Variant report

Variant	rs17710065
Chromosome Location	chr2:174005866-174005867
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11680555	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11687539	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12463612	0.80[CEU][hapmap]
rs17710437	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1809139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2043950	0.83[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs2358088	0.85[ASN][1000 genomes]
rs3754739	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3754747	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3769159	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3769162	0.83[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs3769163	1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769173	0.85[ASN][1000 genomes]
rs3820835	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4399689	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4972529	0.83[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap]
rs4972532	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56980119	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59500540	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61264428	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62175824	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6742219	0.80[CEU][hapmap]
rs6759847	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs722864	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs734993	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73974105	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs746179	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7567355	0.82[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7575319	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7599340	0.87[CEU][hapmap]
rs7601536	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs935006	0.87[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs935007	0.93[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17710065	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
2	chr2:173989200-174006000	Weak transcription	Primary B cells from cord blood	blood
3	chr2:173989600-174007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:173996600-174012800	Weak transcription	Ovary	ovary
5	chr2:173996600-174013400	Weak transcription	Aorta	Aorta
6	chr2:174001600-174006000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:174001600-174012800	Weak transcription	Left Ventricle	heart
8	chr2:174001600-174013200	Weak transcription	HUVEC	blood vessel
9	chr2:174002000-174010800	Weak transcription	NHLF	lung
10	chr2:174002000-174012800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:174002200-174010200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:174002200-174012800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:174002200-174012800	Weak transcription	Osteobl	bone
14	chr2:174002200-174014600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:174002200-174014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:174002600-174006000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:174002600-174006000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:174002600-174006000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:174002800-174013000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:174003000-174006800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:174004000-174006000	Weak transcription	HMEC	breast
22	chr2:174004200-174006800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:174005200-174008000	ZNF genes & repeats	A549	lung
24	chr2:174005400-174006800	Weak transcription	Fetal Intestine Small	intestine
25	chr2:174005400-174007200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:174005400-174008600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:174005600-174012800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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