Variant report

Variant	rs7803865
Chromosome Location	chr7:100505792-100505793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100499833..100501512-chr7:100504234..100506396,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1054391	0.96[CEU][hapmap]
rs10953305	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11973000	0.84[ASN][1000 genomes]
rs12666785	0.92[CEU][hapmap]
rs12669120	1.00[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12672665	0.96[CEU][hapmap]
rs12705094	1.00[CEU][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13226043	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13232524	0.95[ASN][1000 genomes]
rs13241786	0.85[CEU][hapmap]
rs13245899	0.81[LWK][hapmap]
rs15624	0.96[CEU][hapmap]
rs2405975	0.97[ASN][1000 genomes]
rs2894713	0.84[ASN][1000 genomes]
rs3087504	1.00[CEU][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs314368	0.82[EUR][1000 genomes]
rs314371	0.85[EUR][1000 genomes]
rs314372	0.85[EUR][1000 genomes]
rs314374	1.00[CEU][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes]
rs314375	0.96[CEU][hapmap]
rs314376	1.00[CEU][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes]
rs314377	0.96[CEU][hapmap]
rs314378	0.96[CEU][hapmap]
rs34005963	0.95[ASN][1000 genomes]
rs3757869	0.82[ASN][1000 genomes]
rs3757870	0.81[ASN][1000 genomes]
rs3847063	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3847068	0.84[ASN][1000 genomes]
rs3931823	0.84[ASN][1000 genomes]
rs4727469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727470	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729615	0.96[CEU][hapmap]
rs4729616	0.92[CEU][hapmap]
rs4729617	0.96[CEU][hapmap]
rs4729618	0.96[CEU][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap]
rs4729620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465776	0.96[CEU][hapmap]
rs6942607	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6954151	1.00[CEU][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6976053	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7783457	1.00[CEU][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7801015	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7803865	MYH16	cis	parietal	SCAN
rs7803865	LOC402682	cis	multi-tissue	Pritchard
rs7803865	EPHB4	cis	multi-tissue	Pritchard
rs7803865	TRIP6	cis	multi-tissue	Pritchard
rs7803865	MCM7	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100501200-100506000	Weak transcription	Fetal Intestine Small	intestine
2	chr7:100504200-100511200	Weak transcription	Gastric	stomach
3	chr7:100504200-100516400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:100505000-100509600	Weak transcription	Pancreas	Pancrea

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