Variant report

Variant	rs57412049
Chromosome Location	chr5:119868728-119868729
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10050881	1.00[AMR][1000 genomes]
rs17146750	1.00[AMR][1000 genomes]
rs17146779	1.00[AMR][1000 genomes]
rs56039793	1.00[AMR][1000 genomes]
rs57278212	1.00[AMR][1000 genomes]
rs73266179	1.00[AMR][1000 genomes]
rs73266188	1.00[AMR][1000 genomes]
rs73784574	1.00[AMR][1000 genomes]
rs73784575	1.00[AMR][1000 genomes]
rs73786234	1.00[AMR][1000 genomes]
rs73786235	1.00[AMR][1000 genomes]
rs73786517	1.00[AMR][1000 genomes]
rs73786519	1.00[AMR][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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv462427	chr5:119838923-119928674	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599601	chr5:119838923-119928674	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv948613	chr5:119861955-119999008	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv599602	chr5:119866504-120023393	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr5:119839800-119879800	Weak transcription	Psoas Muscle	Psoas
2	chr5:119854000-119868800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:119864600-119871400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:119864600-119874200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:119864600-119874400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:119865400-119869600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:119865800-119874000	Weak transcription	HSMM	muscle
8	chr5:119867000-119869000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:119867200-119879800	Weak transcription	Left Ventricle	heart
10	chr5:119867400-119868800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:119867400-119868800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:119867600-119868800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:119867800-119868800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:119868600-119869800	Enhancers	NHDF-Ad	bronchial
15	chr5:119868600-119869800	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
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