Variant report

Variant	rs567193
Chromosome Location	chr3:105296313-105296314
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11559013	0.95[CHD][hapmap]
rs13317567	0.95[CHD][hapmap]
rs474355	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs495691	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs526297	0.83[TSI][hapmap]
rs587467	0.89[ASW][hapmap];0.80[JPT][hapmap];0.91[LWK][hapmap];0.92[MKK][hapmap];0.86[AFR][1000 genomes]
rs666474	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv534224	chr3:105141696-105404293	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv829651	chr3:105203424-105402136	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv460811	chr3:105212993-105316769	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv591240	chr3:105212993-105316769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1012669	chr3:105290140-105321201	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	miRNA target site	n/a	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105221400-105300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:105260800-105297000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:105260800-105299800	Weak transcription	Pancreas	Pancrea
4	chr3:105268400-105297800	Weak transcription	NHLF	lung
5	chr3:105271600-105297000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:105271600-105303000	Weak transcription	Aorta	Aorta
7	chr3:105272200-105312800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:105272400-105302800	Weak transcription	NHEK	skin
9	chr3:105273200-105303000	Weak transcription	HMEC	breast
10	chr3:105273400-105297600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr3:105273400-105297600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:105273400-105299800	Weak transcription	NHDF-Ad	bronchial
13	chr3:105273800-105297400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:105274000-105303000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:105277200-105299200	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:105278600-105297000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:105278600-105297400	Weak transcription	GM12878-XiMat	blood
18	chr3:105286400-105297600	Weak transcription	HUVEC	blood vessel
19	chr3:105288600-105297000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:105291200-105297200	Weak transcription	Primary B cells from cord blood	blood
21	chr3:105291400-105297000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:105291400-105297800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:105291600-105297600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:105292000-105297200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr3:105292000-105303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:105292200-105297800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:105292400-105296600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:105293400-105296600	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr3:105295200-105296800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:105295400-105296800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:105295600-105296400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:105295800-105296400	Strong transcription	Brain Substantia Nigra	brain
33	chr3:105295800-105296400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr3:105296000-105297800	Weak transcription	Osteobl	bone
35	chr3:105296000-105298000	Weak transcription	HSMM	muscle
36	chr3:105296200-105297800	Weak transcription	Liver	Liver
37	chr3:105296200-105297800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr3:105296200-105299200	Weak transcription	NH-A	brain

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