Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114226817..114229049-chr6:114230509..114233303,2	K562	blood:
2	chr6:114179382..114181466-chr6:114226891..114229002,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2615513	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2810162	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2810163	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs352095	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352098	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471595	0.85[EUR][1000 genomes]
rs486167	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs490393	0.83[AMR][1000 genomes]
rs499349	0.82[EUR][1000 genomes]
rs512727	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs514949	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs530459	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs546087	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs548148	0.89[EUR][1000 genomes]
rs551673	0.88[EUR][1000 genomes]
rs552557	0.88[EUR][1000 genomes]
rs560836	0.87[EUR][1000 genomes]
rs563502	0.88[EUR][1000 genomes]
rs568317	0.88[EUR][1000 genomes]
rs580820	0.87[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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv830779	chr6:114206534-114246099	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114225200-114227600	Enhancers	Spleen	Spleen
2	chr6:114225400-114230400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:114225600-114230000	Weak transcription	Osteobl	bone
4	chr6:114225600-114230200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:114225800-114228400	Weak transcription	Pancreas	Pancrea
6	chr6:114225800-114230000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:114225800-114230400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:114225800-114230400	Weak transcription	HUVEC	blood vessel
9	chr6:114225800-114231000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:114226000-114230000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:114226000-114230000	Weak transcription	Ovary	ovary
12	chr6:114226000-114230000	Weak transcription	NHDF-Ad	bronchial
13	chr6:114226200-114242000	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:114226400-114227600	Enhancers	Lung	lung
15	chr6:114226600-114227600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:114226600-114246000	Weak transcription	Fetal Stomach	stomach
17	chr6:114226800-114240400	Weak transcription	Left Ventricle	heart

Quick Search: