Variant report

Variant	rs57278212
Chromosome Location	chr5:120028071-120028072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:120020785..120023634-chr5:120024255..120028253,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

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]
rs57412049	1.00[AMR][1000 genomes]
rs73256084	1.00[AFR][1000 genomes]
rs73264020	1.00[AFR][1000 genomes]
rs73264024	1.00[AFR][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:10 , 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	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
3	nsv830464	chr5:119950090-120106717	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv599603	chr5:119953529-120317035	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv949415	chr5:119957645-120459183	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv830465	chr5:119973839-120151853	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1030613	chr5:119980213-120301205	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1029773	chr5:120018166-120213999	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1016516	chr5:120023417-120132790	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1022693	chr5:120026332-120132790	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120020800-120033600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:120021000-120031800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:120021200-120031800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:120021200-120037600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:120021800-120031200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:120022400-120028200	Weak transcription	Fetal Lung	lung
7	chr5:120022400-120029200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:120022400-120030400	Weak transcription	HSMMtube	muscle
9	chr5:120022800-120030800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:120023000-120030600	Weak transcription	NHDF-Ad	bronchial
11	chr5:120024800-120029000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:120025800-120031400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:120027200-120032200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:120027200-120032200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:120027800-120035600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:120028000-120028400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:120028000-120029000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:120028000-120031200	Weak transcription	HSMM	muscle
19	chr5:120028000-120031400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:120028000-120032000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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