Variant report

Variant	rs12680957
Chromosome Location	chr8:1876021-1876022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17064390	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2272611	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779703	0.86[ASN][1000 genomes]
rs7826362	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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
19	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
20	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
21	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:95 , 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	chr8:1857000-1890600	Weak transcription	Psoas Muscle	Psoas
5	chr8:1860400-1876400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:1860600-1878000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:1862200-1880400	Weak transcription	Fetal Heart	heart
8	chr8:1867000-1883600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:1867400-1883400	Weak transcription	Hela-S3	cervix
10	chr8:1868000-1878400	Weak transcription	Esophagus	oesophagus
11	chr8:1868000-1902400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:1868400-1876600	Weak transcription	Fetal Intestine Large	intestine
13	chr8:1868400-1878800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:1868800-1890400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:1869000-1889400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:1869000-1891800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:1869200-1890200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:1869800-1890400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:1870600-1877800	Weak transcription	Fetal Brain Female	brain
20	chr8:1871400-1885800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:1871600-1881400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:1871600-1889000	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr8:1871600-1907400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:1871800-1877600	Strong transcription	Osteobl	bone
25	chr8:1871800-1878200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:1871800-1880200	Strong transcription	Right Ventricle	heart
27	chr8:1871800-1880400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:1871800-1881000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:1871800-1881000	Strong transcription	Aorta	Aorta
30	chr8:1871800-1886000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:1871800-1887200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:1871800-1889000	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr8:1871800-1889400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:1872000-1879400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:1872000-1880200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:1872000-1885600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:1872000-1886200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:1872200-1876200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr8:1872200-1878000	Weak transcription	Brain Germinal Matrix	brain
40	chr8:1872200-1878200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:1872200-1878200	Strong transcription	Left Ventricle	heart
42	chr8:1872200-1878400	Strong transcription	HUVEC	blood vessel
43	chr8:1872400-1885200	Weak transcription	Fetal Brain Male	brain
44	chr8:1872400-1885600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:1872600-1877200	Weak transcription	Brain Substantia Nigra	brain
46	chr8:1872800-1878000	Strong transcription	Colon Smooth Muscle	Colon
47	chr8:1872800-1883200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:1873000-1880400	Weak transcription	Brain Angular Gyrus	brain
49	chr8:1873200-1876600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:1873400-1885200	Strong transcription	Ovary	ovary

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