Variant report

Variant	rs857233
Chromosome Location	chr8:130867063-130867064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10956502	0.81[GIH][hapmap];0.84[ASN][1000 genomes]
rs11984804	0.85[ASN][1000 genomes]
rs167238	0.93[CEU][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs167239	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904166	0.81[CHD][hapmap];0.85[ASN][1000 genomes]
rs1979477	0.92[ASN][1000 genomes]
rs2046260	0.87[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2054632	0.93[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs212992	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2306528	0.81[CHD][hapmap];0.87[ASN][1000 genomes]
rs2449415	0.93[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap]
rs2449417	0.81[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2663613	0.96[CEU][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2663618	0.93[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2663619	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs298601	0.93[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap]
rs298602	0.93[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs298604	0.93[CEU][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs298605	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs298606	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs298607	0.93[CEU][hapmap];0.96[ASN][1000 genomes]
rs298609	0.93[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs298610	0.93[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298611	0.93[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298612	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs298613	0.87[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298614	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298615	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298616	0.93[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298617	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298618	0.93[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298619	0.93[CEU][hapmap];0.94[YRI][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs298620	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2989885	0.81[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34983967	0.83[ASN][1000 genomes]
rs367117	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs383209	0.93[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs384752	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs385022	0.93[CEU][hapmap];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs389604	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs401526	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs412941	0.93[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs423915	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs438877	0.95[ASN][1000 genomes]
rs4395866	0.85[ASN][1000 genomes]
rs476849	0.81[CEU][hapmap];0.85[ASN][1000 genomes]
rs59839253	0.85[ASN][1000 genomes]
rs710616	0.93[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs710617	0.86[ASN][1000 genomes]
rs837065	0.81[ASW][hapmap];0.85[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs837075	0.88[ASN][1000 genomes]
rs837076	0.83[AMR][1000 genomes]
rs837079	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs837080	0.93[CEU][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs837081	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130839200-130882000	Weak transcription	Right Ventricle	heart
2	chr8:130845600-130882000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:130846000-130882000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:130846400-130881800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:130850800-130884000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:130851000-130883800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:130851200-130878600	Weak transcription	Ovary	ovary
8	chr8:130851400-130868000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:130851600-130884600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr8:130851800-130875400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:130852000-130867200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:130852000-130868000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:130852000-130875200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr8:130852000-130878600	Strong transcription	Fetal Thymus	thymus
15	chr8:130852000-130879400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:130852000-130883800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr8:130852200-130868000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:130852200-130868200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:130852200-130868600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:130852200-130883800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr8:130852600-130867600	Strong transcription	Adipose Nuclei	Adipose
22	chr8:130852600-130868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:130852600-130872200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:130853000-130870400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:130853200-130870200	Weak transcription	Aorta	Aorta
26	chr8:130854000-130878800	Weak transcription	Colonic Mucosa	Colon
27	chr8:130855600-130874600	Strong transcription	Liver	Liver
28	chr8:130856000-130870600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:130858600-130868600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:130858800-130867400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr8:130859000-130867800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:130859800-130867200	Strong transcription	Fetal Intestine Large	intestine
33	chr8:130859800-130867400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:130859800-130868000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:130859800-130868000	Strong transcription	Placenta	Placenta
36	chr8:130860000-130867400	Strong transcription	HSMM	muscle
37	chr8:130860000-130882400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:130860200-130868000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:130860200-130869000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:130860400-130867800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:130860400-130868000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:130860400-130868600	Strong transcription	GM12878-XiMat	blood
43	chr8:130860400-130871200	Strong transcription	Dnd41	blood
44	chr8:130860600-130867800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr8:130860800-130867200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:130860800-130869600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:130860800-130871000	Strong transcription	Primary B cells from cord blood	blood
48	chr8:130861200-130868800	Weak transcription	Fetal Intestine Small	intestine
49	chr8:130861400-130868000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:130861600-130867800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood

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