Variant report

Variant	rs17050052
Chromosome Location	chr4:120030962-120030963
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	chr4:119964664..119967824-chr4:120028894..120031199,3	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16997547	1.00[EUR][1000 genomes]
rs16997549	1.00[EUR][1000 genomes]
rs17050041	1.00[EUR][1000 genomes]
rs17050049	1.00[EUR][1000 genomes]
rs17050056	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17050067	0.90[AMR][1000 genomes]
rs28703190	1.00[EUR][1000 genomes]
rs57214946	1.00[EUR][1000 genomes]
rs57626477	1.00[EUR][1000 genomes]
rs60317087	1.00[EUR][1000 genomes]
rs6813762	1.00[EUR][1000 genomes]
rs6824074	1.00[EUR][1000 genomes]
rs6837925	1.00[EUR][1000 genomes]
rs6839198	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6843548	1.00[EUR][1000 genomes]
rs6854148	1.00[EUR][1000 genomes]
rs72908513	1.00[EUR][1000 genomes]
rs7678499	1.00[EUR][1000 genomes]
rs7678948	1.00[EUR][1000 genomes]
rs9684201	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120014800-120045000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:120024600-120036800	Weak transcription	Right Ventricle	heart
3	chr4:120027800-120034600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:120028000-120031200	Weak transcription	NHDF-Ad	bronchial
5	chr4:120028000-120032800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:120028000-120033400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:120028000-120034200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:120028200-120033400	Weak transcription	A549	lung
9	chr4:120028200-120033600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:120028200-120033600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:120028200-120034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:120028200-120034000	Weak transcription	Hela-S3	cervix
13	chr4:120028200-120034000	Weak transcription	HSMM	muscle
14	chr4:120028200-120034600	Weak transcription	HSMMtube	muscle
15	chr4:120028200-120038000	Weak transcription	Left Ventricle	heart
16	chr4:120028200-120038200	Weak transcription	Aorta	Aorta
17	chr4:120028600-120033400	Weak transcription	HUVEC	blood vessel
18	chr4:120028600-120033600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:120029000-120034000	Weak transcription	NHLF	lung
20	chr4:120029000-120034200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:120030600-120034000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:120030800-120035400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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