Variant report

Variant	rs4598291
Chromosome Location	chr8:1869988-1869989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
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	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]
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[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];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]
rs7386016	1.00[CHB][hapmap];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:18 , 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	nsv470167	chr8:1746949-1886640	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv465277	chr8:1746950-1888447	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases
11	nsv609533	chr8:1746950-1888447	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	nsv831207	chr8:1803355-1888324	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
17	nsv889730	chr8:1821516-1883352	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1841000-1877600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:1845400-1879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:1845400-1908000	Weak transcription	Right Atrium	heart
4	chr8:1854200-1872000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:1857000-1890600	Weak transcription	Psoas Muscle	Psoas
6	chr8:1858200-1872000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:1858400-1870200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:1858400-1872800	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:1858400-1873200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:1859800-1871800	Weak transcription	Osteobl	bone
11	chr8:1860400-1876400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:1860600-1878000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:1860800-1871800	Weak transcription	Aorta	Aorta
14	chr8:1860800-1872400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:1862200-1880400	Weak transcription	Fetal Heart	heart
16	chr8:1862600-1872200	Weak transcription	Left Ventricle	heart
17	chr8:1862600-1873400	Weak transcription	Ovary	ovary
18	chr8:1863200-1871800	Weak transcription	Right Ventricle	heart
19	chr8:1863400-1872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:1863800-1871800	Weak transcription	HSMMtube	muscle
21	chr8:1864400-1871800	Weak transcription	Gastric	stomach
22	chr8:1864400-1872000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:1864400-1872200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:1864400-1873400	Weak transcription	Pancreas	Pancrea
25	chr8:1865800-1871600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:1865800-1872000	Weak transcription	Fetal Brain Male	brain
27	chr8:1865800-1872000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:1866000-1871600	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:1866400-1871600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:1866400-1871600	Weak transcription	Brain Anterior Caudate	brain
31	chr8:1866400-1871800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:1866600-1870600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:1866600-1871200	Weak transcription	NHEK	skin
34	chr8:1867000-1883600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr8:1867400-1871800	Weak transcription	Spleen	Spleen
36	chr8:1867400-1873400	Weak transcription	NHDF-Ad	bronchial
37	chr8:1867400-1883400	Weak transcription	Hela-S3	cervix
38	chr8:1867800-1870600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr8:1867800-1871800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:1867800-1871800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:1867800-1871800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:1867800-1871800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:1867800-1871800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:1867800-1871800	Weak transcription	Adipose Nuclei	Adipose
45	chr8:1867800-1871800	Weak transcription	HUVEC	blood vessel
46	chr8:1867800-1872000	Weak transcription	Lung	lung
47	chr8:1868000-1870400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:1868000-1870600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:1868000-1871200	Weak transcription	HSMM	muscle
50	chr8:1868000-1871600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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