Variant report

Variant	rs2214313
Chromosome Location	chr7:19118583-19118584
allele	C/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:23)

rs_ID	r²[population]
rs1029435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11973490	1.00[ASN][1000 genomes]
rs11975429	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11977255	1.00[AMR][1000 genomes]
rs11982017	1.00[ASN][1000 genomes]
rs11982021	1.00[ASN][1000 genomes]
rs4358696	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4509204	0.83[AMR][1000 genomes]
rs58479714	1.00[ASN][1000 genomes]
rs59296569	1.00[ASN][1000 genomes]
rs59553789	0.83[AMR][1000 genomes]
rs60603722	1.00[ASN][1000 genomes]
rs60986410	1.00[AMR][1000 genomes]
rs6966480	1.00[ASN][1000 genomes]
rs6970356	1.00[ASN][1000 genomes]
rs73310626	0.83[AMR][1000 genomes]
rs73310636	0.83[AMR][1000 genomes]
rs73314889	1.00[ASN][1000 genomes]
rs73314898	1.00[ASN][1000 genomes]
rs73314902	1.00[ASN][1000 genomes]
rs73316504	1.00[ASN][1000 genomes]
rs73316572	1.00[ASN][1000 genomes]
rs886226	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	nsv531020	chr7:18971153-19261019	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032503	chr7:19092460-19134995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1032126	chr7:19092460-19137228	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv2761116	chr7:19092472-19136307	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv532096	chr7:19094324-19361216	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv519024	chr7:19103926-19134119	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv532097	chr7:19105767-19302951	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19106800-19118600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:19113600-19119000	Weak transcription	NHDF-Ad	bronchial
3	chr7:19113800-19120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:19114000-19118800	Weak transcription	HSMM	muscle
5	chr7:19117800-19118600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:19118000-19120400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:19118200-19119200	Enhancers	HMEC	breast
8	chr7:19118200-19120400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:19118200-19120600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:19118400-19118600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:19118400-19118800	Enhancers	Osteobl	bone
12	chr7:19118400-19119600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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