Variant report

Variant	rs2190276
Chromosome Location	chr7:18941100-18941101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13438248	1.00[ASN][1000 genomes]
rs1990115	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990116	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28465488	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28498417	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58868975	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60339623	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461395	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954476	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv523497	chr7:18896011-18959381	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2756248	chr7:18911960-18977760	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1030062	chr7:18915874-18943409	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv887815	chr7:18931219-18958942	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv887816	chr7:18935310-18959138	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18931200-18943400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:18936600-18941600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:18936600-18941600	Weak transcription	NHEK	skin
4	chr7:18936600-18942800	Weak transcription	HMEC	breast
5	chr7:18939400-18942000	Enhancers	Osteobl	bone
6	chr7:18939400-18942400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:18939600-18943600	Enhancers	NHDF-Ad	bronchial
8	chr7:18939800-18943400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:18940000-18942000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:18940000-18943400	Enhancers	Adipose Nuclei	Adipose
11	chr7:18940200-18941600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:18940400-18942600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:18940600-18941600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:18940600-18941600	Weak transcription	Aorta	Aorta
15	chr7:18940800-18942000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:18941000-18941200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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