Variant report

Variant	rs113071926
Chromosome Location	chr8:11973071-11973072
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	PAX5	chr8:11972971-11973575	GM12878	blood:	n/a	n/a
2	CTCF	chr8:11973052-11973442	K562	blood:	n/a	chr8:11973230-11973248 chr8:11973225-11973246 chr8:11973244-11973260 chr8:11973245-11973266 chr8:11973243-11973261
3	FOSL2	chr8:11973043-11973474	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:11972997-11974001	GM12892	blood:	n/a	n/a
5	POLR2A	chr8:11973061-11973565	SK-N-MC	brain:	n/a	n/a
6	CTCF	chr8:11972977-11973566	SK-N-SH	brain:	n/a	chr8:11973230-11973248 chr8:11973225-11973246 chr8:11973244-11973260 chr8:11973245-11973266 chr8:11973243-11973261
7	CTCF	chr8:11973017-11973479	A549	lung:	n/a	chr8:11973230-11973248 chr8:11973225-11973246 chr8:11973244-11973260 chr8:11973245-11973266 chr8:11973243-11973261
8	CTCF	chr8:11973059-11973435	GM12878	blood:	n/a	chr8:11973230-11973248 chr8:11973225-11973246 chr8:11973244-11973260 chr8:11973245-11973266 chr8:11973243-11973261
9	CTCF	chr8:11973024-11973465	A549	lung:	n/a	chr8:11973230-11973248 chr8:11973225-11973246 chr8:11973244-11973260 chr8:11973245-11973266 chr8:11973243-11973261
10	FOXA1	chr8:11972997-11973324	HepG2	liver:	n/a	n/a
11	POLR2A	chr8:11972999-11974044	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr8:11973061-11973421	K562	blood:	n/a	chr8:11973230-11973248 chr8:11973225-11973246 chr8:11973244-11973260 chr8:11973245-11973266 chr8:11973243-11973261
13	RXRA	chr8:11973002-11973460	GM12878	blood:	n/a	chr8:11973228-11973248 chr8:11973243-11973263
14	CTCF	chr8:11972889-11973572	A549	lung:	n/a	chr8:11973230-11973248 chr8:11973225-11973246 chr8:11973244-11973260 chr8:11973245-11973266 chr8:11973243-11973261
15	IRF4	chr8:11973000-11973416	GM12878	blood:	n/a	n/a
16	CTCF	chr8:11973070-11973518	K562	blood:	n/a	chr8:11973230-11973248 chr8:11973225-11973246 chr8:11973244-11973260 chr8:11973245-11973266 chr8:11973243-11973261
17	GATA2	chr8:11972984-11973395	K562	blood:	n/a	n/a
18	SMC3	chr8:11972976-11973482	SK-N-SH	brain:	n/a	chr8:11973245-11973259
19	POU2F2	chr8:11973037-11974413	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11973029-11973079	HIPEpiC	eye:	n/a
2	chr8:11973029-11973079	H1-hESC	embryonic stem cell:	embryo
3	chr8:11973029-11973079	HMEC	breast:	n/a
4	chr8:11973029-11973079	AG09319	gingival:	n/a
5	chr8:11973029-11973079	SK-N-SH_RA	brain:	n/a
6	chr8:11973029-11973079	LNCaP	prostate:	n/a
7	chr8:11973029-11973079	HRE	kidney:	n/a
8	chr8:11973029-11973079	Jurkat	blood:	n/a
9	chr8:11973029-11973079	AG10803	skin:	n/a
10	chr8:11973029-11973079	HCM	heart:	n/a
11	chr8:11973029-11973079	NT2-D1	testis:	n/a
12	chr8:11973029-11973079	IMR90	lung:	fetal
13	chr8:11973029-11973079	HNPCEpiC	eye:	n/a
14	chr8:11973029-11973079	GM12891	blood:	n/a
15	chr8:11973029-11973079	K562	blood:	n/a
16	chr8:11973029-11973079	PrEC	prostate:	n/a
17	chr8:11973029-11973079	MCF10A-Er-Src	breast:	n/a
18	chr8:11973029-11973079	PFSK-1	brain:	n/a
19	chr8:11973029-11973079	NB4	blood:	n/a
20	chr8:11973029-11973079	T-47D	breast:	n/a
21	chr8:11973029-11973079	AoSMC	blood vessel:	n/a
22	chr8:11973029-11973079	NHDF-neo	bronchial:	n/a
23	chr8:11973029-11973079	HCT-116	colon:	n/a
24	chr8:11973029-11973079	HRCEpiC	kidney:	n/a
25	chr8:11973029-11973079	Caco-2	colon:	n/a
26	chr8:11973029-11973079	ECC-1	luminal epithelium:	n/a
27	chr8:11973029-11973079	GM19239	blood:	n/a
28	chr8:11973029-11973079	Hepatocyte	liver:	n/a
29	chr8:11973029-11973079	GM12892	blood:	n/a
30	chr8:11973029-11973079	NHBE	bronchial:	n/a
31	chr8:11973029-11973079	HAEpiC	amniotic membrane:	n/a
32	chr8:11973029-11973079	HCF	heart:	n/a
33	chr8:11973029-11973079	AG09309	skin:	n/a
34	chr8:11973029-11973079	HEEpiC	esophagus:	n/a
35	chr8:11973029-11973079	PANC-1	pancreas:	n/a
36	chr8:11973029-11973079	SAEC	small airway:	n/a
37	chr8:11973029-11973079	HCPEpiC	choroid plexus:	n/a
38	chr8:11973029-11973079	CMK	blood:	n/a
39	chr8:11973029-11973079	SKMC	muscle:	n/a
40	chr8:11973029-11973079	GM06990	blood:	n/a
41	chr8:11973029-11973079	ProgFib	skin:	n/a
42	chr8:11973029-11973079	MCF-7	breast:	n/a
43	chr8:11973029-11973079	ovcar-3	ovarian:	n/a
44	chr8:11973029-11973079	BJ	skin:	n/a
45	chr8:11973029-11973079	U87	brain:	n/a
46	chr8:11973029-11973079	AG04449	skin:	fetal
47	chr8:11973029-11973079	SK-N-MC	brain:	n/a
48	chr8:11973029-11973079	SK-N-SH	brain:	n/a
49	chr8:11973029-11973079	HPAEpiC	pulmonary alveolar:	n/a
50	chr8:11973029-11973079	AG04450	lung:	fetal

