Variant report

Variant	rs1347626
Chromosome Location	chr8:117656781-117656782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117646178..117650015-chr8:117654709..117657673,3	K562	blood:
2	chr8:117655980..117658545-chr8:117680933..117683452,2	K562	blood:
3	chr8:117646435..117648645-chr8:117656043..117658765,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10085939	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10086419	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10088177	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10093551	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10096134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105610	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10112604	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10505282	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505286	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs10505287	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10808484	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11781970	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12547058	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1317271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13258529	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13262725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277714	0.81[AMR][1000 genomes]
rs13277958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1436765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1436766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1529945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17811708	1.00[LWK][hapmap]
rs2118108	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3088140	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs34519652	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35338453	0.81[AMR][1000 genomes]
rs35905748	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4256624	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4278180	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4289846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4289847	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4335152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4335153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4422805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4472547	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4601347	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4623456	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4629900	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4645587	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs55951040	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469656	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6469657	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980504	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983032	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6988841	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7007250	0.81[AMR][1000 genomes]
rs7013617	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7464414	0.82[AMR][1000 genomes]
rs7820778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821132	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7830860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7833054	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7836549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7837313	1.00[YRI][hapmap]
rs7843852	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846316	1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117636400-117670800	Weak transcription	Pancreas	Pancrea
2	chr8:117640600-117662000	Weak transcription	Fetal Brain Female	brain
3	chr8:117641200-117665600	Weak transcription	Fetal Brain Male	brain
4	chr8:117644000-117657600	Weak transcription	NHEK	skin
5	chr8:117647200-117677800	Weak transcription	Gastric	stomach
6	chr8:117647600-117658400	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:117648000-117667400	Weak transcription	Fetal Heart	heart
8	chr8:117649000-117670000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:117649000-117670400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:117650400-117658000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:117650400-117665600	Weak transcription	Brain Anterior Caudate	brain
12	chr8:117650400-117666600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:117650600-117658000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:117650600-117662000	Weak transcription	Brain Substantia Nigra	brain
15	chr8:117650600-117662800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:117651200-117656800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:117651200-117657600	Weak transcription	NHDF-Ad	bronchial
18	chr8:117651200-117658200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:117651200-117675000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:117651400-117657400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:117651400-117670400	Weak transcription	Psoas Muscle	Psoas
22	chr8:117652400-117657000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:117652400-117669200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:117652600-117656800	Weak transcription	HUVEC	blood vessel
25	chr8:117652600-117660200	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:117652600-117662200	Weak transcription	Spleen	Spleen
27	chr8:117652800-117670400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:117653000-117657200	Weak transcription	K562	blood
29	chr8:117653800-117656800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:117653800-117656800	Weak transcription	HSMMtube	muscle
31	chr8:117653800-117657600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:117653800-117662000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:117654000-117657200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:117654000-117657600	Weak transcription	Fetal Kidney	kidney
35	chr8:117654000-117659000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:117654000-117665400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:117654000-117672600	Weak transcription	Esophagus	oesophagus
38	chr8:117654200-117656800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:117654400-117656800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:117654400-117656800	Weak transcription	NH-A	brain
41	chr8:117654400-117665000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr8:117654600-117657200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:117654600-117662000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:117654600-117675200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:117654600-117715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:117654800-117659000	Strong transcription	Primary B cells from cord blood	blood
47	chr8:117655000-117656800	Weak transcription	Osteobl	bone
48	chr8:117655000-117659000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:117655000-117659000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:117655000-117668200	Strong transcription	Dnd41	blood

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