Variant report

Variant	rs2894508
Chromosome Location	chr8:131245587-131245588
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: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10091313	0.80[CHB][hapmap]
rs10100892	0.82[CHD][hapmap]
rs1017281	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10956511	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.95[YRI][hapmap];0.87[ASN][1000 genomes]
rs10956514	0.85[CEU][hapmap];0.86[CHB][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1118887	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1123205	0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs11774690	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11774947	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11775292	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12546206	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12549794	0.81[EUR][1000 genomes]
rs12680942	0.81[ASN][1000 genomes]
rs13258946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs13265869	0.81[EUR][1000 genomes]
rs13269464	0.80[CHB][hapmap];0.84[CHD][hapmap]
rs1340021	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs1469288	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1538728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17212137	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17282526	0.80[CHB][hapmap]
rs17284725	0.85[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1978550	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2033059	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2114196	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2123870	0.80[CHB][hapmap]
rs2185366	0.82[CEU][hapmap]
rs2554373	0.80[CHB][hapmap];0.82[CHD][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs2670884	0.83[ASN][1000 genomes]
rs3057	0.89[CHD][hapmap]
rs34656350	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3935174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[ASN][1000 genomes]
rs4733568	0.80[CHB][hapmap]
rs4733571	0.85[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap]
rs4733572	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4733768	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4733770	0.91[ASN][1000 genomes]
rs4733775	0.81[CHB][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap]
rs4733776	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4733777	0.85[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs4733780	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4733781	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs62524640	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62525919	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62525923	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62525931	0.80[EUR][1000 genomes]
rs6470800	0.80[CHB][hapmap];0.86[CHD][hapmap]
rs6470802	0.80[CHB][hapmap];0.84[CHD][hapmap]
rs6470805	0.95[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6470815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6992305	0.80[CHB][hapmap]
rs7002892	0.84[CHD][hapmap]
rs7012705	0.86[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs7015970	0.80[CHB][hapmap]
rs7018225	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.83[EUR][1000 genomes]
rs7386417	0.80[CHB][hapmap]
rs7460225	0.87[CHD][hapmap]
rs7460645	0.80[CHB][hapmap]
rs7464885	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7817803	0.84[CHD][hapmap]
rs7832651	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7833007	0.80[CHB][hapmap]
rs7839155	0.85[CEU][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap]
rs7839523	0.87[CHD][hapmap]
rs876575	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs9643252	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs966185	0.80[CHB][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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131200600-131246600	Weak transcription	Pancreas	Pancrea
2	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
3	chr8:131210000-131250400	Weak transcription	Gastric	stomach
4	chr8:131214000-131255800	Weak transcription	Brain Angular Gyrus	brain
5	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:131217600-131246400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:131219000-131255000	Weak transcription	Thymus	Thymus
9	chr8:131219200-131246800	Weak transcription	Fetal Thymus	thymus
10	chr8:131219200-131248000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:131219800-131247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:131220000-131254800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:131220000-131255000	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:131220200-131248000	Weak transcription	Brain Anterior Caudate	brain
15	chr8:131225200-131246200	Weak transcription	Adipose Nuclei	Adipose
16	chr8:131225200-131250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:131225200-131253400	Weak transcription	Right Ventricle	heart
18	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
19	chr8:131226200-131248000	Weak transcription	Psoas Muscle	Psoas
20	chr8:131226200-131251600	Weak transcription	K562	blood
21	chr8:131226400-131246600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:131227000-131245600	Weak transcription	Placenta	Placenta
23	chr8:131227000-131246200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:131227000-131246400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:131227200-131246600	Weak transcription	HepG2	liver
26	chr8:131227200-131251200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:131229400-131251600	Weak transcription	Aorta	Aorta
28	chr8:131232200-131246600	Weak transcription	Spleen	Spleen
29	chr8:131232200-131257000	Weak transcription	Lung	lung
30	chr8:131232400-131261200	Weak transcription	Fetal Stomach	stomach
31	chr8:131233600-131248200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:131234000-131245600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:131234200-131248000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:131234200-131248600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:131234600-131255600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:131234800-131255600	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:131237400-131268000	Weak transcription	Fetal Lung	lung
38	chr8:131237600-131258000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:131238200-131249600	Weak transcription	Fetal Brain Male	brain
40	chr8:131238600-131257000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:131238800-131246600	Weak transcription	Fetal Intestine Large	intestine
42	chr8:131239600-131247800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:131239600-131250400	Weak transcription	Ovary	ovary
44	chr8:131239600-131251600	Weak transcription	Fetal Heart	heart
45	chr8:131239800-131246600	Weak transcription	Left Ventricle	heart
46	chr8:131239800-131255200	Weak transcription	Small Intestine	intestine
47	chr8:131240600-131255000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:131240800-131246400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:131240800-131246600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:131240800-131247800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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