Variant report

Variant	rs10167453
Chromosome Location	chr2:37238677-37238678
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37237050..37239169-chr2:37241274..37243867,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10048628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs1008838	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs10177166	0.95[EUR][1000 genomes]
rs10177905	1.00[CHD][hapmap]
rs10185540	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10198470	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10490656	1.00[CHB][hapmap]
rs12464180	1.00[CHD][hapmap]
rs13405972	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13410628	1.00[CHB][hapmap]
rs13416820	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13420719	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13432823	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs17332720	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs17404648	1.00[CHD][hapmap]
rs17498637	1.00[CHB][hapmap]
rs17505250	1.00[CHB][hapmap];0.85[TSI][hapmap]
rs2110882	1.00[CHB][hapmap]
rs2247010	1.00[CHD][hapmap]
rs2540923	1.00[CHD][hapmap]
rs2541000	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs2691111	1.00[CHD][hapmap]
rs28482188	0.90[EUR][1000 genomes]
rs3770768	1.00[CHB][hapmap]
rs4648186	1.00[CHB][hapmap]
rs6716891	1.00[CHD][hapmap]
rs7577081	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7595362	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv581471	chr2:37213186-37257386	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv581472	chr2:37235324-37291320	Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1820206	chr2:37236821-37277811	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10167453	VIT	cis	cerebellum	SCAN
rs10167453	EIF2AK2	cis	cerebellum	SCAN
rs10167453	CEBPZ	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:37195400-37248600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
4	chr2:37214200-37248400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:37216000-37239800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:37219200-37256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:37220000-37239600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr2:37224000-37256000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:37224000-37270600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:37224600-37248200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:37225200-37239800	Weak transcription	Colonic Mucosa	Colon
15	chr2:37225400-37238800	Strong transcription	Fetal Muscle Leg	muscle
16	chr2:37226800-37256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:37227400-37239600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:37227800-37246000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:37228000-37247200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:37228600-37240600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:37228600-37267000	Weak transcription	Stomach Mucosa	stomach
22	chr2:37229800-37251200	Weak transcription	K562	blood
23	chr2:37230000-37239800	Weak transcription	Esophagus	oesophagus
24	chr2:37230000-37242000	Weak transcription	A549	lung
25	chr2:37230400-37239600	Weak transcription	Gastric	stomach
26	chr2:37230400-37239800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:37230400-37245600	Weak transcription	Spleen	Spleen
28	chr2:37230400-37248400	Weak transcription	Right Ventricle	heart
29	chr2:37230600-37239600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:37230800-37239800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:37230800-37248200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:37231400-37239800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:37231800-37239800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:37231800-37240000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:37232600-37239200	Weak transcription	Brain Anterior Caudate	brain
36	chr2:37232600-37248200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:37232800-37239800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:37232800-37239800	Weak transcription	Ovary	ovary
39	chr2:37232800-37239800	Weak transcription	NHLF	lung
40	chr2:37232800-37240600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:37232800-37248400	Weak transcription	Psoas Muscle	Psoas
42	chr2:37232800-37251000	Weak transcription	Brain Substantia Nigra	brain
43	chr2:37233000-37239600	Weak transcription	HMEC	breast
44	chr2:37233000-37239800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:37233000-37239800	Weak transcription	Hela-S3	cervix
46	chr2:37233000-37242600	Weak transcription	Brain Angular Gyrus	brain
47	chr2:37233000-37245600	Weak transcription	Pancreas	Pancrea
48	chr2:37233000-37253000	Weak transcription	NHEK	skin
49	chr2:37233400-37240000	Weak transcription	NH-A	brain
50	chr2:37233400-37242200	Weak transcription	HUVEC	blood vessel

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