Variant report

Variant	rs6414123
Chromosome Location	chr2:190133289-190133290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190127804..190129653-chr2:190131689..190133883,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10193669	1.00[JPT][hapmap]
rs10194053	1.00[JPT][hapmap]
rs10196323	1.00[JPT][hapmap]
rs10196675	1.00[JPT][hapmap]
rs10202907	1.00[JPT][hapmap]
rs10206086	1.00[JPT][hapmap]
rs10207860	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469738	1.00[ASN][1000 genomes]
rs12886	0.83[ASN][1000 genomes]
rs13388366	1.00[JPT][hapmap]
rs13392978	1.00[JPT][hapmap]
rs13405433	0.87[EUR][1000 genomes]
rs13424586	0.87[EUR][1000 genomes]
rs13427051	1.00[JPT][hapmap]
rs13428976	1.00[JPT][hapmap]
rs13429203	1.00[JPT][hapmap]
rs13430879	1.00[JPT][hapmap]
rs13430915	1.00[JPT][hapmap]
rs1464136	0.92[AFR][1000 genomes]
rs1606931	0.92[AFR][1000 genomes]
rs28545536	0.87[EUR][1000 genomes]
rs55749146	0.83[ASN][1000 genomes]
rs56339059	0.83[ASN][1000 genomes]
rs59291399	0.83[ASN][1000 genomes]
rs59631824	0.83[ASN][1000 genomes]
rs6724646	1.00[JPT][hapmap]
rs6725458	1.00[JPT][hapmap]
rs6728197	1.00[JPT][hapmap]
rs6737615	1.00[JPT][hapmap]
rs6740926	1.00[JPT][hapmap]
rs6740999	1.00[JPT][hapmap]
rs6754272	1.00[JPT][hapmap]
rs6761847	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978837	0.83[ASN][1000 genomes]
rs73981485	0.83[ASN][1000 genomes]
rs73981487	0.83[ASN][1000 genomes]
rs73981488	0.83[ASN][1000 genomes]
rs73981489	0.83[ASN][1000 genomes]
rs7572416	1.00[JPT][hapmap]
rs7577872	0.93[AFR][1000 genomes]
rs7582435	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586	0.83[ASN][1000 genomes]
rs7586032	1.00[JPT][hapmap]
rs7592383	1.00[JPT][hapmap]
rs7596033	0.86[AFR][1000 genomes]
rs7599216	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599676	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7606348	1.00[JPT][hapmap]
rs7606355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870922	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190131800-190133600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:190131800-190133800	Enhancers	NHDF-Ad	bronchial
3	chr2:190131800-190134200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:190132000-190133800	Enhancers	HSMM	muscle
5	chr2:190132000-190133800	Enhancers	NHLF	lung
6	chr2:190132000-190134000	Enhancers	Osteobl	bone
7	chr2:190132200-190133400	Enhancers	A549	lung
8	chr2:190132200-190133400	Enhancers	NH-A	brain
9	chr2:190132400-190133600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:190132400-190133600	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:190132600-190133600	Weak transcription	HSMMtube	muscle
12	chr2:190132600-190134400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:190132800-190133400	Enhancers	HMEC	breast
14	chr2:190133200-190133800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:190133200-190133800	Enhancers	Fetal Lung	lung
16	chr2:190133200-190140800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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