Variant report

Variant	rs3762034
Chromosome Location	chr8:8752581-8752582
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	STAT3	chr8:8752519-8752617	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8748349..8752697-chr8:8864961..8869329,4	K562	blood:
2	chr8:8707079..8709143-chr8:8751442..8753018,2	MCF-7	breast:
3	chr8:8715858..8717945-chr8:8749655..8752629,2	K562	blood:

Variant related genes	Relation type
RNU6-682P	TF binding region
MFHAS1	TF binding region
ENSG00000104626	Chromatin interaction
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12114511	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13254041	0.81[ASN][1000 genomes]
rs13260641	0.85[ASN][1000 genomes]
rs13263327	0.81[ASN][1000 genomes]
rs13265597	0.85[ASN][1000 genomes]
rs13268804	0.85[ASN][1000 genomes]
rs170755	0.81[EUR][1000 genomes]
rs17154872	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17154876	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28573701	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28626220	0.85[ASN][1000 genomes]
rs28663650	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34315433	0.83[ASN][1000 genomes]
rs34470797	0.85[ASN][1000 genomes]
rs34695890	0.85[ASN][1000 genomes]
rs35060319	0.85[ASN][1000 genomes]
rs36045355	0.82[ASN][1000 genomes]
rs3762032	1.00[ASN][1000 genomes]
rs3762033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840373	0.99[ASN][1000 genomes]
rs4841061	0.85[ASN][1000 genomes]
rs4841062	0.85[ASN][1000 genomes]
rs4841063	0.85[ASN][1000 genomes]
rs4841065	0.82[ASN][1000 genomes]
rs4841066	0.92[ASN][1000 genomes]
rs59934392	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6601268	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73192215	0.81[ASN][1000 genomes]
rs7812459	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9942753	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv818595	chr8:8712895-8752684	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv610190	chr8:8744240-8766881	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv1803827	chr8:8745741-8758058	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv1825921	chr8:8745741-8758058	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv1835162	chr8:8745741-8758058	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv1805100	chr8:8747894-8752684	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv1824559	chr8:8748032-8752587	Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv3371289	chr8:8748742-8753140	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv1803776	chr8:8749969-8752587	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv1794346	chr8:8749969-8752684	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv1795923	chr8:8749969-8752684	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv1808789	chr8:8749969-8752684	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv1809138	chr8:8749969-8752684	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv1824549	chr8:8749969-8752684	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	esv1837898	chr8:8749969-8752684	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	esv1838309	chr8:8749969-8752684	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	esv1838060	chr8:8749969-8765165	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	esv1814108	chr8:8749990-8769708	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8751400-8752800	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr8:8751600-8752600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:8751600-8753000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:8751600-8753200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr8:8751600-8775000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:8751800-8752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:8751800-8752600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:8751800-8752800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:8751800-8752800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:8751800-8752800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:8751800-8753000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:8751800-8753000	Enhancers	K562	blood
13	chr8:8751800-8753200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:8751800-8753200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr8:8751800-8753200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:8751800-8753200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr8:8751800-8753200	Enhancers	Fetal Thymus	thymus
18	chr8:8751800-8753200	Enhancers	HepG2	liver
19	chr8:8751800-8753400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr8:8751800-8755200	Weak transcription	Fetal Heart	heart
21	chr8:8751800-8756200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:8751800-8756800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:8751800-8756800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:8751800-8757800	Weak transcription	Small Intestine	intestine
25	chr8:8751800-8759000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:8752000-8752600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:8752000-8752800	Enhancers	Dnd41	blood
28	chr8:8752000-8753200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:8752000-8753400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:8752000-8755400	Weak transcription	Fetal Lung	lung
31	chr8:8752000-8756400	Weak transcription	Thymus	Thymus
32	chr8:8752000-8757000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:8752200-8756800	Weak transcription	Fetal Intestine Small	intestine
34	chr8:8752200-8758200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:8752200-8759000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:8752400-8752800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:8752400-8752800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:8752400-8753000	Enhancers	Placenta	Placenta
39	chr8:8752400-8753200	Enhancers	Primary T cells from cord blood	blood
40	chr8:8752400-8753200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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