Variant report

Variant	rs12114564
Chromosome Location	chr8:49177293-49177294
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	chr8:49175832..49177590-chr8:49186476..49188807,2	K562	blood:
2	chr8:49175604..49178104-chr8:49181839..49183388,2	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]
rs35437064	1.00[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	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57688729	1.00[AMR][1000 genomes]
rs57834756	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	0.98[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	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6987608	0.96[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49173200-49178800	Weak transcription	Spleen	Spleen
2	chr8:49173200-49182000	Weak transcription	Esophagus	oesophagus
3	chr8:49173400-49186400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:49174200-49181600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:49174200-49186400	Weak transcription	Right Atrium	heart
6	chr8:49174800-49179000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:49175000-49178000	Weak transcription	Adipose Nuclei	Adipose
8	chr8:49175000-49186600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:49175200-49177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:49175200-49178800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:49175200-49179000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:49175200-49179200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:49175400-49178600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:49175800-49178200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:49176600-49177600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:49176600-49177600	Enhancers	NHDF-Ad	bronchial
17	chr8:49176800-49177600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:49176800-49181200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:49177000-49177400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:49177000-49177600	Enhancers	NHLF	lung
21	chr8:49177200-49177600	Enhancers	Fetal Stomach	stomach
22	chr8:49177200-49178200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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