Variant report

Variant	rs2306528
Chromosome Location	chr8:130868061-130868062
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10956502	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11984804	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16904166	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1979477	0.80[ASN][1000 genomes]
rs2046260	0.87[CHB][hapmap];0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs2054632	0.83[CHB][hapmap];0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs2086641	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2449415	0.87[CHB][hapmap]
rs2449417	0.87[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap]
rs2663613	0.84[ASN][1000 genomes]
rs2663618	0.87[CHB][hapmap];0.84[CHD][hapmap];0.86[ASN][1000 genomes]
rs298601	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs298602	0.83[CHB][hapmap]
rs298607	0.83[ASN][1000 genomes]
rs298609	0.87[CHB][hapmap];0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs298610	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs298611	0.87[CHB][hapmap];0.82[CHD][hapmap];0.84[ASN][1000 genomes]
rs298612	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs298613	0.83[CHB][hapmap];0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs298614	0.82[ASN][1000 genomes]
rs298615	0.83[ASN][1000 genomes]
rs298616	0.87[CHB][hapmap];0.82[CHD][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs298617	0.85[ASN][1000 genomes]
rs298618	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs2989885	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs34983967	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs367117	0.82[ASN][1000 genomes]
rs383209	0.87[CHB][hapmap];0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs384752	0.87[CHB][hapmap];0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs385022	0.83[ASN][1000 genomes]
rs389604	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs412941	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs423915	0.81[ASN][1000 genomes]
rs438877	0.84[ASN][1000 genomes]
rs4395866	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59839253	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs710616	0.87[CHB][hapmap];0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs837065	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs837081	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs857233	0.81[CHD][hapmap];0.87[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	chr8:130851600-130884600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:130851800-130875400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:130852000-130875200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr8:130852000-130878600	Strong transcription	Fetal Thymus	thymus
12	chr8:130852000-130879400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:130852000-130883800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr8:130852200-130868200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:130852200-130868600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:130852200-130883800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr8:130852600-130868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:130852600-130872200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:130853000-130870400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:130853200-130870200	Weak transcription	Aorta	Aorta
21	chr8:130854000-130878800	Weak transcription	Colonic Mucosa	Colon
22	chr8:130855600-130874600	Strong transcription	Liver	Liver
23	chr8:130856000-130870600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:130858600-130868600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:130860000-130882400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:130860200-130869000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:130860400-130868600	Strong transcription	GM12878-XiMat	blood
28	chr8:130860400-130871200	Strong transcription	Dnd41	blood
29	chr8:130860800-130869600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:130860800-130871000	Strong transcription	Primary B cells from cord blood	blood
31	chr8:130861200-130868800	Weak transcription	Fetal Intestine Small	intestine
32	chr8:130861800-130868600	Strong transcription	Primary hematopoietic stem cells	blood
33	chr8:130862000-130882400	Weak transcription	NHLF	lung
34	chr8:130862600-130869600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:130862600-130884400	Weak transcription	Fetal Brain Male	brain
36	chr8:130863600-130886800	Weak transcription	Fetal Lung	lung
37	chr8:130863800-130868400	Strong transcription	A549	lung
38	chr8:130863800-130876800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:130864000-130882400	Weak transcription	Esophagus	oesophagus
40	chr8:130864400-130869000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr8:130864400-130869600	Weak transcription	HUVEC	blood vessel
42	chr8:130864400-130870800	Weak transcription	Spleen	Spleen
43	chr8:130864400-130871000	Weak transcription	Lung	lung
44	chr8:130864400-130871200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:130864400-130871600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:130864400-130871600	Weak transcription	Fetal Stomach	stomach
47	chr8:130864400-130872200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:130864400-130876600	Weak transcription	Pancreas	Pancrea
49	chr8:130864400-130876800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:130864400-130876800	Weak transcription	Gastric	stomach

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