Variant report

Variant	rs12543076
Chromosome Location	chr8:67456582-67456583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11985608	0.99[ASN][1000 genomes]
rs11995298	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12547731	1.00[TSI][hapmap]
rs12547831	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16932954	0.93[ASW][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34346108	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34949628	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62512590	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62512592	0.95[ASN][1000 genomes]
rs62512594	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62512597	1.00[ASN][1000 genomes]
rs62512598	1.00[ASN][1000 genomes]
rs6982757	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997318	0.99[ASN][1000 genomes]
rs6998821	1.00[ASN][1000 genomes]
rs7008801	0.80[ASW][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs7011235	0.99[ASN][1000 genomes]
rs73259750	0.99[ASN][1000 genomes]
rs7823762	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832611	0.88[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7839827	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67449600-67458800	Weak transcription	Osteobl	bone
2	chr8:67452800-67461200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:67453200-67460400	Weak transcription	HSMMtube	muscle
4	chr8:67453200-67462600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:67453800-67460400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:67454000-67461200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:67454000-67461600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:67454200-67460400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:67454200-67461000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:67454600-67460800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:67454800-67456600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:67454800-67458800	Weak transcription	HUVEC	blood vessel
13	chr8:67454800-67459000	Weak transcription	HSMM	muscle
14	chr8:67454800-67459000	Weak transcription	NHEK	skin
15	chr8:67454800-67460800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:67455000-67456600	Weak transcription	Lung	lung
17	chr8:67455000-67458400	Weak transcription	Gastric	stomach
18	chr8:67455000-67459000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:67455000-67460200	Weak transcription	NH-A	brain
20	chr8:67455000-67464400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:67455000-67464800	Weak transcription	Psoas Muscle	Psoas
22	chr8:67455000-67468000	Weak transcription	Left Ventricle	heart
23	chr8:67455200-67456800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:67455200-67456800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:67455200-67458400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:67455200-67459000	Weak transcription	HMEC	breast
27	chr8:67455200-67460000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:67455200-67460000	Weak transcription	NHLF	lung
29	chr8:67455200-67460800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:67455200-67461200	Weak transcription	NHDF-Ad	bronchial
31	chr8:67456000-67458000	Enhancers	Primary B cells from cord blood	blood
32	chr8:67456000-67459400	Enhancers	Primary B cells from peripheral blood	blood
33	chr8:67456000-67461800	Enhancers	GM12878-XiMat	blood
34	chr8:67456200-67457000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:67456400-67456800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:67456400-67456800	Enhancers	A549	lung
37	chr8:67456400-67457400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:67456400-67457400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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