Variant related genes	Relation type
FAM66D	TF binding region
FAM66D	CpG island

Extended variants
information (count: 114 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	nsv516685	chr8:11698747-12570199	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
3	esv2758148	chr8:11741558-12567301	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
4	nsv427815	chr8:11741558-12567301	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
5	nsv428195	chr8:11741558-12567301	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
6	esv2759593	chr8:11741558-12601971	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	nsv491752	chr8:11758865-12467543	Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
8	nsv917210	chr8:11805761-12404066	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
9	esv2757259	chr8:11845324-12601971	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	esv2753066	chr8:11859740-12443162	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
11	nsv471341	chr8:11860822-12059955	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv471476	chr8:11860822-12059955	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv471480	chr8:11860822-12059955	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv471482	chr8:11860822-12059955	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	esv1818548	chr8:11861778-12436645	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
16	nsv1026586	chr8:11861797-12327510	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
17	nsv1018208	chr8:11861797-12443043	ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
18	nsv1035061	chr8:11861797-12552839	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
19	nsv967564	chr8:11861807-11996811	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv1017225	chr8:11877195-12198242	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	nsv1022300	chr8:11877195-12443043	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
22	nsv1021066	chr8:11877195-12554743	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
23	esv2761239	chr8:11877195-12566650	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
24	esv2764095	chr8:11877195-12578090	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	60 gene(s)	inside rSNPs	diseases
25	nsv1018919	chr8:11881847-12327510	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
26	nsv1026829	chr8:11881847-12371371	Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
27	nsv1016045	chr8:11881847-12390152	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
28	esv1798391	chr8:11881847-12443043	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
29	nsv1021915	chr8:11881847-12443043	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
30	nsv1031187	chr8:11881847-12473870	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
31	esv1792538	chr8:11888999-12026635	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
32	nsv1017245	chr8:11893228-12232269	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
33	nsv1029275	chr8:11893228-12247474	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
34	nsv1015618	chr8:11893228-12260961	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
35	nsv1031152	chr8:11893228-12311626	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
36	nsv1016289	chr8:11893228-12403152	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
37	nsv1020825	chr8:11893228-12422008	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
38	nsv1023844	chr8:11893228-12443043	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
39	nsv1028731	chr8:11893228-12554743	Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
40	nsv1023638	chr8:11893228-12578078	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
41	nsv1027834	chr8:11895233-12403152	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
42	esv15075	chr8:11896344-12034962	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
43	nsv1032333	chr8:11897177-12234239	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
44	nsv1021427	chr8:11897177-12362636	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
45	nsv1022425	chr8:11897177-12443043	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
46	esv2626363	chr8:11899124-12174317	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
47	esv1796400	chr8:11900948-12496460	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
48	nsv429861	chr8:11904491-12443129	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
49	esv2752661	chr8:11904529-12443162	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
50	esv2752779	chr8:11904529-12443162	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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