Variant report

Variant	rs4150514
Chromosome Location	chr2:128019178-128019179
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10167294	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10928764	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1143407	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684068	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11899601	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12613252	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12613254	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12613413	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12614320	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12617858	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619391	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13017103	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13034157	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13390029	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13403918	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409933	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13414676	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13429925	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2134794	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2139142	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2276682	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2276683	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28807127	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3088374	0.87[ASN][1000 genomes]
rs34006114	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34441363	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34487399	0.92[EUR][1000 genomes]
rs34601617	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34703177	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35708549	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3738948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3893313	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4150434	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150492	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150506	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4300780	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4359587	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4528711	0.88[EUR][1000 genomes]
rs4662721	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4662724	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58063879	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59027829	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6430937	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6716392	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6735779	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6738811	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6747862	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6752139	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67771362	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7584659	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9752366	0.85[EUR][1000 genomes]
rs9923	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs4150514	AC068282.3	cis	lung	GTEx
rs4150514	AC068282.3	cis	Thyroid	GTEx
rs4150514	AC068282.3	cis	Heart Left Ventricle	GTEx
rs4150514	AC068282.3	cis	Muscle Skeletal	GTEx
rs4150514	AC068282.3	cis	Artery Aorta	GTEx
rs4150514	AC068282.3	cis	Whole Blood	GTEx
rs4150514	AC068282.3	cis	Esophagus Mucosa	GTEx
rs4150514	AC068282.3	cis	Artery Tibial	GTEx
rs4150514	MAP3K2	cis	multi-tissue	Pritchard
rs4150514	AC068282.3	cis	Esophagus Muscularis	GTEx
rs4150514	AC068282.3	cis	Stomach	GTEx
rs4150514	AC068282.3	cis	Nerve Tibial	GTEx
rs4150514	AC068282.3	cis	Skin Sun Exposed Lower leg	GTEx
rs4150514	AC068282.3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128012400-128028000	Weak transcription	Hela-S3	cervix
2	chr2:128012600-128026200	Weak transcription	Stomach Mucosa	stomach
3	chr2:128012800-128019600	Strong transcription	GM12878-XiMat	blood
4	chr2:128012800-128020800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:128013000-128020200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:128013000-128020600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:128013000-128020600	Strong transcription	Fetal Brain Female	brain
8	chr2:128013000-128020600	Strong transcription	Dnd41	blood
9	chr2:128013000-128020800	Strong transcription	Fetal Intestine Large	intestine
10	chr2:128013000-128021200	Strong transcription	Primary T cells from cord blood	blood
11	chr2:128013000-128021800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:128013200-128020400	Strong transcription	HepG2	liver
13	chr2:128013200-128020600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:128013200-128020800	Strong transcription	Primary hematopoietic stem cells	blood
15	chr2:128013400-128019200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:128013400-128019400	Strong transcription	Fetal Stomach	stomach
17	chr2:128013400-128019600	Strong transcription	Placenta	Placenta
18	chr2:128013400-128020000	Strong transcription	Lung	lung
19	chr2:128013400-128020200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:128013400-128020200	Strong transcription	Fetal Intestine Small	intestine
21	chr2:128013400-128020200	Strong transcription	Thymus	Thymus
22	chr2:128013400-128020600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:128013400-128020600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:128013400-128020800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:128013400-128020800	Strong transcription	Left Ventricle	heart
26	chr2:128013400-128022400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:128013600-128019800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr2:128013600-128020800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:128013600-128020800	Strong transcription	Liver	Liver
30	chr2:128013600-128036200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:128013800-128019200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:128013800-128019600	Strong transcription	NH-A	brain
33	chr2:128013800-128020200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:128014000-128019200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr2:128014000-128019200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:128014000-128019200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:128014000-128019200	Strong transcription	Fetal Lung	lung
38	chr2:128014000-128019200	Strong transcription	Osteobl	bone
39	chr2:128014000-128019400	Strong transcription	Brain Hippocampus Middle	brain
40	chr2:128014000-128019400	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:128014000-128020400	Strong transcription	Brain Germinal Matrix	brain
42	chr2:128014000-128020600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:128014000-128020600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:128014000-128020600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr2:128014000-128020600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:128014000-128020600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr2:128014000-128020800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:128014000-128020800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:128014000-128020800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:128014000-128020800	Strong transcription	Stomach Smooth Muscle	stomach

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