Variant report

Variant	rs10279548
Chromosome Location	chr7:12709649-12709650
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10246960	0.82[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs10247152	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10279649	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280332	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540556	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13226084	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2241748	0.87[GIH][hapmap]
rs35407540	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757443	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66871471	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67302850	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6944823	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053437	0.81[ASN][1000 genomes]
rs73053442	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053448	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053455	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053467	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053491	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053493	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053495	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053498	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053502	0.93[EUR][1000 genomes];0.88[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	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	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
8	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12707200-12711400	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:12708600-12711000	Enhancers	Colon Smooth Muscle	Colon
3	chr7:12708600-12711400	Enhancers	Fetal Stomach	stomach
4	chr7:12708600-12712400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:12708800-12710000	Enhancers	Fetal Muscle Leg	muscle
6	chr7:12708800-12710200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:12708800-12710600	Enhancers	Rectal Smooth Muscle	rectum
8	chr7:12708800-12710600	Enhancers	HepG2	liver
9	chr7:12709000-12710200	Enhancers	Primary B cells from cord blood	blood
10	chr7:12709400-12711000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:12709600-12709800	Enhancers	Fetal Lung	lung
12	chr7:12709600-12710000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:12709600-12710000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr7:12709600-12710200	Enhancers	Osteobl	bone
15	chr7:12709600-12711400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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