Variant report

Variant	rs12156013
Chromosome Location	chr8:90747355-90747356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:90744391..90748036-chr8:90768454..90770594,4	MCF-7	breast:
2	chr8:90744912..90747575-chr8:90768585..90770314,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11776336	0.82[AMR][1000 genomes]
rs13254219	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218935	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs218938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39501	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs39502	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs39508	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39511	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39512	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs397540	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39762	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs39763	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39766	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs398701	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs40248	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs40378	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs40379	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs40380	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs40454	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40635	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs406680	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs411310	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs42343	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs42479	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs42480	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs425721	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426779	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs428484	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43133	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs434264	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs450332	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7815039	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
5	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
2	chr8:90717800-90747800	Weak transcription	Ovary	ovary
3	chr8:90738600-90749000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:90738600-90749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:90739000-90749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:90739200-90748800	Weak transcription	A549	lung
7	chr8:90741400-90751400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr8:90741600-90749000	Weak transcription	Gastric	stomach
9	chr8:90741600-90768200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:90742600-90747600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:90742600-90749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:90742600-90749200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:90742600-90767600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:90742800-90748200	Weak transcription	K562	blood
15	chr8:90742800-90749000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:90742800-90749200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:90742800-90762200	Weak transcription	Aorta	Aorta
18	chr8:90743000-90749400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:90743200-90749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:90745000-90754600	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:90745600-90747800	Weak transcription	Fetal Stomach	stomach
22	chr8:90746200-90767800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:90746600-90747400	Weak transcription	Liver	Liver
24	chr8:90747000-90747600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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