Variant report

Variant	rs4870931
Chromosome Location	chr8:120738985-120738986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10086913	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10092747	0.83[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs10094587	0.81[YRI][hapmap]
rs10095282	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs10096486	0.80[ASN][1000 genomes]
rs10096846	0.86[JPT][hapmap]
rs10101278	0.86[JPT][hapmap]
rs10103058	0.81[YRI][hapmap]
rs10103886	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs10108071	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10109513	0.80[ASN][1000 genomes]
rs10109951	0.83[JPT][hapmap]
rs10110601	0.83[JPT][hapmap]
rs10216503	0.87[YRI][hapmap]
rs1055130	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1055131	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs1055133	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs10955941	0.85[YRI][hapmap]
rs12542706	0.83[JPT][hapmap]
rs12543087	0.83[JPT][hapmap]
rs12681402	0.81[YRI][hapmap]
rs12707876	0.82[ASN][1000 genomes]
rs12707880	0.83[JPT][hapmap]
rs13252708	0.82[ASN][1000 genomes]
rs13253139	0.82[ASN][1000 genomes]
rs13257316	0.84[YRI][hapmap]
rs13261032	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs13262434	0.83[JPT][hapmap]
rs13268676	0.82[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs13270831	0.83[JPT][hapmap]
rs13272214	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs13279398	0.84[YRI][hapmap]
rs14027	0.86[JPT][hapmap]
rs1433951	0.83[JPT][hapmap]
rs1433952	0.82[ASN][1000 genomes]
rs1469755	0.81[ASN][1000 genomes]
rs1509348	0.82[ASN][1000 genomes]
rs1567358	0.83[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs1567359	0.83[JPT][hapmap]
rs16893071	0.82[ASN][1000 genomes]
rs16893077	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs16893101	0.83[JPT][hapmap]
rs16893104	0.81[ASN][1000 genomes]
rs16893109	0.80[ASN][1000 genomes]
rs16893113	0.81[JPT][hapmap]
rs16893140	0.80[JPT][hapmap]
rs1828238	0.83[JPT][hapmap]
rs1976575	0.83[JPT][hapmap]
rs2043430	0.83[JPT][hapmap]
rs2043431	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs2048239	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2136375	0.85[ASN][1000 genomes]
rs2164022	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2289011	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2326377	0.86[JPT][hapmap]
rs2326378	0.86[JPT][hapmap]
rs2634	0.83[JPT][hapmap]
rs28421406	0.81[ASN][1000 genomes]
rs28576821	0.81[ASN][1000 genomes]
rs28665481	0.81[ASN][1000 genomes]
rs28711081	0.80[ASN][1000 genomes]
rs34070855	0.82[ASN][1000 genomes]
rs35148850	0.82[AMR][1000 genomes]
rs35449013	0.81[ASN][1000 genomes]
rs35521072	0.81[ASN][1000 genomes]
rs3812463	0.86[JPT][hapmap]
rs4073560	0.81[YRI][hapmap]
rs4380974	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871013	0.81[YRI][hapmap]
rs4871577	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871578	0.83[JPT][hapmap]
rs4871587	0.96[CEU][hapmap]
rs4871595	0.83[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs4871597	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4871629	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs4871634	0.86[JPT][hapmap]
rs4871648	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs4871772	0.81[YRI][hapmap]
rs4871773	0.81[YRI][hapmap]
rs6469841	0.81[ASN][1000 genomes]
rs6469846	0.82[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs6469849	0.86[JPT][hapmap]
rs6469852	0.86[JPT][hapmap]
rs6469853	0.86[JPT][hapmap]
rs6469861	0.81[YRI][hapmap]
rs6469863	0.81[YRI][hapmap]
rs6469868	0.81[YRI][hapmap]
rs6469871	0.81[YRI][hapmap]
rs6469872	0.81[YRI][hapmap]
rs6982522	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6983932	0.86[JPT][hapmap]
rs6987099	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6988011	0.81[YRI][hapmap]
rs6989559	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs6989791	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs6992632	0.80[ASN][1000 genomes]
rs6994604	0.81[ASN][1000 genomes]
rs6995139	0.81[YRI][hapmap]
rs6997976	0.81[ASN][1000 genomes]
rs7002839	0.81[YRI][hapmap]
rs7005200	0.80[ASN][1000 genomes]
rs7009073	0.83[JPT][hapmap]
rs7011974	0.83[JPT][hapmap]
rs7012857	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7015470	0.84[YRI][hapmap]
rs7017010	0.83[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs7017279	0.86[JPT][hapmap]
rs7387264	0.81[YRI][hapmap]
rs7388508	0.81[YRI][hapmap]
rs7462250	0.81[YRI][hapmap]
rs7465181	0.81[YRI][hapmap]
rs7813438	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7813651	0.83[JPT][hapmap]
rs7813680	0.91[JPT][hapmap]
rs7821501	0.83[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs7824545	0.81[YRI][hapmap]
rs7825803	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs7827482	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs7829198	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7832755	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7833112	0.83[JPT][hapmap]
rs7833490	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs7833706	0.82[AMR][1000 genomes]
rs7837213	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs7837589	0.83[JPT][hapmap]
rs7839110	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs9297604	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs9297605	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs939241	0.81[YRI][hapmap]
rs9693207	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr8:120719400-120779600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:120722200-120741400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:120730400-120743200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:120730600-120743800	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:120730600-120750800	Weak transcription	HSMMtube	muscle
6	chr8:120730800-120744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:120730800-120753600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:120731400-120742800	Weak transcription	Osteobl	bone
9	chr8:120731800-120741600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:120731800-120743800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:120733800-120741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:120733800-120768600	Weak transcription	Colonic Mucosa	Colon
13	chr8:120734200-120743600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:120734200-120743800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:120734400-120739000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:120734400-120741400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:120734400-120743400	Weak transcription	Left Ventricle	heart
18	chr8:120734400-120743600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:120734400-120743600	Weak transcription	Hela-S3	cervix
20	chr8:120734400-120744000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:120734600-120742000	Weak transcription	HSMM	muscle
22	chr8:120734600-120743600	Weak transcription	Fetal Lung	lung
23	chr8:120734600-120743800	Weak transcription	Ovary	ovary
24	chr8:120734600-120747400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:120734600-120779600	Weak transcription	Gastric	stomach
26	chr8:120734800-120739800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:120734800-120742600	Weak transcription	Liver	Liver
28	chr8:120734800-120743600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:120735000-120753800	Weak transcription	NHDF-Ad	bronchial
30	chr8:120735200-120743600	Weak transcription	HepG2	liver
31	chr8:120735200-120743600	Weak transcription	HUVEC	blood vessel
32	chr8:120735200-120754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:120735200-120756400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:120735400-120742000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:120735400-120743000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:120735400-120743400	Weak transcription	Fetal Intestine Large	intestine
37	chr8:120735400-120743600	Weak transcription	Adipose Nuclei	Adipose
38	chr8:120735600-120742800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:120735600-120743600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:120735600-120744000	Weak transcription	Small Intestine	intestine
41	chr8:120735600-120748200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr8:120736200-120743800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:120736200-120743800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:120736400-120767200	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:120736600-120743400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:120736600-120743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:120736600-120746200	Weak transcription	Brain Substantia Nigra	brain
48	chr8:120736600-120779600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:120736600-120779800	Weak transcription	Aorta	Aorta
50	chr8:120736600-120779800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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