Variant report

Variant	rs10091313
Chromosome Location	chr8:131226092-131226093
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	chr8:131224006..131226122-chr8:131244527..131247390,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10113410	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10956511	0.80[CHB][hapmap]
rs11774690	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs11774947	0.80[CHB][hapmap]
rs11775292	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs11780495	0.81[JPT][hapmap]
rs12546206	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs12677193	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs13258946	0.80[CHB][hapmap]
rs13269464	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1538728	0.80[CHB][hapmap]
rs17212137	0.81[CHB][hapmap]
rs17282526	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1902016	0.81[JPT][hapmap]
rs1978550	0.80[CHB][hapmap]
rs2005040	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2045092	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2123870	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2305513	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs2395988	0.80[JPT][hapmap]
rs2554373	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2554374	0.89[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap]
rs2670884	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2894508	0.80[CHB][hapmap]
rs3935174	0.81[CHB][hapmap]
rs4733568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4733572	0.80[CHB][hapmap]
rs4733764	0.88[ASN][1000 genomes]
rs4733768	0.80[CHB][hapmap]
rs4733776	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs4733780	0.80[CHB][hapmap]
rs6470799	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470800	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6470802	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs6470805	0.81[ASN][1000 genomes]
rs6470815	0.81[CHB][hapmap]
rs6988261	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6991975	0.85[CHB][hapmap]
rs6992305	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6996422	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7014800	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7015970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7018225	0.80[CHB][hapmap]
rs7386417	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7460645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7464885	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs7816255	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7832651	0.80[CHB][hapmap];0.80[ASN][1000 genomes]
rs7833007	0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs7834461	0.86[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes]
rs7837226	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs966185	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
2	chr8:131199200-131229200	Weak transcription	Fetal Lung	lung
3	chr8:131200600-131246600	Weak transcription	Pancreas	Pancrea
4	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
5	chr8:131210000-131250400	Weak transcription	Gastric	stomach
6	chr8:131210200-131230200	Weak transcription	Brain Germinal Matrix	brain
7	chr8:131213600-131231600	Weak transcription	Right Atrium	heart
8	chr8:131214000-131255800	Weak transcription	Brain Angular Gyrus	brain
9	chr8:131214400-131228200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:131214600-131238200	Weak transcription	Ovary	ovary
12	chr8:131215800-131231600	Weak transcription	Spleen	Spleen
13	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:131217200-131237000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:131217400-131235400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:131217600-131232000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:131217600-131246400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:131219000-131255000	Weak transcription	Thymus	Thymus
19	chr8:131219200-131232200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:131219200-131236000	Weak transcription	Fetal Intestine Small	intestine
21	chr8:131219200-131238000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:131219200-131246800	Weak transcription	Fetal Thymus	thymus
23	chr8:131219200-131248000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:131219800-131226600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:131219800-131235400	Weak transcription	Fetal Intestine Large	intestine
26	chr8:131219800-131247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:131220000-131254800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:131220000-131255000	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:131220200-131231800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:131220200-131232600	Weak transcription	GM12878-XiMat	blood
31	chr8:131220200-131233800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:131220200-131233800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:131220200-131239400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr8:131220200-131240400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:131220200-131240400	Weak transcription	HSMMtube	muscle
36	chr8:131220200-131248000	Weak transcription	Brain Anterior Caudate	brain
37	chr8:131220600-131226200	Weak transcription	Liver	Liver
38	chr8:131220800-131233800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:131221200-131233400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:131222400-131226200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr8:131222600-131226800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:131222600-131233200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:131222800-131227000	Strong transcription	HSMM	muscle
44	chr8:131223000-131226600	Strong transcription	NHLF	lung
45	chr8:131223200-131226200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:131223400-131227000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:131224000-131227400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:131224200-131226200	Enhancers	Psoas Muscle	Psoas
49	chr8:131224200-131226400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:131224200-131226400	Genic enhancers	Left Ventricle	heart

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