Variant report

Variant	rs17011820
Chromosome Location	chr4:127810037-127810038
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127809656..127812090-chr4:127818382..127821149,2	K562	blood:
2	chr4:127809921..127811534-chr4:127814777..127816891,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11098903	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11098904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938581	0.86[EUR][1000 genomes]
rs12640034	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12642699	0.93[AMR][1000 genomes]
rs12642936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12645504	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12646183	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12649338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1397436	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16997936	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16997962	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011663	0.93[AMR][1000 genomes]
rs17011712	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17011824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17011836	0.92[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011980	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1910441	0.87[CHB][hapmap];0.88[CHD][hapmap]
rs2047858	0.93[AMR][1000 genomes]
rs2203012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2391096	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28627370	0.86[EUR][1000 genomes]
rs28721329	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57220017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58011980	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58035425	0.90[AMR][1000 genomes]
rs58743449	0.82[AMR][1000 genomes]
rs60210181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60662614	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9884714	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv428773	chr4:127760014-127913973	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv830055	chr4:127794875-127993821	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127794000-127812200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:127803200-127815600	Weak transcription	K562	blood
3	chr4:127808600-127812000	Weak transcription	NHLF	lung
4	chr4:127809400-127810800	Enhancers	NHEK	skin
5	chr4:127809400-127811000	Enhancers	NHDF-Ad	bronchial
6	chr4:127809800-127810800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:127809800-127810800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:127809800-127812400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:127810000-127810800	Enhancers	NH-A	brain
10	chr4:127810000-127812000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:127810000-127812000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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