Variant report

Variant	rs60491063
Chromosome Location	chr2:191664171-191664172
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10171621	1.00[EUR][1000 genomes]
rs10191962	1.00[EUR][1000 genomes]
rs10201787	1.00[EUR][1000 genomes]
rs16832940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16833146	1.00[EUR][1000 genomes]
rs41363648	1.00[EUR][1000 genomes]
rs41381545	1.00[EUR][1000 genomes]
rs41383548	1.00[EUR][1000 genomes]
rs41390345	1.00[EUR][1000 genomes]
rs41429347	1.00[EUR][1000 genomes]
rs41446247	1.00[EUR][1000 genomes]
rs41457850	1.00[EUR][1000 genomes]
rs41463952	1.00[EUR][1000 genomes]
rs41508653	1.00[EUR][1000 genomes]
rs45581732	1.00[EUR][1000 genomes]
rs45582434	1.00[EUR][1000 genomes]
rs45625838	1.00[EUR][1000 genomes]
rs56722217	1.00[EUR][1000 genomes]
rs57478729	1.00[EUR][1000 genomes]
rs58801716	1.00[EUR][1000 genomes]
rs60582710	1.00[EUR][1000 genomes]
rs61276563	1.00[EUR][1000 genomes]
rs6434403	1.00[EUR][1000 genomes]
rs6712504	1.00[EUR][1000 genomes]
rs6721631	1.00[EUR][1000 genomes]
rs73043470	1.00[EUR][1000 genomes]
rs73057796	1.00[EUR][1000 genomes]
rs73057800	1.00[EUR][1000 genomes]
rs7579190	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875622	chr2:191618824-191745389	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv584064	chr2:191644537-191789907	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv584065	chr2:191644537-191875901	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191657000-191666000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:191657200-191664200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:191657200-191665000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:191657200-191665200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:191657200-191667600	Weak transcription	HSMM	muscle
6	chr2:191657400-191665000	Weak transcription	Brain Germinal Matrix	brain
7	chr2:191658000-191665000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:191658400-191664800	Weak transcription	NH-A	brain
9	chr2:191658400-191665200	Weak transcription	HUVEC	blood vessel
10	chr2:191658400-191666400	Weak transcription	HMEC	breast
11	chr2:191658400-191668600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:191658400-191673800	Weak transcription	HSMMtube	muscle
13	chr2:191658600-191664400	Weak transcription	NHEK	skin
14	chr2:191659600-191669800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:191659800-191665000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:191659800-191665000	Weak transcription	A549	lung
17	chr2:191660400-191668600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:191663200-191665000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:191663800-191665000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:191664000-191666400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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