Variant report

Variant	rs72712496
Chromosome Location	chr4:142729723-142729724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10010190	0.93[ASN][1000 genomes]
rs10018731	1.00[ASN][1000 genomes]
rs11932790	0.97[ASN][1000 genomes]
rs11937562	0.97[ASN][1000 genomes]
rs12640909	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1493016	1.00[ASN][1000 genomes]
rs17644878	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17644908	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17645483	1.00[ASN][1000 genomes]
rs17701891	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17702304	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2067811	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2120051	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2241911	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2322353	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28510073	0.93[ASN][1000 genomes]
rs28513280	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2874763	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4487442	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55696450	0.97[ASN][1000 genomes]
rs55748334	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56410852	0.97[ASN][1000 genomes]
rs58462825	0.97[ASN][1000 genomes]
rs72712491	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72714418	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs923795	1.00[ASN][1000 genomes]
rs9999761	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3401979	chr4:142434442-142803321	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1018949	chr4:142451823-142732365	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv830095	chr4:142695078-142884988	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142728800-142732400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:142729000-142730000	Weak transcription	Brain Germinal Matrix	brain
3	chr4:142729000-142730800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:142729000-142731000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:142729000-142731200	Weak transcription	HSMM	muscle
6	chr4:142729000-142731600	Weak transcription	NH-A	brain
7	chr4:142729000-142732200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:142729000-142733600	Weak transcription	A549	lung
9	chr4:142729200-142730800	Weak transcription	Osteobl	bone
10	chr4:142729200-142731200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:142729200-142731200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:142729200-142731400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:142729200-142732000	Weak transcription	HSMMtube	muscle
14	chr4:142729200-142735600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:142729400-142731200	Weak transcription	NHDF-Ad	bronchial
16	chr4:142729400-142731400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:142729600-142731200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:142729600-142731200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links