Variant report

Variant	rs6693142
Chromosome Location	chr1:85350981-85350982
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85350699..85352618-chr1:85361197..85363939,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17117109	1.00[EUR][1000 genomes]
rs55837625	1.00[EUR][1000 genomes]
rs55965798	1.00[EUR][1000 genomes]
rs56822129	1.00[EUR][1000 genomes]
rs58206393	1.00[EUR][1000 genomes]
rs59309353	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59651987	1.00[EUR][1000 genomes]
rs59717651	1.00[EUR][1000 genomes]
rs60736067	1.00[EUR][1000 genomes]
rs60739573	1.00[EUR][1000 genomes]
rs61296345	1.00[EUR][1000 genomes]
rs61506051	1.00[EUR][1000 genomes]
rs74096200	1.00[EUR][1000 genomes]
rs74098703	1.00[EUR][1000 genomes]
rs74098707	1.00[EUR][1000 genomes]
rs7553171	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85313600-85357200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:85320600-85354800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:85322800-85355800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:85327400-85357400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:85347000-85354200	Weak transcription	Esophagus	oesophagus
6	chr1:85347800-85355800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:85348200-85352200	Enhancers	Fetal Heart	heart
8	chr1:85348400-85351000	Enhancers	Placenta	Placenta
9	chr1:85348400-85357200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:85348600-85351400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:85348600-85351400	Enhancers	NHDF-Ad	bronchial
12	chr1:85348800-85351200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:85349000-85351400	Enhancers	HMEC	breast
14	chr1:85349200-85351000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:85349400-85352400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:85349600-85353200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:85349800-85351400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:85350000-85351200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr1:85350000-85351400	Enhancers	NHLF	lung
20	chr1:85350000-85351600	Enhancers	Fetal Lung	lung
21	chr1:85350200-85351200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:85350400-85351000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:85350400-85351000	Enhancers	Right Ventricle	heart
24	chr1:85350400-85351000	Genic enhancers	NHEK	skin
25	chr1:85350600-85351000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:85350600-85351000	Enhancers	Lung	lung
27	chr1:85350600-85351400	Enhancers	Pancreas	Pancrea
28	chr1:85350600-85351600	Enhancers	Left Ventricle	heart
29	chr1:85350800-85351400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:85350800-85353200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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