Variant report

Variant	rs11775628
Chromosome Location	chr8:48382913-48382914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1038797	0.91[EUR][1000 genomes]
rs10808752	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10957074	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11774001	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11775514	0.85[EUR][1000 genomes]
rs11781727	0.91[EUR][1000 genomes]
rs11783141	0.88[EUR][1000 genomes]
rs11784823	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11785228	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12541086	0.87[EUR][1000 genomes]
rs12543823	0.89[EUR][1000 genomes]
rs12547513	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12547978	0.80[AMR][1000 genomes]
rs12675378	0.86[ASN][1000 genomes]
rs12680669	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12682269	0.93[EUR][1000 genomes]
rs13259913	0.93[EUR][1000 genomes]
rs2087656	0.91[EUR][1000 genomes]
rs2130412	0.85[ASN][1000 genomes]
rs2130879	0.87[EUR][1000 genomes]
rs2172121	0.93[EUR][1000 genomes]
rs2362554	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34099416	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35045730	0.93[EUR][1000 genomes]
rs35235599	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4498545	0.87[EUR][1000 genomes]
rs4536257	0.89[ASN][1000 genomes]
rs4873102	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4873106	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873293	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4873368	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6472229	0.87[EUR][1000 genomes]
rs6981790	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6990123	0.90[EUR][1000 genomes]
rs6994218	0.90[EUR][1000 genomes]
rs7012341	0.95[EUR][1000 genomes]
rs7826284	0.94[EUR][1000 genomes]
rs7839134	0.86[EUR][1000 genomes]
rs876915	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs902619	0.91[EUR][1000 genomes]
rs923499	0.84[ASN][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	chr8:48362800-48387400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:48362800-48387600	Weak transcription	Ovary	ovary
5	chr8:48364600-48384400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:48364600-48386000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:48372800-48383400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:48373400-48390200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:48374600-48388800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:48374800-48407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:48375000-48384600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:48375000-48392000	Weak transcription	Aorta	Aorta
13	chr8:48376600-48390000	Weak transcription	Primary B cells from cord blood	blood
14	chr8:48377200-48383600	Weak transcription	Fetal Lung	lung
15	chr8:48377200-48383600	Weak transcription	A549	lung
16	chr8:48377200-48384600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:48377400-48385400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:48377400-48386000	Weak transcription	Esophagus	oesophagus
19	chr8:48377800-48392200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:48378000-48383600	Weak transcription	Fetal Intestine Small	intestine
21	chr8:48378000-48390400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:48378000-48392200	Weak transcription	Fetal Kidney	kidney
23	chr8:48378600-48386400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:48381200-48392000	Weak transcription	HSMMtube	muscle
25	chr8:48381600-48392000	Weak transcription	Right Ventricle	heart
26	chr8:48382400-48390200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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