Variant report

Variant	rs12707876
Chromosome Location	chr8:120742383-120742384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120731614..120734170-chr8:120741119..120743235,2	K562	blood:

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10086913	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs10087723	0.95[ASN][1000 genomes]
rs10095282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10096486	0.82[ASN][1000 genomes]
rs10096846	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10101278	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10102038	0.91[ASN][1000 genomes]
rs10103886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10108071	0.86[JPT][hapmap]
rs10109513	0.82[ASN][1000 genomes]
rs10109718	0.88[ASN][1000 genomes]
rs10109808	0.94[ASN][1000 genomes]
rs10109901	0.88[ASN][1000 genomes]
rs10109951	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10110061	0.89[ASN][1000 genomes]
rs10110601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10113252	0.82[ASN][1000 genomes]
rs10113562	0.89[ASN][1000 genomes]
rs10505374	0.82[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1055130	0.86[JPT][hapmap]
rs1055131	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs1055133	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs12155707	0.81[ASN][1000 genomes]
rs12542706	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12543087	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12545479	0.85[ASN][1000 genomes]
rs12707880	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13252708	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13253139	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13255420	0.97[ASN][1000 genomes]
rs13255850	0.94[ASN][1000 genomes]
rs13257002	0.96[ASN][1000 genomes]
rs13261032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13262434	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13268676	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs13270831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13272214	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs13272852	0.95[ASN][1000 genomes]
rs14027	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1433951	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1433952	0.84[ASN][1000 genomes]
rs1433953	0.93[ASN][1000 genomes]
rs1469755	0.99[ASN][1000 genomes]
rs1509348	0.84[ASN][1000 genomes]
rs1567358	0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1567359	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16893025	0.89[ASN][1000 genomes]
rs16893027	0.91[ASN][1000 genomes]
rs16893071	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893077	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16893101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16893104	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16893109	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16893113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16893140	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1828238	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1976575	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2043430	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2043431	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048239	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2063282	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2136374	0.96[ASN][1000 genomes]
rs2164022	0.81[ASN][1000 genomes]
rs2289011	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2326377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2326378	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2634	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs28421406	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28486074	0.97[ASN][1000 genomes]
rs28576821	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28634937	0.97[ASN][1000 genomes]
rs28665481	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28711081	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28715681	0.89[ASN][1000 genomes]
rs28756749	0.89[ASN][1000 genomes]
rs28827321	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs34070855	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34718068	0.88[ASN][1000 genomes]
rs35103910	0.89[ASN][1000 genomes]
rs35449013	0.99[ASN][1000 genomes]
rs35496588	0.81[ASN][1000 genomes]
rs35521072	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35660840	0.93[ASN][1000 genomes]
rs35954443	0.94[ASN][1000 genomes]
rs3812463	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4380974	0.84[ASN][1000 genomes]
rs4870931	0.82[ASN][1000 genomes]
rs4870955	0.88[ASN][1000 genomes]
rs4870956	0.81[ASN][1000 genomes]
rs4871528	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871577	0.86[JPT][hapmap]
rs4871578	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4871595	0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4871599	0.91[ASN][1000 genomes]
rs4871629	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4871634	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4871640	0.88[ASN][1000 genomes]
rs4871642	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4871648	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4871659	0.81[ASN][1000 genomes]
rs62526565	0.96[ASN][1000 genomes]
rs6469841	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469846	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs6469849	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6469852	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6469853	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs67905698	0.88[ASN][1000 genomes]
rs6983932	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6989559	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs6989791	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6992632	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994604	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6996250	0.81[ASN][1000 genomes]
rs6997976	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6998058	0.91[ASN][1000 genomes]
rs7005200	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7009073	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7011974	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7012791	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7012857	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs7017010	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7017045	0.82[ASN][1000 genomes]
rs7017279	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7813438	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7813651	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7813680	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs7821501	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7825803	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7827482	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7829198	0.83[JPT][hapmap]
rs7829390	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7832755	0.86[JPT][hapmap]
rs7833112	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7833490	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7837213	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7837589	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7839110	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7843304	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9297603	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9297604	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297605	0.83[JPT][hapmap]
rs9693207	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120719400-120779600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:120730400-120743200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:120730600-120743800	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:120730600-120750800	Weak transcription	HSMMtube	muscle
5	chr8:120730800-120744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:120730800-120753600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:120731400-120742800	Weak transcription	Osteobl	bone
8	chr8:120731800-120743800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:120733800-120768600	Weak transcription	Colonic Mucosa	Colon
10	chr8:120734200-120743600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:120734200-120743800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:120734400-120743400	Weak transcription	Left Ventricle	heart
13	chr8:120734400-120743600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:120734400-120743600	Weak transcription	Hela-S3	cervix
15	chr8:120734400-120744000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:120734600-120743600	Weak transcription	Fetal Lung	lung
17	chr8:120734600-120743800	Weak transcription	Ovary	ovary
18	chr8:120734600-120747400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:120734600-120779600	Weak transcription	Gastric	stomach
20	chr8:120734800-120742600	Weak transcription	Liver	Liver
21	chr8:120734800-120743600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:120735000-120753800	Weak transcription	NHDF-Ad	bronchial
23	chr8:120735200-120743600	Weak transcription	HepG2	liver
24	chr8:120735200-120743600	Weak transcription	HUVEC	blood vessel
25	chr8:120735200-120754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:120735200-120756400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:120735400-120743000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:120735400-120743400	Weak transcription	Fetal Intestine Large	intestine
29	chr8:120735400-120743600	Weak transcription	Adipose Nuclei	Adipose
30	chr8:120735600-120742800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr8:120735600-120743600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:120735600-120744000	Weak transcription	Small Intestine	intestine
33	chr8:120735600-120748200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:120736200-120743800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:120736200-120743800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr8:120736400-120767200	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:120736600-120743400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:120736600-120743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:120736600-120746200	Weak transcription	Brain Substantia Nigra	brain
40	chr8:120736600-120779600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:120736600-120779800	Weak transcription	Aorta	Aorta
42	chr8:120736600-120779800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:120736800-120743600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:120736800-120743600	Weak transcription	K562	blood
45	chr8:120736800-120752000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:120736800-120752200	Weak transcription	HMEC	breast
47	chr8:120737000-120742600	Weak transcription	GM12878-XiMat	blood
48	chr8:120737000-120743400	Weak transcription	Placenta	Placenta
49	chr8:120737000-120743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:120737200-120743800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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