Variant report

Variant	rs57834756
Chromosome Location	chr8:49187678-49187679
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	chr8:49175832..49177590-chr8:49186476..49188807,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11991972	1.00[AMR][1000 genomes]
rs12114205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12114564	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35437064	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4304348	1.00[AMR][1000 genomes]
rs4546687	1.00[AMR][1000 genomes]
rs4546688	1.00[AMR][1000 genomes]
rs4609219	1.00[AMR][1000 genomes]
rs4637865	1.00[AMR][1000 genomes]
rs55708513	1.00[AMR][1000 genomes]
rs55770276	1.00[AMR][1000 genomes]
rs55956950	1.00[AMR][1000 genomes]
rs56102090	1.00[AMR][1000 genomes]
rs56229457	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57688729	1.00[AMR][1000 genomes]
rs58045776	1.00[AMR][1000 genomes]
rs58175922	1.00[AMR][1000 genomes]
rs58431112	1.00[AMR][1000 genomes]
rs58555026	1.00[AMR][1000 genomes]
rs58814770	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59517761	1.00[AMR][1000 genomes]
rs59634313	1.00[AMR][1000 genomes]
rs60463191	1.00[AMR][1000 genomes]
rs61602855	1.00[AMR][1000 genomes]
rs6474094	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6987608	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73678239	1.00[AMR][1000 genomes]
rs73678240	1.00[AMR][1000 genomes]
rs73678243	1.00[AMR][1000 genomes]
rs73678244	1.00[AMR][1000 genomes]
rs73678245	1.00[AMR][1000 genomes]
rs73678246	1.00[AMR][1000 genomes]
rs73678259	1.00[AMR][1000 genomes]
rs7465660	1.00[AMR][1000 genomes]
rs7843537	1.00[AMR][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	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1808901	chr8:49173411-49201882	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49183000-49201400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:49186000-49188000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:49186200-49187800	Enhancers	Fetal Stomach	stomach
4	chr8:49186200-49188200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:49186400-49188000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:49186600-49192000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:49186800-49187800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:49186800-49189000	Weak transcription	Esophagus	oesophagus
9	chr8:49186800-49192000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:49186800-49192000	Weak transcription	HMEC	breast
11	chr8:49186800-49192000	Weak transcription	NHEK	skin
12	chr8:49186800-49192200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:49186800-49199400	Weak transcription	Right Atrium	heart
14	chr8:49187000-49188800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:49187000-49192000	Weak transcription	HUVEC	blood vessel
16	chr8:49187000-49192200	Weak transcription	Osteobl	bone
17	chr8:49187000-49192400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:49187200-49188800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:49187200-49191000	Weak transcription	NHDF-Ad	bronchial
20	chr8:49187200-49191400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:49187200-49192000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:49187200-49192200	Weak transcription	NH-A	brain
23	chr8:49187200-49192400	Weak transcription	NHLF	lung
24	chr8:49187200-49198000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:49187400-49187800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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