Variant report

Variant	rs12547497
Chromosome Location	chr8:48379380-48379381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10099236	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10108778	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10109113	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10441557	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10957370	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11776864	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13279327	0.88[ASN][1000 genomes]
rs2362555	0.93[EUR][1000 genomes]
rs35332377	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4436571	0.90[ASN][1000 genomes]
rs4486659	0.87[ASN][1000 genomes]
rs4873088	0.81[AMR][1000 genomes]
rs4873101	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4873269	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4873386	0.82[ASN][1000 genomes]
rs4873446	0.88[ASN][1000 genomes]
rs4873463	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs58299877	0.85[EUR][1000 genomes]
rs6473996	0.93[EUR][1000 genomes]
rs6981485	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6987882	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7825148	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828350	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7832841	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7846620	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr8:48351400-48387000	Weak transcription	Left Ventricle	heart
2	chr8:48353000-48390600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:48353400-48382000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:48362800-48387400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:48362800-48387600	Weak transcription	Ovary	ovary
6	chr8:48364600-48384400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:48364600-48386000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:48371800-48380400	Weak transcription	Thymus	Thymus
9	chr8:48372800-48383400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:48373400-48390200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:48374600-48388800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:48374800-48407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:48375000-48384600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:48375000-48392000	Weak transcription	Aorta	Aorta
15	chr8:48376600-48390000	Weak transcription	Primary B cells from cord blood	blood
16	chr8:48377200-48383600	Weak transcription	Fetal Lung	lung
17	chr8:48377200-48383600	Weak transcription	A549	lung
18	chr8:48377200-48384600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:48377400-48385400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:48377400-48386000	Weak transcription	Esophagus	oesophagus
21	chr8:48377800-48392200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:48378000-48380600	Weak transcription	HSMM	muscle
23	chr8:48378000-48383600	Weak transcription	Fetal Intestine Small	intestine
24	chr8:48378000-48390400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:48378000-48392200	Weak transcription	Fetal Kidney	kidney
26	chr8:48378600-48386400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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