Variant report

Variant	rs10181133
Chromosome Location	chr2:174027545-174027546
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10182247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10198981	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap]
rs10497401	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11249	0.85[CHB][hapmap]
rs11677913	0.86[YRI][hapmap]
rs11887008	0.85[CHB][hapmap]
rs11897681	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008554	0.92[CEU][hapmap]
rs13034748	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13035366	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13313780	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13385996	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13430550	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13430650	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1371573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1439977	0.91[YRI][hapmap]
rs16861393	0.85[CHB][hapmap]
rs16861404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1866634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289396	0.87[YRI][hapmap]
rs2358087	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754740	0.93[ASN][1000 genomes]
rs3769165	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs3769174	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769177	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4972399	0.85[CHB][hapmap]
rs4972535	0.84[CEU][hapmap];0.95[YRI][hapmap]
rs4972536	0.88[YRI][hapmap]
rs6734666	0.96[YRI][hapmap]
rs7566372	0.89[EUR][1000 genomes];0.90[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
rs10181133	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174015400-174047000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:174016200-174048800	Weak transcription	K562	blood
3	chr2:174016400-174028200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:174021600-174027800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:174021600-174030400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:174022000-174027800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:174024800-174037200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:174025000-174028000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:174025200-174029200	Weak transcription	HUVEC	blood vessel
10	chr2:174025800-174030000	Weak transcription	Ovary	ovary
11	chr2:174026000-174029400	Weak transcription	Fetal Lung	lung
12	chr2:174026000-174030600	Weak transcription	Pancreas	Pancrea
13	chr2:174026000-174036800	Weak transcription	Small Intestine	intestine
14	chr2:174026000-174037400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:174026000-174037800	Weak transcription	Aorta	Aorta
16	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
17	chr2:174026200-174027600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:174026200-174035200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:174026200-174036800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:174026200-174040600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:174026200-174045000	Weak transcription	Fetal Intestine Small	intestine
22	chr2:174026400-174030200	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:174026400-174030400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:174026400-174030600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:174026400-174036600	Weak transcription	NHEK	skin
26	chr2:174026400-174039600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:174026400-174047600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:174026600-174027600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:174026600-174027600	Enhancers	Left Ventricle	heart
30	chr2:174026600-174027800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:174026600-174028000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:174026600-174028000	Weak transcription	Adipose Nuclei	Adipose
33	chr2:174026600-174029000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:174026600-174029000	Weak transcription	NHDF-Ad	bronchial
35	chr2:174026600-174029200	Weak transcription	A549	lung
36	chr2:174026600-174030000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:174026600-174030400	Weak transcription	Psoas Muscle	Psoas
38	chr2:174026600-174030800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:174026600-174037800	Weak transcription	Right Ventricle	heart
40	chr2:174026600-174048800	Weak transcription	Liver	Liver
41	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
42	chr2:174026800-174028200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:174026800-174030200	Weak transcription	Hela-S3	cervix
44	chr2:174027000-174028000	Weak transcription	NHLF	lung
45	chr2:174027000-174028200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:174027000-174028200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:174027000-174029400	Weak transcription	HepG2	liver
48	chr2:174027000-174032800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:174027200-174030800	Weak transcription	Fetal Intestine Large	intestine
50	chr2:174027400-174027600	ZNF genes & repeats	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links