Variant report

Variant	rs2271900
Chromosome Location	chr8:121013770-121013771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11986039	1.00[ASN][1000 genomes]
rs11986628	1.00[CEU][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11993265	0.95[ASN][1000 genomes]
rs1401810	1.00[ASN][1000 genomes]
rs1401812	0.81[CEU][hapmap];0.96[ASN][1000 genomes]
rs1401813	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.82[MKK][hapmap];0.90[TSI][hapmap];0.96[ASN][1000 genomes]
rs1543200	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1543201	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.99[ASN][1000 genomes]
rs1850886	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1879150	0.99[ASN][1000 genomes]
rs1914992	0.83[CEU][hapmap]
rs2037342	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2037343	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2037344	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2102905	0.86[CEU][hapmap]
rs2139435	0.89[EUR][1000 genomes]
rs2139436	0.89[EUR][1000 genomes]
rs2139438	0.98[ASN][1000 genomes]
rs2139439	0.97[ASN][1000 genomes]
rs2176748	0.97[ASN][1000 genomes]
rs2176749	0.97[ASN][1000 genomes]
rs2176751	0.85[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2326428	0.99[ASN][1000 genomes]
rs2326430	0.97[ASN][1000 genomes]
rs2326433	0.95[ASN][1000 genomes]
rs2326434	1.00[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2875927	0.97[ASN][1000 genomes]
rs2875929	0.83[CEU][hapmap]
rs2875932	0.81[CEU][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28885745	0.99[ASN][1000 genomes]
rs4053282	0.95[CEU][hapmap];0.80[CHB][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs4086915	0.95[CEU][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4348544	0.95[ASN][1000 genomes]
rs4398969	0.90[EUR][1000 genomes]
rs4520205	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4621850	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871031	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.99[ASN][1000 genomes]
rs4871032	1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.80[TSI][hapmap];0.96[ASN][1000 genomes]
rs4871819	0.85[CHB][hapmap]
rs4871823	0.83[EUR][1000 genomes]
rs4871824	0.95[CEU][hapmap];0.85[CHB][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs6469882	0.84[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs6469888	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.99[ASN][1000 genomes]
rs6469891	0.96[ASN][1000 genomes]
rs6469893	0.92[ASN][1000 genomes]
rs6985424	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7012522	0.96[ASN][1000 genomes]
rs7386139	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.99[ASN][1000 genomes]
rs7387672	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7464941	0.95[ASN][1000 genomes]
rs7813264	0.98[ASN][1000 genomes]
rs7817075	0.98[ASN][1000 genomes]
rs7817379	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7821583	0.98[ASN][1000 genomes]
rs7821842	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.80[TSI][hapmap];0.98[ASN][1000 genomes]
rs7822000	0.98[ASN][1000 genomes]
rs7822384	0.94[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs7824637	0.91[ASN][1000 genomes]
rs7829279	0.99[ASN][1000 genomes]
rs7832657	0.98[ASN][1000 genomes]
rs7836786	0.85[CHB][hapmap]
rs7840668	0.90[ASN][1000 genomes]
rs7845541	0.95[ASN][1000 genomes]
rs7846263	0.96[ASN][1000 genomes]
rs867709	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9297609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv891419	chr8:120990455-121047798	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2271900	DVL3	trans	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120995600-121038400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:120995800-121013800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:121000600-121019600	Weak transcription	Left Ventricle	heart
4	chr8:121001800-121015600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:121001800-121021200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:121003200-121015200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:121003200-121015200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:121003600-121015200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:121003800-121014800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:121003800-121015200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:121004000-121013800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:121004000-121017600	Weak transcription	Right Atrium	heart
13	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
14	chr8:121004600-121015200	Weak transcription	Brain Anterior Caudate	brain
15	chr8:121004600-121041400	Weak transcription	Brain Angular Gyrus	brain
16	chr8:121004800-121017400	Weak transcription	Fetal Kidney	kidney
17	chr8:121005200-121015200	Weak transcription	Spleen	Spleen
18	chr8:121005200-121045800	Weak transcription	Psoas Muscle	Psoas
19	chr8:121005600-121015600	Weak transcription	Adipose Nuclei	Adipose
20	chr8:121005800-121015000	Weak transcription	Brain Substantia Nigra	brain
21	chr8:121006000-121013800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:121006000-121013800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:121006400-121015200	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:121006600-121015200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:121007000-121015200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:121011000-121013800	Weak transcription	Fetal Intestine Large	intestine
27	chr8:121011000-121016200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:121011400-121014000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:121011800-121014000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:121011800-121021000	Weak transcription	Thymus	Thymus
31	chr8:121012000-121015000	Weak transcription	Liver	Liver
32	chr8:121012200-121014400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:121012200-121015200	Weak transcription	Pancreas	Pancrea
34	chr8:121012200-121022200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:121012600-121015400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:121013200-121014800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:121013200-121029600	Weak transcription	Right Ventricle	heart
38	chr8:121013400-121014000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:121013400-121014000	Genic enhancers	Colon Smooth Muscle	Colon
40	chr8:121013400-121014200	Enhancers	NH-A	brain
41	chr8:121013400-121014400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:121013400-121014600	Enhancers	Osteobl	bone
43	chr8:121013400-121015200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr8:121013400-121015600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:121013400-121016000	Strong transcription	Fetal Intestine Small	intestine
46	chr8:121013400-121019800	Strong transcription	Fetal Stomach	stomach
47	chr8:121013400-121020000	Strong transcription	Fetal Muscle Leg	muscle
48	chr8:121013600-121013800	Enhancers	Esophagus	oesophagus
49	chr8:121013600-121013800	Enhancers	Lung	lung
50	chr8:121013600-121013800	Genic enhancers	Ovary	ovary

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