Variant report

Variant	rs1570609
Chromosome Location	chr13:38227045-38227046
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1003062	0.80[CHB][hapmap];0.92[YRI][hapmap]
rs1570608	0.92[CEU][hapmap]
rs1570612	0.80[CHB][hapmap];1.00[YRI][hapmap]
rs1924289	0.88[CHB][hapmap]
rs2025407	0.84[CHB][hapmap]
rs2957215	0.83[CHB][hapmap]
rs2957218	0.84[CHB][hapmap]
rs2985167	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2985170	0.82[CHB][hapmap]
rs4450268	0.84[CHB][hapmap]
rs4603421	0.86[CHB][hapmap]
rs4943527	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4943528	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7319663	0.86[AFR][1000 genomes]
rs7331553	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7332871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7336008	0.83[CHB][hapmap]
rs7337173	0.84[CHB][hapmap]
rs7337477	0.84[CHB][hapmap]
rs7338118	0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs7338239	0.83[CHB][hapmap]
rs7984226	0.80[CHB][hapmap];0.96[YRI][hapmap]
rs7996934	0.81[CHB][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes]
rs7997809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532099	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs9566246	0.84[CHB][hapmap]
rs9566247	0.83[CHB][hapmap]
rs9566248	0.84[CHB][hapmap]
rs9566249	0.84[CHB][hapmap]
rs9576332	0.83[CHB][hapmap]
rs9594224	0.84[CHB][hapmap]
rs9594226	0.84[CHB][hapmap]
rs9603244	0.88[CHB][hapmap]
rs9603245	0.83[CHB][hapmap]
rs9603246	0.84[CHB][hapmap]
rs9603247	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv983740	chr13:38225625-38228732	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38211400-38275600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr13:38219600-38230600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:38221600-38228200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:38221600-38228200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:38221600-38239600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr13:38221800-38231400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:38221800-38233200	Weak transcription	Ovary	ovary
8	chr13:38221800-38239400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr13:38223600-38229200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:38224400-38233200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:38225600-38227200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:38225600-38246600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr13:38225800-38227200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:38226200-38227400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:38226400-38229800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:38226400-38230000	Weak transcription	NHLF	lung
17	chr13:38226600-38227200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:38226800-38227200	Enhancers	NH-A	brain
19	chr13:38226800-38230000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:38226800-38230200	Weak transcription	HSMM	muscle
21	chr13:38227000-38228800	Weak transcription	NHDF-Ad	bronchial
22	chr13:38227000-38228800	Weak transcription	Osteobl	bone
23	chr13:38227000-38229800	Weak transcription	Hela-S3	cervix
24	chr13:38227000-38230000	Weak transcription	NHEK	skin

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