Variant report

Variant	rs12275029
Chromosome Location	chr11:36244190-36244191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10836522	0.89[ASN][1000 genomes]
rs11033499	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11033502	0.85[CEU][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11551022	0.86[ASN][1000 genomes]
rs16928593	0.86[ASN][1000 genomes]
rs17813639	0.82[MEX][hapmap]
rs55680721	0.86[ASN][1000 genomes]
rs56290727	0.89[ASN][1000 genomes]
rs7931368	0.82[MEX][hapmap]
rs7943733	0.81[MEX][hapmap]

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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897225	chr11:36136912-36244190	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12275029	EIF3M	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36218000-36252200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:36219200-36248600	Weak transcription	Ovary	ovary
3	chr11:36221400-36248800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:36222800-36248800	Weak transcription	HSMMtube	muscle
5	chr11:36234000-36244600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:36234800-36248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:36234800-36254000	Weak transcription	Right Atrium	heart
8	chr11:36235800-36260400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:36236800-36273200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:36237000-36248600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:36237000-36248600	Weak transcription	Esophagus	oesophagus
12	chr11:36237800-36244400	Weak transcription	Fetal Kidney	kidney
13	chr11:36237800-36248600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:36237800-36250600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:36238600-36248800	Weak transcription	Fetal Intestine Large	intestine
16	chr11:36239800-36252200	Weak transcription	Hela-S3	cervix
17	chr11:36240400-36253800	Weak transcription	Psoas Muscle	Psoas
18	chr11:36242000-36247000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:36242000-36249000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:36242000-36249200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:36242000-36249800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:36242200-36248200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:36242200-36248600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:36242200-36249000	Weak transcription	HSMM	muscle
25	chr11:36242400-36244200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:36242400-36245200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:36242400-36247800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:36242600-36245800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:36243600-36244600	Enhancers	Brain Anterior Caudate	brain
30	chr11:36243800-36244200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:36243800-36254800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:36244000-36244400	Enhancers	Stomach Smooth Muscle	stomach
33	chr11:36244000-36245200	Enhancers	Fetal Intestine Small	intestine
34	chr11:36244000-36245200	Enhancers	NHEK	skin
35	chr11:36244000-36245400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:36244000-36246200	Enhancers	Brain Germinal Matrix	brain
37	chr11:36244000-36246400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:36244000-36246400	Enhancers	Fetal Stomach	stomach

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