Variant report

Variant	rs62157508
Chromosome Location	chr2:128027248-128027249
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1011019	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10496661	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10850	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11680877	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11691916	0.81[AFR][1000 genomes]
rs11692990	0.80[AFR][1000 genomes]
rs1504135	0.89[EUR][1000 genomes]
rs2896979	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3958415	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4150402	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4150404	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4150421	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4150471	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4150474	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4150476	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4150499	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4662713	0.89[EUR][1000 genomes]
rs4662718	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4662719	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4662720	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59378658	0.81[AFR][1000 genomes]
rs61422716	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6430933	0.89[EUR][1000 genomes]
rs6430936	0.89[EUR][1000 genomes]
rs6731332	0.89[EUR][1000 genomes]
rs6733478	0.89[EUR][1000 genomes]
rs6738690	0.88[EUR][1000 genomes]
rs6744237	0.89[EUR][1000 genomes]
rs72845975	0.83[EUR][1000 genomes]
rs72845976	0.83[EUR][1000 genomes]
rs72845991	0.81[AFR][1000 genomes]
rs72846002	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72848604	0.81[AFR][1000 genomes]
rs72848615	0.80[AFR][1000 genomes]
rs7556675	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7556756	0.87[EUR][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	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs62157508	ERCC3	cis	Nerve Tibial	GTEx
rs62157508	ERCC3	cis	Esophagus Muscularis	GTEx
rs62157508	ERCC3	cis	Thyroid	GTEx
rs62157508	ERCC3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128012400-128028000	Weak transcription	Hela-S3	cervix
2	chr2:128013600-128036200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:128014000-128041000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:128014600-128041000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:128016200-128027800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:128017200-128027400	Weak transcription	Esophagus	oesophagus
7	chr2:128017600-128027800	Weak transcription	Small Intestine	intestine
8	chr2:128019000-128027400	Weak transcription	Fetal Brain Male	brain
9	chr2:128019000-128027400	Weak transcription	Pancreas	Pancrea
10	chr2:128019000-128027600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:128019000-128028200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:128019000-128028200	Weak transcription	NHLF	lung
13	chr2:128019400-128027800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:128019400-128028000	Weak transcription	K562	blood
15	chr2:128020200-128028000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:128021200-128050000	Strong transcription	Fetal Stomach	stomach
17	chr2:128022200-128028200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:128023200-128036200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:128023200-128041000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr2:128023400-128050400	Strong transcription	Liver	Liver
21	chr2:128023800-128039400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:128024000-128040800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:128024200-128032800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:128024200-128036200	Strong transcription	Placenta	Placenta
25	chr2:128024200-128036200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:128024200-128038200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:128024200-128040800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:128024200-128050600	Strong transcription	Fetal Intestine Large	intestine
29	chr2:128024400-128032600	Strong transcription	HSMMtube	muscle
30	chr2:128024400-128036200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:128024400-128038400	Strong transcription	Ovary	ovary
32	chr2:128024400-128040800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:128024400-128041000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:128024400-128041000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:128024400-128041000	Strong transcription	Fetal Muscle Leg	muscle
36	chr2:128024400-128049600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr2:128024400-128049800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr2:128024400-128050000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:128024400-128050200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:128024400-128050200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:128024400-128050200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:128024400-128050400	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:128024400-128050400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:128024400-128050400	Strong transcription	Thymus	Thymus
45	chr2:128024400-128050800	Strong transcription	Fetal Thymus	thymus
46	chr2:128024600-128031000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:128024600-128033600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:128024600-128033600	Strong transcription	Colon Smooth Muscle	Colon
49	chr2:128024600-128034000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:128024600-128036200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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