Variant report

Variant	rs3847063
Chromosome Location	chr7:100498475-100498476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100494057..100496619-chr7:100498348..100500354,3	MCF-7	breast:
2	chr7:100493681..100497136-chr7:100497914..100501900,6	K562	blood:
3	chr7:100495042..100497121-chr7:100497583..100500198,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000087085	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1054391	0.96[CEU][hapmap]
rs10953305	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11973000	0.97[ASN][1000 genomes]
rs12666785	0.92[CEU][hapmap]
rs12669120	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12672665	0.96[CEU][hapmap]
rs12705094	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13226043	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13232524	0.81[ASN][1000 genomes]
rs13241786	0.85[CEU][hapmap]
rs15624	0.96[CEU][hapmap]
rs2405975	0.84[ASN][1000 genomes]
rs2894713	0.97[ASN][1000 genomes]
rs3087504	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs314368	0.84[EUR][1000 genomes]
rs314371	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs314372	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs314374	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs314375	0.96[CEU][hapmap]
rs314376	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs314377	0.96[CEU][hapmap]
rs314378	0.96[CEU][hapmap]
rs34005963	0.84[ASN][1000 genomes]
rs3757869	0.94[ASN][1000 genomes]
rs3757870	0.94[ASN][1000 genomes]
rs3843541	0.83[ASN][1000 genomes]
rs3847064	0.83[ASN][1000 genomes]
rs3847068	0.97[ASN][1000 genomes]
rs3931823	0.97[ASN][1000 genomes]
rs4727469	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4727470	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4729615	0.96[CEU][hapmap]
rs4729616	0.92[CEU][hapmap]
rs4729617	0.96[CEU][hapmap]
rs4729618	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs4729619	0.90[ASN][1000 genomes]
rs4729620	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6465776	0.96[CEU][hapmap]
rs6942607	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6954151	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6976053	0.93[ASW][hapmap];0.96[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7783457	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7801015	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7803865	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]

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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs3847063	MYH16	cis	parietal	SCAN
rs3847063	EPHB4	cis	multi-tissue	Pritchard
rs3847063	LOC402682	cis	multi-tissue	Pritchard
rs3847063	TRIP6	cis	multi-tissue	Pritchard
rs3847063	SHFM1	cis	cerebellum	SCAN
rs3847063	MCM7	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100494600-100498600	Weak transcription	Gastric	stomach
2	chr7:100495000-100498600	Weak transcription	Right Atrium	heart
3	chr7:100495400-100499800	Weak transcription	Colonic Mucosa	Colon
4	chr7:100496200-100498600	Weak transcription	Stomach Mucosa	stomach
5	chr7:100496200-100498600	Weak transcription	K562	blood
6	chr7:100498400-100498800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:100498400-100499000	Enhancers	Duodenum Mucosa	Duodenum
8	chr7:100498400-100499000	Enhancers	Pancreas	Pancrea
9	chr7:100498400-100500000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:100498400-100500200	Enhancers	Liver	Liver
11	chr7:100498400-100501200	Enhancers	Fetal Intestine Large	intestine
12	chr7:100498400-100501200	Enhancers	Fetal Intestine Small	intestine
13	chr7:100498400-100501200	Enhancers	Rectal Mucosa Donor 31	rectum

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