Variant report

Variant	rs4621519
Chromosome Location	chr5:52674671-52674672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13161622	0.82[ASN][1000 genomes]
rs4131067	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4865770	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6861945	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6862152	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7708901	0.82[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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv508356	chr5:52646168-52703120	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv2763453	chr5:52668739-52682374	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv517020	chr5:52670974-52677451	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv520889	chr5:52670974-52684170	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52670000-52674800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:52673600-52675200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:52673800-52675000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:52674000-52675200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:52674000-52675400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:52674200-52675000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:52674200-52675000	Enhancers	NH-A	brain
8	chr5:52674200-52675200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:52674200-52675200	Enhancers	Hela-S3	cervix
10	chr5:52674200-52675200	Enhancers	HMEC	breast
11	chr5:52674200-52675200	Enhancers	NHEK	skin
12	chr5:52674200-52675400	Enhancers	NHLF	lung
13	chr5:52674400-52674800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:52674400-52675000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:52674400-52675000	Enhancers	A549	lung
16	chr5:52674400-52675000	Enhancers	HUVEC	blood vessel
17	chr5:52674600-52675000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:52674600-52675000	Flanking Active TSS	NHDF-Ad	bronchial
19	chr5:52674600-52675000	Flanking Active TSS	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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