Variant report

Variant	rs73264784
Chromosome Location	chr8:68424378-68424379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1393897	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1566769	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16933341	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1812678	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1847292	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824270	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4386963	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57070848	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57097218	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57185404	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	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58637111	0.83[AFR][1000 genomes];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	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61220075	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61246408	0.84[AFR][1000 genomes]
rs61679446	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472314	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018199	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262665	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262669	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262675	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262680	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73262681	0.87[AFR][1000 genomes];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	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262696	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73264707	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264774	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264780	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264792	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73264794	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815213	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs966593	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966594	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68417200-68424600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:68417400-68424800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:68418800-68424600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:68418800-68426000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:68422000-68425600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:68422400-68425400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:68422600-68425600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:68422800-68424800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:68422800-68425600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:68423000-68424400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:68423000-68424400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:68423000-68424400	Weak transcription	Adipose Nuclei	Adipose
13	chr8:68423000-68424800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:68423000-68424800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:68423200-68425600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr8:68423400-68424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:68424000-68424800	Enhancers	Fetal Brain Male	brain
18	chr8:68424000-68425600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:68424200-68424400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr8:68424200-68424600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:68424200-68424800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr8:68424200-68425000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:68424200-68425000	Enhancers	Fetal Brain Female	brain

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