Variant report

Variant	rs10955887
Chromosome Location	chr8:119462455-119462456
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10094604	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10096317	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101386	0.95[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.84[ASN][1000 genomes]
rs10108907	0.95[CHB][hapmap];0.98[CHD][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs10109048	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282819	0.89[ASN][1000 genomes]
rs10283133	0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs10955877	0.91[CHB][hapmap]
rs10955878	0.91[CHB][hapmap]
rs10955879	0.95[CHB][hapmap]
rs10955883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955885	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955886	0.95[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs11773916	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs11773953	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11777111	0.83[ASN][1000 genomes]
rs11782499	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11784091	0.83[ASN][1000 genomes]
rs11784138	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11994945	0.95[CHB][hapmap]
rs12155913	0.82[ASN][1000 genomes]
rs12156430	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs12544750	0.91[ASN][1000 genomes]
rs12675551	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12677506	0.91[ASN][1000 genomes]
rs12678159	0.95[CHB][hapmap]
rs12679343	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12679866	0.85[ASN][1000 genomes]
rs12679873	0.91[CHB][hapmap]
rs12681581	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12681600	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13248112	0.83[ASN][1000 genomes]
rs13251354	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs13251719	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs13253470	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs13253764	0.82[ASN][1000 genomes]
rs13255144	0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs13260753	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs13263320	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13265657	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13269591	0.90[CHB][hapmap]
rs4075614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4128894	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242578	0.82[ASN][1000 genomes]
rs4242579	0.83[ASN][1000 genomes]
rs4242580	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4375037	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs4443692	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs4492409	0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.85[ASN][1000 genomes]
rs4493938	0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs4548208	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs4601348	0.84[ASN][1000 genomes]
rs4626637	0.84[ASN][1000 genomes]
rs4629902	0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.85[ASN][1000 genomes]
rs4631494	0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.84[ASN][1000 genomes]
rs4876416	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs4876417	0.91[ASN][1000 genomes]
rs4876833	0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.81[LWK][hapmap];0.81[ASN][1000 genomes]
rs4876835	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs4876836	0.91[ASN][1000 genomes]
rs4876837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876838	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876839	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][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]
rs4876840	0.95[CHB][hapmap];0.98[CHD][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs4876841	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs4876842	0.91[ASN][1000 genomes]
rs4876845	0.95[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs59298785	0.84[ASN][1000 genomes]
rs61636365	0.84[ASN][1000 genomes]
rs62533427	0.84[ASN][1000 genomes]
rs6469747	0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs6981538	0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs6982369	0.95[CHB][hapmap];0.98[CHD][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs6983068	0.91[ASN][1000 genomes]
rs6985503	0.89[ASN][1000 genomes]
rs7012582	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs7812733	0.85[ASN][1000 genomes]
rs7812880	0.85[ASN][1000 genomes]
rs7813395	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs7825963	0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs7826257	0.95[CHB][hapmap];0.91[ASN][1000 genomes]
rs7826375	0.91[ASN][1000 genomes]
rs7826888	0.87[ASN][1000 genomes]
rs7830347	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7830423	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7831361	0.85[ASN][1000 genomes]
rs7831501	0.85[ASN][1000 genomes]
rs7835295	0.95[CHB][hapmap];0.98[CHD][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs7838464	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs7846218	0.95[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs9297587	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]
rs9642841	0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.81[LWK][hapmap];0.85[ASN][1000 genomes]
rs9643128	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs9643129	0.85[ASN][1000 genomes]
rs9643130	0.94[CHB][hapmap];0.85[ASN][1000 genomes]
rs9656927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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
rs10955887	MED30	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119449200-119475400	Weak transcription	Gastric	stomach
2	chr8:119462200-119462600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:119462200-119462600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:119462200-119462800	Enhancers	Right Ventricle	heart
5	chr8:119462200-119463400	Enhancers	Fetal Heart	heart
6	chr8:119462400-119462600	Enhancers	Brain Cingulate Gyrus	brain
7	chr8:119462400-119462600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr8:119462400-119462800	Enhancers	Left Ventricle	heart

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