Variant report

Variant	rs13274597
Chromosome Location	chr8:119361754-119361755
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	chr8:119132540..119133242-chr8:119361404..119362055,2	MCF-7	breast:
2	chr8:119356234..119358532-chr8:119360102..119363000,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12541679	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12542056	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12543387	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12546274	0.92[ASN][1000 genomes]
rs13261748	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3849854	0.82[CEU][hapmap]
rs3849855	0.83[CEU][hapmap]
rs4876813	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876816	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6469741	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983935	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984483	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9642840	0.82[CEU][hapmap]
rs9643124	0.95[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	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119323000-119394000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:119323800-119362400	Weak transcription	GM12878-XiMat	blood
3	chr8:119344000-119366000	Weak transcription	Gastric	stomach
4	chr8:119346000-119365800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:119354000-119363200	Weak transcription	Fetal Intestine Small	intestine
6	chr8:119354800-119362000	Enhancers	HUVEC	blood vessel
7	chr8:119355600-119362200	Enhancers	HMEC	breast
8	chr8:119355600-119364200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:119355800-119362800	Enhancers	NHEK	skin
10	chr8:119355800-119363000	Enhancers	Liver	Liver
11	chr8:119357200-119361800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:119357800-119362000	Weak transcription	Right Ventricle	heart
13	chr8:119358000-119364800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:119358200-119362000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:119359000-119363600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:119359000-119363800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:119359200-119362000	Weak transcription	Spleen	Spleen
18	chr8:119359200-119363600	Weak transcription	Osteobl	bone
19	chr8:119359400-119363600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:119359400-119363600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:119359400-119370000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:119359600-119362200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:119359600-119363400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:119359600-119366800	Weak transcription	Aorta	Aorta
25	chr8:119359600-119372800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:119359600-119398600	Weak transcription	Lung	lung
27	chr8:119360800-119362600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:119361000-119362200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr8:119361000-119362800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:119361000-119363000	Enhancers	Stomach Mucosa	stomach
31	chr8:119361200-119362000	Weak transcription	Left Ventricle	heart
32	chr8:119361400-119361800	Weak transcription	Pancreas	Pancrea

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