Variant report

Variant	rs2192771
Chromosome Location	chr2:40509154-40509155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1002671	0.89[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs10490053	0.89[CHB][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs11891800	1.00[CEU][hapmap];0.90[GIH][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs11902975	1.00[CEU][hapmap];0.85[GIH][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12995402	0.84[CHD][hapmap];0.85[GIH][hapmap];0.83[ASN][1000 genomes]
rs13001457	0.95[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13001473	0.94[CEU][hapmap];0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs13005761	0.90[CEU][hapmap];0.85[CHB][hapmap];0.82[GIH][hapmap];0.80[TSI][hapmap];0.82[ASN][1000 genomes]
rs13026979	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17025769	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17025783	1.00[CEU][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17025800	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17025804	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs17025810	0.80[CHB][hapmap]
rs1990607	0.86[EUR][1000 genomes]
rs2192769	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2192770	0.89[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2287051	0.95[CEU][hapmap];0.80[CHB][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287053	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34409901	0.91[ASN][1000 genomes]
rs34512805	0.82[ASN][1000 genomes]
rs34609846	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35264779	0.82[ASN][1000 genomes]
rs35639785	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35776185	0.88[ASN][1000 genomes]
rs35892964	0.82[ASN][1000 genomes]
rs35977357	0.87[ASN][1000 genomes]
rs4952403	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4952603	0.95[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4952604	0.95[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4952605	0.95[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4952607	0.95[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4952609	0.95[CEU][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs56707698	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62150808	0.86[ASN][1000 genomes]
rs62150809	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62150812	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66566834	0.82[ASN][1000 genomes]
rs6729923	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6730154	1.00[CEU][hapmap];0.85[GIH][hapmap];0.84[MEX][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs727477	0.90[CEU][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap]
rs72796683	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72796684	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs741287	0.95[CEU][hapmap]
rs994419	0.89[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.92[ASN][1000 genomes]
rs994420	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40498400-40509800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:40500200-40514600	Weak transcription	Fetal Brain Male	brain
3	chr2:40503600-40509600	Weak transcription	Left Ventricle	heart
4	chr2:40503600-40510200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:40503600-40514800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:40504000-40510600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:40504000-40510800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:40506000-40509200	Enhancers	Fetal Intestine Small	intestine
9	chr2:40506200-40510800	Enhancers	HMEC	breast
10	chr2:40506400-40510600	Enhancers	Fetal Heart	heart
11	chr2:40506400-40516800	Weak transcription	Small Intestine	intestine
12	chr2:40506600-40509400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:40506600-40511000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:40506600-40514600	Weak transcription	Brain Germinal Matrix	brain
15	chr2:40506800-40509400	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:40506800-40509400	Enhancers	NHDF-Ad	bronchial
17	chr2:40506800-40509600	Enhancers	Colon Smooth Muscle	Colon
18	chr2:40506800-40510000	Weak transcription	Brain Angular Gyrus	brain
19	chr2:40506800-40510400	Weak transcription	Brain Substantia Nigra	brain
20	chr2:40506800-40517200	Weak transcription	Dnd41	blood
21	chr2:40507000-40509600	Weak transcription	Psoas Muscle	Psoas
22	chr2:40507400-40511000	Enhancers	NHEK	skin
23	chr2:40507600-40509200	Enhancers	Fetal Intestine Large	intestine
24	chr2:40507600-40509800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:40507600-40510600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:40507600-40511200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:40507800-40509200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:40507800-40509200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:40507800-40509400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:40508000-40509400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:40508000-40510200	Enhancers	NH-A	brain
32	chr2:40508000-40511400	Flanking Active TSS	HSMMtube	muscle
33	chr2:40508000-40517200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:40508200-40509400	Enhancers	Adipose Nuclei	Adipose
35	chr2:40508200-40509400	Enhancers	Aorta	Aorta
36	chr2:40508200-40509400	Enhancers	Fetal Lung	lung
37	chr2:40508200-40509400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr2:40508200-40509400	Enhancers	GM12878-XiMat	blood
39	chr2:40508200-40509600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:40508400-40509400	Enhancers	Primary B cells from peripheral blood	blood
41	chr2:40508400-40511000	Enhancers	Brain Hippocampus Middle	brain
42	chr2:40508600-40509200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:40508600-40509200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr2:40508600-40509200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr2:40508600-40509200	Flanking Active TSS	NHLF	lung
46	chr2:40508600-40509600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:40508600-40510200	Flanking Active TSS	HSMM	muscle
48	chr2:40508600-40510600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:40508600-40511400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr2:40508800-40509200	Enhancers	Primary B cells from cord blood	blood

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