Variant report

Variant	rs6651220
Chromosome Location	chr8:119876833-119876834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11573939	1.00[ASN][1000 genomes]
rs11997898	1.00[ASN][1000 genomes]
rs16891598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891617	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1872425	1.00[ASN][1000 genomes]
rs2201347	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55839253	1.00[ASN][1000 genomes]
rs60431355	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6651219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73313885	0.91[AFR][1000 genomes]
rs73313901	0.94[AFR][1000 genomes]
rs73315533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73315551	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829526	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs923874	0.87[AFR][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	nsv891414	chr8:119755490-119881550	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv831444	chr8:119757355-119915966	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv470234	chr8:119856209-119906530	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv517081	chr8:119872439-119886889	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119873400-119877600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:119873400-119877600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:119873800-119877600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:119874000-119877600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:119874000-119878000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:119874000-119878200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:119874000-119878200	Weak transcription	Brain Germinal Matrix	brain
8	chr8:119874400-119877600	Weak transcription	Fetal Kidney	kidney
9	chr8:119874400-119878000	Weak transcription	Fetal Lung	lung
10	chr8:119874400-119878000	Weak transcription	Stomach Mucosa	stomach
11	chr8:119874400-119880400	Weak transcription	Aorta	Aorta
12	chr8:119875200-119877400	Weak transcription	Fetal Intestine Large	intestine
13	chr8:119875200-119878000	Weak transcription	Fetal Intestine Small	intestine
14	chr8:119875200-119880200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:119875200-119880400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:119875400-119878000	Weak transcription	GM12878-XiMat	blood
17	chr8:119875600-119877600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:119876000-119877600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:119876000-119879200	Weak transcription	Liver	Liver
20	chr8:119876200-119877600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:119876200-119878200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:119876200-119878800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:119876200-119879400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr8:119876200-119880000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:119876400-119880800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:119876800-119879400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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