Variant report

Variant	rs16904219
Chromosome Location	chr8:131225625-131225626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131214869..131216491-chr8:131224118..131225672,2	K562	blood:
2	chr8:131224006..131226122-chr8:131244527..131247390,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10091130	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10109236	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs10505548	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10505549	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10956513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10956515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956517	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11779014	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs11781752	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs11786705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes]
rs12541083	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs12542411	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12545910	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12546088	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12546603	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12547397	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12547540	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12675390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12675543	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12675865	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs12676836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12679283	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12681954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12681955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1417007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1469286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1549455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16893271	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16904190	0.83[CHB][hapmap]
rs16904197	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904199	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs16904204	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16904208	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904212	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16904223	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904239	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16904241	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16904249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes]
rs1960661	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1974313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2027377	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2045091	0.84[CEU][hapmap]
rs2305511	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2395989	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs36004574	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3812476	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4236749	0.82[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs4461944	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4733569	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4733573	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs4733771	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4733772	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733782	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4733783	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs4733788	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs55759245	0.83[ASN][1000 genomes]
rs55993168	0.83[ASN][1000 genomes]
rs57198371	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62524632	0.83[ASN][1000 genomes]
rs62524635	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62524643	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62524644	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62524647	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62524649	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62525876	0.81[ASN][1000 genomes]
rs62525884	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62525885	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62525888	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62525889	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62525921	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62525922	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62525927	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62525928	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6415511	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6415513	0.81[EUR][1000 genomes]
rs6415514	0.81[EUR][1000 genomes]
rs6415517	0.94[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap]
rs6470813	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6470814	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6991714	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6996106	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs6996469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6999216	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7006336	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs716077	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72722330	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72722366	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72722371	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72724420	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72724433	0.80[EUR][1000 genomes]
rs7462286	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs754021	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9297806	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]

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:104 , 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	chr8:131213800-131226000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:131214000-131255800	Weak transcription	Brain Angular Gyrus	brain
10	chr8:131214400-131228200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:131214600-131225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:131214600-131238200	Weak transcription	Ovary	ovary
14	chr8:131215800-131231600	Weak transcription	Spleen	Spleen
15	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:131217200-131237000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:131217400-131235400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:131217600-131232000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:131217600-131246400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:131219000-131255000	Weak transcription	Thymus	Thymus
21	chr8:131219200-131232200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:131219200-131236000	Weak transcription	Fetal Intestine Small	intestine
23	chr8:131219200-131238000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:131219200-131246800	Weak transcription	Fetal Thymus	thymus
25	chr8:131219200-131248000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:131219800-131226600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:131219800-131235400	Weak transcription	Fetal Intestine Large	intestine
28	chr8:131219800-131247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:131220000-131226000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:131220000-131226000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:131220000-131254800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:131220000-131255000	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:131220200-131231800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:131220200-131232600	Weak transcription	GM12878-XiMat	blood
35	chr8:131220200-131233800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr8:131220200-131233800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:131220200-131239400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:131220200-131240400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:131220200-131240400	Weak transcription	HSMMtube	muscle
40	chr8:131220200-131248000	Weak transcription	Brain Anterior Caudate	brain
41	chr8:131220600-131225800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:131220600-131226200	Weak transcription	Liver	Liver
43	chr8:131220800-131233800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:131221200-131233400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:131222400-131226200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:131222600-131226800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:131222600-131233200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:131222800-131227000	Strong transcription	HSMM	muscle
49	chr8:131223000-131226600	Strong transcription	NHLF	lung
50	chr8:131223200-131226200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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