Variant report

Variant	rs12988894
Chromosome Location	chr2:145850952-145850953
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	chr2:145849978..145851703-chr2:145855992..145857835,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10496972	0.82[EUR][1000 genomes]
rs10496974	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12618916	0.87[ASN][1000 genomes]
rs13014698	0.92[ASN][1000 genomes]
rs13026163	0.88[ASN][1000 genomes]
rs13035660	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13408842	0.87[ASN][1000 genomes]
rs16824481	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16824484	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1852681	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1997287	0.92[ASN][1000 genomes]
rs28409418	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28534561	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28837998	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35541381	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35690045	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4662233	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6740528	0.82[ASN][1000 genomes]
rs67571782	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs68088326	0.97[ASN][1000 genomes]
rs7426239	0.90[ASN][1000 genomes]
rs7561039	0.82[EUR][1000 genomes]
rs787428	0.86[ASN][1000 genomes]
rs787429	0.86[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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv875262	chr2:145830053-145888369	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv875263	chr2:145830053-145892427	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv875264	chr2:145830053-145911634	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145830400-145863200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:145846600-145851000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:145846800-145853400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:145849800-145853600	Weak transcription	A549	lung
5	chr2:145850000-145852000	Weak transcription	NHEK	skin
6	chr2:145850000-145852200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:145850000-145853200	Weak transcription	NHLF	lung
8	chr2:145850000-145858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:145850200-145851600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:145850200-145852200	Weak transcription	NHDF-Ad	bronchial
11	chr2:145850200-145852200	Weak transcription	Osteobl	bone
12	chr2:145850200-145852400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:145850200-145853400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:145850200-145853400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:145850200-145853400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:145850200-145853400	Weak transcription	HMEC	breast
17	chr2:145850400-145852000	Weak transcription	HSMM	muscle
18	chr2:145850600-145851000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:145850600-145853200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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