Variant report

Variant	rs12699421
Chromosome Location	chr7:12875858-12875859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10233379	0.90[EUR][1000 genomes]
rs10235332	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237365	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248233	0.83[ASN][1000 genomes]
rs10262918	0.83[ASN][1000 genomes]
rs10274349	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10274842	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10277517	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10280104	0.83[ASN][1000 genomes]
rs10950417	0.94[EUR][1000 genomes]
rs10950418	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10950419	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12155420	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12531011	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12531228	0.95[EUR][1000 genomes]
rs12531814	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12533247	0.86[EUR][1000 genomes]
rs12533314	0.86[EUR][1000 genomes]
rs12533952	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12534712	0.95[EUR][1000 genomes]
rs12535230	0.85[EUR][1000 genomes]
rs12535869	0.95[EUR][1000 genomes]
rs12536932	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12538097	0.93[EUR][1000 genomes]
rs12538194	0.93[EUR][1000 genomes]
rs12538763	0.93[EUR][1000 genomes]
rs12538792	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs12539313	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs12539387	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12699417	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12699419	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs12699422	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699426	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs13222073	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13222475	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13224587	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13225356	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13225358	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13228110	0.95[EUR][1000 genomes]
rs13228635	0.95[EUR][1000 genomes]
rs13232299	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs13233019	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13233170	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13233911	0.95[EUR][1000 genomes]
rs13236020	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs13238922	0.95[EUR][1000 genomes]
rs13244444	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13437931	0.83[ASN][1000 genomes]
rs28504348	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28580150	0.83[ASN][1000 genomes]
rs2884085	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs28865373	0.83[ASN][1000 genomes]
rs34057597	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34107937	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34269223	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34338066	0.92[EUR][1000 genomes]
rs34488685	0.86[EUR][1000 genomes]
rs34591294	0.91[EUR][1000 genomes]
rs34755449	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34809518	0.93[EUR][1000 genomes]
rs34904008	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34928291	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34971219	0.92[EUR][1000 genomes]
rs35003906	0.92[EUR][1000 genomes]
rs35181098	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35193720	0.94[EUR][1000 genomes]
rs35290407	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35464195	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35616205	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35867430	0.97[EUR][1000 genomes]
rs35917995	0.92[EUR][1000 genomes]
rs35988890	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36003929	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36091229	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55864529	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56753879	0.83[ASN][1000 genomes]
rs57594449	0.83[ASN][1000 genomes]
rs62445836	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6942476	0.83[ASN][1000 genomes]
rs6954306	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6954419	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71536902	0.80[EUR][1000 genomes]
rs71538805	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73296201	0.83[ASN][1000 genomes]
rs7806671	1.00[CHB][hapmap]
rs9647958	0.90[EUR][1000 genomes]
rs9648162	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12868200-12877200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:12872600-12879200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:12873600-12879400	Weak transcription	Pancreas	Pancrea

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