location	chr8:86557193-86557194
allele	C/T
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	chr8:86557179-86557563	GM12878	blood:	n/a	n/a
2	ZBTB33	chr8:86556608-86557888	GM12878	blood:	n/a	n/a
3	PBX3	chr8:86557191-86557487	GM12878	blood:	n/a	n/a
4	SPI1	chr8:86557175-86557841	GM12878	blood:	n/a	n/a
5	EP300	chr8:86557187-86557490	GM12878	blood:	n/a	n/a
6	SP1	chr8:86556619-86557837	GM12878	blood:	n/a	n/a
7	ZBTB33	chr8:86556625-86557835	HepG2	liver:	n/a	n/a
8	GABPA	chr8:86556633-86557777	Hela-S3	cervix:	n/a	n/a
9	FOXA1	chr8:86556610-86557872	HepG2	liver:	n/a	n/a
10	SPI1	chr8:86557183-86557493	K562	blood:	n/a	n/a
11	BCL11A	chr8:86557171-86557821	GM12878	blood:	n/a	chr8:86557185-86557194
12	PAX5	chr8:86557166-86557734	GM12878	blood:	n/a	chr8:86557185-86557194
13	EP300	chr8:86556625-86557830	GM12878	blood:	n/a	n/a
14	IRF4	chr8:86556613-86557889	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:86556659-86557781	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCL11A	chr8:86556646-86557544	GM12878	blood:	n/a	chr8:86557185-86557194 chr8:86557162-86557171
17	TCF12	chr8:86556722-86557812	HepG2	liver:	n/a	n/a
18	GATA2	chr8:86556623-86557817	K562	blood:	n/a	chr8:86557185-86557195
19	SIN3AK20	chr8:86557187-86557719	HepG2	liver:	n/a	n/a
20	FOSL2	chr8:86556605-86557843	HepG2	liver:	n/a	n/a
21	SP1	chr8:86556727-86557866	HepG2	liver:	n/a	n/a
22	HEY1	chr8:86557159-86557823	K562	blood:	n/a	n/a
23	RXRA	chr8:86557167-86557848	HepG2	liver:	n/a	n/a
24	JUND	chr8:86557177-86557852	HepG2	liver:	n/a	n/a
25	ZBTB33	chr8:86556613-86557837	K562	blood:	n/a	n/a
26	EBF1	chr8:86556714-86557778	GM12878	blood:	n/a	n/a
27	POLR2A	chr8:86556635-86557428	GM12878	blood:	n/a	n/a
28	SP1	chr8:86556628-86557829	GM12878	blood:	n/a	n/a
29	TCF12	chr8:86557179-86557844	GM12878	blood:	n/a	n/a
30	FOSL2	chr8:86556569-86557863	HepG2	liver:	n/a	n/a
31	PAX5	chr8:86556591-86557907	GM12878	blood:	n/a	chr8:86557185-86557194
32	PBX3	chr8:86557179-86557480	GM12878	blood:	n/a	n/a
33	SIX5	chr8:86556630-86557822	K562	blood:	n/a	n/a
34	RXRA	chr8:86556582-86557898	HepG2	liver:	n/a	n/a
35	BHLHE40	chr8:86557188-86557731	HepG2	liver:	n/a	n/a
36	BATF	chr8:86557168-86557577	GM12878	blood:	n/a	n/a
37	POU2F2	chr8:86557192-86557483	GM12878	blood:	n/a	n/a
38	TAF1	chr8:86557173-86557480	Hela-S3	cervix:	n/a	n/a
39	POU2F2	chr8:86556610-86557875	GM12878	blood:	n/a	n/a
40	SIX5	chr8:86556719-86557801	GM12878	blood:	n/a	n/a
41	TCF12	chr8:86557173-86557847	GM12878	blood:	n/a	n/a
42	BATF	chr8:86557171-86557645	GM12878	blood:	n/a	n/a
43	SIN3AK20	chr8:86557187-86557620	HepG2	liver:	n/a	n/a
44	ZBTB33	chr8:86557172-86557628	HepG2	liver:	n/a	n/a
45	ZBTB33	chr8:86557165-86557820	K562	blood:	n/a	n/a
46	EBF1	chr8:86557173-86557769	GM12878	blood:	n/a	n/a
47	PAX5	chr8:86557188-86557535	GM12878	blood:	n/a	n/a
48	ZBTB33	chr8:86556621-86557837	GM12878	blood:	n/a	n/a
49	TCF3	chr8:86556622-86557829	GM12878	blood:	n/a	n/a
50	IRF4	chr8:86556598-86557855	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
REXO1L8P	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:63 , 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	nsv831378	chr8:86433343-86569655	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv891123	chr8:86434228-86572238	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv891125	chr8:86453838-86778025	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv1021081	chr8:86463617-86557401	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	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
19	nsv1019477	chr8:86468856-86557401	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv891128	chr8:86470188-86560123	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv1032291	chr8:86476036-86557401	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv891130	chr8:86490859-86572238	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv1017417	chr8:86491767-86557401	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	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
25	nsv891131	chr8:86501203-86560123	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
26	nsv891133	chr8:86505353-86770710	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
27	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
28	nsv1016874	chr8:86510282-86557401	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
29	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
30	nsv1026507	chr8:86515849-86557401	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
31	nsv611666	chr8:86515849-86557500	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
32	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
33	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
34	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
35	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
36	nsv442112	chr8:86539521-86557413	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
37	nsv971676	chr8:86550441-86559475	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	esv13411	chr8:86552335-86576414	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
46	nsv471542	chr8:86552570-86574324	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
47	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
48	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
49	esv3386586	chr8:86553800-86576451	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
50	esv3386620	chr8:86553800-86576451	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases

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dbSNP/dbVar ID: rs12345 /nsv7879
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