Variant report

Variant	rs73264780
Chromosome Location	chr8:68421583-68421584
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	chr8:68418348..68420236-chr8:68421505..68423535,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10957389	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984622	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994817	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12115004	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1393897	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1566769	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16933341	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1812678	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1847292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824270	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4386963	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57070848	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57097218	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57185404	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57312956	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57714056	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57836294	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58637111	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59607772	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60606572	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61142861	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61220075	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61679446	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472314	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651314	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018199	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262665	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262669	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262675	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262680	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73262681	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262685	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262686	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262688	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262691	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262695	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262696	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73264707	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264769	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264774	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264784	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264794	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815213	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs966593	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966594	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr8:68402600-68423000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:68417200-68424600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:68417400-68424800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:68418800-68424600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:68418800-68426000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:68419000-68422800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:68419000-68423200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:68419200-68422600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:68419200-68422800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:68419200-68423000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:68419200-68423200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:68419200-68424000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:68419200-68424200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:68419200-68424200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:68420000-68421600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:68420000-68422600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:68420800-68421800	Enhancers	HUES48 Cell Line	embryonic stem cell

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