Variant report

Variant	rs7386016
Chromosome Location	chr8:1890533-1890534
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	chr8:1890448-1890677	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:1890437-1890677	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1888469..1891151-chr8:1893688..1896485,2	K562	blood:

Variant related genes	Relation type
ARHGEF10	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1043221	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1043225	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1043226	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11136448	1.00[ASN][1000 genomes]
rs11136454	1.00[ASN][1000 genomes]
rs11136467	1.00[CHB][hapmap]
rs13257924	1.00[CHB][hapmap]
rs13260541	1.00[ASN][1000 genomes]
rs13267164	1.00[ASN][1000 genomes]
rs13271878	1.00[ASN][1000 genomes]
rs13272508	1.00[ASN][1000 genomes]
rs13276575	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13279574	1.00[ASN][1000 genomes]
rs14375	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2004869	1.00[ASN][1000 genomes]
rs28414137	1.00[ASN][1000 genomes]
rs34295832	1.00[ASN][1000 genomes]
rs36144043	1.00[ASN][1000 genomes]
rs3824186	1.00[CHB][hapmap]
rs4546706	1.00[ASN][1000 genomes]
rs4598291	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs5025039	1.00[ASN][1000 genomes]
rs6558566	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6981540	1.00[ASN][1000 genomes]
rs6984792	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6984824	1.00[ASN][1000 genomes]
rs7015556	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73184743	1.00[ASN][1000 genomes]
rs73184745	1.00[ASN][1000 genomes]
rs73184750	1.00[ASN][1000 genomes]
rs73184755	1.00[ASN][1000 genomes]
rs73184756	1.00[ASN][1000 genomes]
rs73184758	1.00[ASN][1000 genomes]
rs7386034	1.00[ASN][1000 genomes]
rs7386548	1.00[ASN][1000 genomes]
rs7386994	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7387198	1.00[ASN][1000 genomes]
rs9314443	1.00[ASN][1000 genomes]
rs9644316	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9650490	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv889717	chr8:1746950-1924237	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv889723	chr8:1756800-1904157	Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv889724	chr8:1756800-1965389	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv889729	chr8:1800560-1947417	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
13	nsv889731	chr8:1868842-1965389	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv889732	chr8:1870956-1906630	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv889733	chr8:1870992-1904157	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv889734	chr8:1870992-1906630	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1845400-1908000	Weak transcription	Right Atrium	heart
2	chr8:1857000-1890600	Weak transcription	Psoas Muscle	Psoas
3	chr8:1868000-1902400	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:1869000-1891800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:1871600-1907400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:1873800-1894800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:1880800-1906200	Weak transcription	Colonic Mucosa	Colon
8	chr8:1881000-1890600	Weak transcription	Fetal Kidney	kidney
9	chr8:1883000-1896200	Weak transcription	NH-A	brain
10	chr8:1884000-1890600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:1884200-1894200	Weak transcription	NHDF-Ad	bronchial
12	chr8:1884200-1897000	Weak transcription	Placenta	Placenta
13	chr8:1884400-1892600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:1884400-1895000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:1884400-1904800	Weak transcription	Brain Germinal Matrix	brain
16	chr8:1884600-1890600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:1884600-1891000	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:1884600-1898400	Weak transcription	Hela-S3	cervix
19	chr8:1884600-1906200	Weak transcription	A549	lung
20	chr8:1884800-1892800	Weak transcription	Brain Angular Gyrus	brain
21	chr8:1885400-1892200	Weak transcription	Pancreas	Pancrea
22	chr8:1885400-1893000	Weak transcription	Fetal Intestine Small	intestine
23	chr8:1885400-1900000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:1885800-1893400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:1885800-1894200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:1886000-1892800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:1886000-1896400	Weak transcription	HSMMtube	muscle
28	chr8:1886000-1906200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:1886400-1893600	Weak transcription	Spleen	Spleen
30	chr8:1887000-1891400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:1887000-1893800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:1887800-1892200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:1887800-1898000	Weak transcription	Left Ventricle	heart
34	chr8:1887800-1900400	Weak transcription	Gastric	stomach
35	chr8:1888000-1892400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:1888000-1892600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:1888000-1893000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:1888000-1893200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr8:1888000-1893200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:1888000-1893200	Weak transcription	NHLF	lung
41	chr8:1888000-1893400	Weak transcription	Ovary	ovary
42	chr8:1888000-1893800	Weak transcription	Lung	lung
43	chr8:1888000-1895400	Weak transcription	Esophagus	oesophagus
44	chr8:1888000-1896000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr8:1888000-1904800	Weak transcription	HMEC	breast
46	chr8:1888200-1892200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:1888200-1893200	Weak transcription	Right Ventricle	heart
48	chr8:1888200-1894400	Weak transcription	Adipose Nuclei	Adipose
49	chr8:1888200-1894600	Weak transcription	Aorta	Aorta
50	chr8:1888400-1890600	Weak transcription	Stomach Smooth Muscle	stomach

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