Variant report

Variant	rs17055648
Chromosome Location	chr13:38020980-38020981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10507454	1.00[ASN][1000 genomes]
rs17055627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055650	1.00[ASN][1000 genomes]
rs6563542	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	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	nsv899994	chr13:37816086-38087145	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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
5	nsv832582	chr13:37943056-38124252	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38020200-38021400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:38020200-38021400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:38020200-38021400	Enhancers	Osteobl	bone
4	chr13:38020200-38021600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:38020200-38021600	Enhancers	NHEK	skin
6	chr13:38020200-38021600	Enhancers	NHLF	lung
7	chr13:38020200-38022400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:38020200-38022600	Enhancers	HSMM	muscle
9	chr13:38020200-38022600	Enhancers	NHDF-Ad	bronchial
10	chr13:38020200-38022800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:38020200-38022800	Enhancers	HSMMtube	muscle
12	chr13:38020400-38021400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:38020400-38021400	Enhancers	Fetal Heart	heart
14	chr13:38020400-38021400	Enhancers	HMEC	breast
15	chr13:38020400-38021400	Enhancers	NH-A	brain
16	chr13:38020400-38021800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:38020400-38022800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:38020400-38024200	Enhancers	Fetal Stomach	stomach
19	chr13:38020600-38021000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr13:38020600-38021400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:38020800-38021400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:38020800-38021400	Enhancers	Right Atrium	heart

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