Variant report

Variant	rs11687908
Chromosome Location	chr2:190120033-190120034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10497699	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931402	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10931406	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10931410	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11675295	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11676812	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11677073	0.87[ASN][1000 genomes]
rs11678388	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11681937	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11684417	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11684869	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11690774	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11693810	0.87[ASN][1000 genomes]
rs11695837	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12472232	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1515873	0.82[ASN][1000 genomes]
rs1515875	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1519185	0.87[ASN][1000 genomes]
rs1520862	0.87[ASN][1000 genomes]
rs17198773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17198780	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17198787	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17198815	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198829	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17198857	0.95[CEU][hapmap]
rs17270952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17270966	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17270973	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17270987	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17271008	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17271015	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17271036	0.95[CEU][hapmap]
rs17271043	0.95[CEU][hapmap]
rs1996576	0.87[ASN][1000 genomes]
rs2683013	0.87[ASN][1000 genomes]
rs2683014	0.87[ASN][1000 genomes]
rs28413975	0.81[ASN][1000 genomes]
rs35598715	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55851872	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56252219	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56381644	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59031473	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61130121	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61528955	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62182060	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62182061	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62182066	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62182068	0.87[ASN][1000 genomes]
rs62182069	0.87[ASN][1000 genomes]
rs62182415	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62182421	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62182457	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62182458	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62182459	0.89[EUR][1000 genomes]
rs62183794	0.88[ASN][1000 genomes]
rs62183841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183844	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183845	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183846	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62183847	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62183848	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72908368	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72908382	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72910347	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72910360	0.91[EUR][1000 genomes]
rs72912280	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72912286	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72914135	0.82[ASN][1000 genomes]
rs72914141	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7564429	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7577872	0.84[ASN][1000 genomes]
rs7586853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1014747	chr2:190097979-190132854	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190115600-190126200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:190119400-190120400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:190119600-190120200	Enhancers	A549	lung
4	chr2:190119600-190123200	Weak transcription	Left Ventricle	heart
5	chr2:190119600-190123600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:190119600-190123600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:190119600-190126400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:190119800-190120200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:190119800-190120200	Enhancers	NHDF-Ad	bronchial
10	chr2:190119800-190124600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:190119800-190125000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:190119800-190125000	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:190119800-190125000	Weak transcription	NH-A	brain
14	chr2:190119800-190125200	Weak transcription	Fetal Lung	lung
15	chr2:190119800-190127800	Weak transcription	Aorta	Aorta
16	chr2:190120000-190125000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:190120000-190125000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:190120000-190125000	Weak transcription	Osteobl	bone
19	chr2:190120000-190125400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:190120000-190126000	Weak transcription	NHLF	lung

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