Variant report

Variant	rs60071760
Chromosome Location	chr2:173520269-173520270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16860762	0.92[EUR][1000 genomes]
rs16860768	0.92[EUR][1000 genomes]
rs16860769	0.92[EUR][1000 genomes]
rs55774730	1.00[EUR][1000 genomes]
rs55967205	0.92[EUR][1000 genomes]
rs58329616	0.92[EUR][1000 genomes]
rs58576752	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59434263	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60845738	1.00[EUR][1000 genomes]
rs6736977	1.00[EUR][1000 genomes]
rs73040802	0.92[EUR][1000 genomes]
rs73042910	1.00[EUR][1000 genomes]
rs73042913	0.92[EUR][1000 genomes]
rs73042916	0.92[EUR][1000 genomes]
rs73977612	1.00[EUR][1000 genomes]
rs73977622	0.92[EUR][1000 genomes]
rs73977647	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS 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 target site	29 gene(s)	inside rSNPs	diseases
3	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762962	chr2:173493078-173527311	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173513600-173522200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:173519400-173520600	Enhancers	NHLF	lung
3	chr2:173519400-173520800	Enhancers	HMEC	breast
4	chr2:173519400-173521000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:173519400-173521000	Enhancers	NHEK	skin
6	chr2:173519400-173521200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:173519400-173521200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:173519400-173521400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:173519600-173520600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:173519600-173520600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:173519600-173520600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:173519600-173520600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:173519600-173520600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:173519600-173520600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr2:173519600-173520600	Enhancers	HSMMtube	muscle
16	chr2:173519600-173520600	Enhancers	HUVEC	blood vessel
17	chr2:173519600-173520800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:173519600-173520800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:173519600-173520800	Enhancers	Osteobl	bone
20	chr2:173519600-173521200	Enhancers	NHDF-Ad	bronchial
21	chr2:173519800-173521000	Enhancers	A549	lung
22	chr2:173520200-173520600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:173520200-173520600	Flanking Active TSS	HSMM	muscle
24	chr2:173520200-173520600	Flanking Active TSS	NH-A	brain

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