Variant report

Variant	rs11786705
Chromosome Location	chr8:131354091-131354092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:131354088-131354472	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr8:131354041-131354277	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131346527..131349689-chr8:131353512..131358068,4	K562	blood:
2	chr8:131354026..131357067-chr8:131366453..131369277,3	K562	blood:

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10091130	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10109236	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10505548	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes]
rs10505549	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10956513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs10956515	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10956517	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10956525	0.82[CEU][hapmap]
rs11779014	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11781752	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12541083	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12547397	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12675390	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12676836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12679283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12681954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12681955	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1417007	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1469286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1549455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16893271	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16904208	0.86[AFR][1000 genomes]
rs16904212	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs16904219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes]
rs16904223	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16904231	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16904239	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904241	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16904242	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1960661	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1974313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2027377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36004574	0.86[AFR][1000 genomes]
rs4733573	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4733771	0.86[AFR][1000 genomes]
rs4733782	0.92[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4733783	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4733788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57198371	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62524643	0.86[AFR][1000 genomes]
rs62524649	0.86[AFR][1000 genomes]
rs62525885	0.86[AFR][1000 genomes]
rs62525888	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62525889	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62525921	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62525922	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62525927	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62525928	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6415511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6415513	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6415514	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6415517	0.94[CEU][hapmap];0.95[CHB][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6470813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470814	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6991714	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6996469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6999216	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72722371	0.82[AFR][1000 genomes]
rs72724420	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72724433	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7462286	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AFR][1000 genomes]
rs754021	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9297806	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS 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	1 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	chr8:131337200-131358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
3	chr8:131339600-131354200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:131339800-131357800	Weak transcription	Esophagus	oesophagus
5	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:131342600-131357600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:131342800-131355000	Weak transcription	Pancreas	Pancrea
8	chr8:131343800-131359200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:131344800-131359200	Weak transcription	Fetal Lung	lung
10	chr8:131346400-131368800	Weak transcription	Fetal Intestine Small	intestine
11	chr8:131347600-131357800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:131347600-131368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:131347800-131357800	Weak transcription	Small Intestine	intestine
14	chr8:131348000-131354400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:131348000-131354800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:131348000-131357600	Weak transcription	Fetal Brain Male	brain
17	chr8:131348000-131357800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:131348200-131354400	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:131348600-131354200	Weak transcription	Brain Substantia Nigra	brain
20	chr8:131348600-131357000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:131348600-131358200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:131348600-131358800	Weak transcription	Gastric	stomach
23	chr8:131348800-131354400	Weak transcription	Brain Angular Gyrus	brain
24	chr8:131348800-131357600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:131349000-131356400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:131349000-131356800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr8:131349000-131359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:131349200-131354600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:131349600-131354600	Strong transcription	NHEK	skin
30	chr8:131350000-131355600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:131350000-131355800	Strong transcription	A549	lung
32	chr8:131350200-131354600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:131350400-131354600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:131350400-131355600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:131350400-131356800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:131350600-131354600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:131350600-131354800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:131350600-131356400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:131350600-131357000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:131350800-131355000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:131350800-131355200	Strong transcription	HepG2	liver
42	chr8:131350800-131356800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:131351000-131354600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:131351000-131355200	Strong transcription	HUVEC	blood vessel
45	chr8:131351000-131355200	Strong transcription	NH-A	brain
46	chr8:131351200-131354600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:131351200-131355000	Weak transcription	Lung	lung
48	chr8:131351200-131355400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:131351200-131355400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:131351200-131355600	Weak transcription	Brain Germinal Matrix	brain

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