Variant report

Variant	rs12638750
Chromosome Location	chr3:24087133-24087134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:24086798..24089297-chr3:24089834..24092711,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1015922	0.94[EUR][1000 genomes]
rs1397878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1397883	0.95[ASN][1000 genomes]
rs1511542	0.90[ASN][1000 genomes]
rs17014075	0.97[ASN][1000 genomes]
rs17014078	1.00[ASN][1000 genomes]
rs1986889	0.87[ASN][1000 genomes]
rs2167116	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs34812592	0.90[ASN][1000 genomes]
rs4858571	0.90[ASN][1000 genomes]
rs4858580	0.94[EUR][1000 genomes]
rs57902237	0.94[EUR][1000 genomes]
rs62253421	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6550847	0.90[EUR][1000 genomes]
rs6782675	0.81[EUR][1000 genomes]
rs6794000	0.92[EUR][1000 genomes]
rs6798478	0.81[EUR][1000 genomes]
rs7372315	0.90[ASN][1000 genomes]
rs7428850	0.81[EUR][1000 genomes]
rs7625823	0.94[EUR][1000 genomes]
rs7634542	0.92[EUR][1000 genomes]
rs7635612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9310728	0.83[EUR][1000 genomes]
rs9831916	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9990311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.85[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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834638	chr3:23963860-24117191	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv834639	chr3:24037113-24233925	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1004037	chr3:24064777-24143719	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24079600-24090400	Weak transcription	Lung	lung
2	chr3:24079800-24088200	Weak transcription	Spleen	Spleen
3	chr3:24083400-24089000	Weak transcription	Psoas Muscle	Psoas
4	chr3:24084600-24087200	Enhancers	Rectal Smooth Muscle	rectum
5	chr3:24084600-24088600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:24084600-24088800	Weak transcription	HSMMtube	muscle
7	chr3:24084600-24089000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:24084600-24089400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:24084800-24088600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:24084800-24088800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:24084800-24088800	Weak transcription	NHLF	lung
12	chr3:24085000-24087800	Weak transcription	NHDF-Ad	bronchial
13	chr3:24085000-24088200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:24085000-24088600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:24085000-24088800	Weak transcription	Ovary	ovary
16	chr3:24085000-24089000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:24085000-24089000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:24085000-24089000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:24085200-24088800	Weak transcription	Adipose Nuclei	Adipose
20	chr3:24085200-24089200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:24086200-24088800	Weak transcription	Placenta	Placenta
22	chr3:24086600-24087400	Weak transcription	Aorta	Aorta
23	chr3:24087000-24088800	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links