Variant report

Variant	rs11691887
Chromosome Location	chr2:33478765-33478766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10048733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10084248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10167324	0.89[ASN][1000 genomes]
rs10167399	0.89[ASN][1000 genomes]
rs10170980	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10173416	1.00[ASN][1000 genomes]
rs10189948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10195782	0.89[ASN][1000 genomes]
rs10201015	0.89[ASN][1000 genomes]
rs10201397	0.89[ASN][1000 genomes]
rs10201620	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10204479	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10205515	0.89[ASN][1000 genomes]
rs10514773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11675702	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685108	1.00[TSI][hapmap]
rs11686962	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692723	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11886226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs11886337	0.89[ASN][1000 genomes]
rs11898777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13392128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13408945	0.89[ASN][1000 genomes]
rs13417478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13417974	0.84[ASN][1000 genomes]
rs13431080	0.84[ASN][1000 genomes]
rs17012612	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17012615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17012621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17012646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17012655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17012657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17012674	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17012680	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17012691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17012720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17012778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1812485	1.00[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes]
rs2004437	0.95[ASN][1000 genomes]
rs2167973	0.81[CEU][hapmap]
rs2290427	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2290447	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3769532	0.82[AFR][1000 genomes]
rs3769546	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4578839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4641915	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs55852365	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57095191	0.89[ASN][1000 genomes]
rs57119251	0.89[ASN][1000 genomes]
rs57408328	0.84[ASN][1000 genomes]
rs60523332	0.89[ASN][1000 genomes]
rs60912788	0.84[ASN][1000 genomes]
rs61609498	0.84[ASN][1000 genomes]
rs61754245	1.00[ASN][1000 genomes]
rs6543693	0.84[ASN][1000 genomes]
rs6543694	0.84[ASN][1000 genomes]
rs6543695	0.84[ASN][1000 genomes]
rs6543696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6543697	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6706122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6710501	0.83[AFR][1000 genomes]
rs6718325	0.84[ASN][1000 genomes]
rs6722904	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6728561	0.89[ASN][1000 genomes]
rs6730109	0.84[ASN][1000 genomes]
rs6730341	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6734291	0.89[ASN][1000 genomes]
rs6746796	0.84[ASN][1000 genomes]
rs6752708	0.89[ASN][1000 genomes]
rs6757287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6757381	0.89[ASN][1000 genomes]
rs6760864	1.00[ASN][1000 genomes]
rs72855723	0.84[ASN][1000 genomes]
rs72855746	0.89[ASN][1000 genomes]
rs72855774	0.89[ASN][1000 genomes]
rs72855787	0.89[ASN][1000 genomes]
rs72858037	0.89[ASN][1000 genomes]
rs72858071	1.00[ASN][1000 genomes]
rs72858072	1.00[ASN][1000 genomes]
rs73927364	0.95[ASN][1000 genomes]
rs7583435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7603774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7606937	0.89[ASN][1000 genomes]
rs921705	0.96[YRI][hapmap]
rs9308932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs963025	0.96[YRI][hapmap];0.95[AFR][1000 genomes]
rs964701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9751070	0.86[AFR][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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33466400-33497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:33466800-33491200	Weak transcription	Right Ventricle	heart
5	chr2:33468200-33491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:33469800-33486200	Weak transcription	NHDF-Ad	bronchial
7	chr2:33470400-33479400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:33471200-33480800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:33471800-33491200	Weak transcription	Pancreas	Pancrea
10	chr2:33472000-33489800	Weak transcription	A549	lung
11	chr2:33472000-33491200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
13	chr2:33472400-33491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:33472600-33492800	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:33473200-33486600	Weak transcription	Fetal Lung	lung
16	chr2:33473600-33489800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:33473800-33484000	Strong transcription	Osteobl	bone
18	chr2:33474000-33491000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:33474200-33491200	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:33474400-33489800	Weak transcription	Placenta	Placenta
21	chr2:33474400-33490000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:33474800-33479000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:33475400-33478800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:33475600-33478800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:33475600-33479000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr2:33475600-33482400	Weak transcription	Fetal Heart	heart
27	chr2:33476000-33479600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:33476200-33490000	Weak transcription	Esophagus	oesophagus
29	chr2:33476200-33490000	Weak transcription	Fetal Intestine Small	intestine
30	chr2:33476200-33491000	Weak transcription	Gastric	stomach
31	chr2:33476400-33487000	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:33476400-33487400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:33476400-33488200	Weak transcription	Ovary	ovary
34	chr2:33476600-33482400	Weak transcription	Left Ventricle	heart
35	chr2:33476600-33488400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:33477000-33479000	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr2:33477200-33478800	Strong transcription	NH-A	brain
38	chr2:33477400-33491000	Weak transcription	Fetal Stomach	stomach
39	chr2:33477600-33489800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:33477800-33478800	Strong transcription	NHLF	lung
41	chr2:33478000-33478800	Strong transcription	Liver	Liver
42	chr2:33478000-33479400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:33478000-33482400	Weak transcription	Aorta	Aorta
44	chr2:33478000-33491000	Weak transcription	Lung	lung
45	chr2:33478200-33478800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:33478200-33480600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:33478400-33484400	Weak transcription	Stomach Mucosa	stomach
48	chr2:33478600-33478800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:33478600-33481000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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