Variant report

Variant	rs9297587
Chromosome Location	chr8:119449425-119449426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10094604	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10096317	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10101386	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.89[ASN][1000 genomes]
rs10108907	0.91[CHB][hapmap];0.95[CHD][hapmap];0.89[ASN][1000 genomes]
rs10109048	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10282819	0.93[ASN][1000 genomes]
rs10283133	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10955877	0.95[CHB][hapmap]
rs10955878	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs10955879	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10955883	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955884	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955885	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955886	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs10955887	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11773916	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs11773953	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11777111	0.87[ASN][1000 genomes]
rs11782499	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11784091	0.87[ASN][1000 genomes]
rs11784138	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11991196	0.83[ASN][1000 genomes]
rs11994945	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs12155913	0.86[ASN][1000 genomes]
rs12156430	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs12544750	0.87[ASN][1000 genomes]
rs12675551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12677506	0.87[ASN][1000 genomes]
rs12678159	1.00[CHB][hapmap]
rs12679343	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12679866	0.89[ASN][1000 genomes]
rs12679873	0.95[CHB][hapmap];0.80[CHD][hapmap]
rs12681581	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13248112	0.87[ASN][1000 genomes]
rs13251051	0.84[ASN][1000 genomes]
rs13251354	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs13251719	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs13253470	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs13253764	0.85[ASN][1000 genomes]
rs13255144	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs13260753	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs13263320	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13269591	0.95[CHB][hapmap]
rs4075614	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4128894	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4242578	0.87[ASN][1000 genomes]
rs4242579	0.87[ASN][1000 genomes]
rs4242580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4375037	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs4443692	0.95[CHB][hapmap];0.91[ASN][1000 genomes]
rs4492409	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.88[ASN][1000 genomes]
rs4493938	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs4548208	1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs4601348	0.89[ASN][1000 genomes]
rs4626637	0.89[ASN][1000 genomes]
rs4629902	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.88[ASN][1000 genomes]
rs4631494	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.89[ASN][1000 genomes]
rs4876416	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs4876417	0.96[ASN][1000 genomes]
rs4876833	1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.86[ASN][1000 genomes]
rs4876835	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs4876836	0.96[ASN][1000 genomes]
rs4876837	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876838	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4876839	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4876840	0.91[CHB][hapmap];0.95[CHD][hapmap];0.87[ASN][1000 genomes]
rs4876841	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4876842	0.87[ASN][1000 genomes]
rs4876845	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs59298785	0.89[ASN][1000 genomes]
rs61636365	0.89[ASN][1000 genomes]
rs62533427	0.89[ASN][1000 genomes]
rs6469747	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs6981538	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs6982369	0.91[CHB][hapmap];0.95[CHD][hapmap];0.85[ASN][1000 genomes]
rs6983068	0.87[ASN][1000 genomes]
rs6985503	0.89[ASN][1000 genomes]
rs7012582	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs7812733	0.89[ASN][1000 genomes]
rs7812880	0.89[ASN][1000 genomes]
rs7813395	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs7825963	0.91[CHB][hapmap];0.95[CHD][hapmap];0.87[ASN][1000 genomes]
rs7826257	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs7826375	0.87[ASN][1000 genomes]
rs7826888	0.82[ASN][1000 genomes]
rs7830347	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7830423	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7831361	0.89[ASN][1000 genomes]
rs7831501	0.89[ASN][1000 genomes]
rs7835295	0.91[CHB][hapmap];0.95[CHD][hapmap];0.85[ASN][1000 genomes]
rs7838464	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs7846218	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs9642841	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.89[ASN][1000 genomes]
rs9643128	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs9643129	0.89[ASN][1000 genomes]
rs9643130	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs9656927	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9297587	MED30	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119434800-119451800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:119445600-119450600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:119446000-119450000	Weak transcription	NHDF-Ad	bronchial
4	chr8:119446000-119450800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:119446200-119450400	Weak transcription	Osteobl	bone
6	chr8:119446400-119449600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:119446400-119450400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:119446400-119451000	Weak transcription	NHLF	lung
9	chr8:119446800-119452200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:119446800-119452200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:119447000-119452200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:119447400-119450800	Weak transcription	GM12878-XiMat	blood
13	chr8:119447800-119450200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:119448000-119452000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:119448000-119456200	Enhancers	HUVEC	blood vessel
16	chr8:119448400-119452200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:119448600-119454200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:119449000-119449600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:119449000-119450200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:119449000-119453400	Enhancers	NHEK	skin
21	chr8:119449200-119452800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:119449200-119453000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:119449200-119475400	Weak transcription	Gastric	stomach
24	chr8:119449400-119449800	Enhancers	Fetal Heart	heart
25	chr8:119449400-119450200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:119449400-119453200	Enhancers	HMEC	breast
27	chr8:119449400-119454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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