Variant report

Variant	rs2291127
Chromosome Location	chr3:138122477-138122478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1199337	0.85[EUR][1000 genomes]
rs1199338	0.85[EUR][1000 genomes]
rs12695685	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13074317	1.00[ASN][1000 genomes]
rs13079209	1.00[ASN][1000 genomes]
rs13080413	1.00[ASN][1000 genomes]
rs13083299	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13096934	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13324341	0.83[EUR][1000 genomes]
rs185244	0.85[EUR][1000 genomes]
rs2279241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293251	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306374	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2347252	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34078858	0.84[ASN][1000 genomes]
rs34140440	0.90[ASN][1000 genomes]
rs34568901	1.00[ASN][1000 genomes]
rs34905952	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3732837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773750	1.00[ASN][1000 genomes]
rs59217491	0.84[ASN][1000 genomes]
rs6807945	0.83[EUR][1000 genomes]
rs9818870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9848655	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9851766	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9864898	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9872754	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1797142	chr3:138087467-138122781	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1845560	chr3:138087467-138133412	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv460864	chr3:138100539-138194435	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv591853	chr3:138100539-138194435	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv526089	chr3:138106698-138122781	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2291127	MRAS	cis	Artery Aorta	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138101400-138123000	Weak transcription	Fetal Lung	lung
2	chr3:138109600-138123000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:138109600-138124400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:138109800-138123000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:138109800-138124800	Weak transcription	NHLF	lung
6	chr3:138109800-138131400	Weak transcription	NHDF-Ad	bronchial
7	chr3:138114000-138126200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:138114800-138124600	Strong transcription	Fetal Stomach	stomach
9	chr3:138115400-138122600	Weak transcription	Colonic Mucosa	Colon
10	chr3:138115800-138125200	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:138116000-138124600	Strong transcription	Aorta	Aorta
12	chr3:138116000-138125200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:138116000-138125200	Strong transcription	HSMM	muscle
14	chr3:138116000-138125800	Strong transcription	Fetal Brain Female	brain
15	chr3:138116000-138127000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:138116200-138123200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:138116200-138125000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:138116200-138125800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:138116200-138126200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:138116400-138123000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:138116400-138125200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:138116600-138125200	Strong transcription	Brain Germinal Matrix	brain
23	chr3:138116800-138123800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:138116800-138124600	Strong transcription	Stomach Smooth Muscle	stomach
25	chr3:138117000-138125200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr3:138117200-138124600	Strong transcription	Adipose Nuclei	Adipose
27	chr3:138117200-138124600	Strong transcription	Lung	lung
28	chr3:138117200-138124800	Strong transcription	Osteobl	bone
29	chr3:138117200-138125000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:138117400-138126800	Weak transcription	Fetal Brain Male	brain
31	chr3:138118000-138122600	Weak transcription	Pancreas	Pancrea
32	chr3:138118000-138123000	Weak transcription	Gastric	stomach
33	chr3:138118000-138127000	Weak transcription	Fetal Kidney	kidney
34	chr3:138118000-138131800	Weak transcription	Right Atrium	heart
35	chr3:138118400-138123200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:138118400-138124600	Weak transcription	Fetal Intestine Small	intestine
37	chr3:138118400-138124800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:138118600-138123000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:138118800-138123800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:138118800-138124200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:138118800-138125200	Strong transcription	Brain Cingulate Gyrus	brain
42	chr3:138119200-138124000	Strong transcription	Brain Substantia Nigra	brain
43	chr3:138119400-138124400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:138119400-138127000	Weak transcription	Psoas Muscle	Psoas
45	chr3:138119600-138123800	Strong transcription	Ovary	ovary
46	chr3:138119600-138124000	Strong transcription	Placenta	Placenta
47	chr3:138119600-138124800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:138119600-138125000	Strong transcription	Fetal Muscle Leg	muscle
49	chr3:138120000-138124800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr3:138120200-138124800	Strong transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links