Variant report

Variant	rs1994480
Chromosome Location	chr3:157505518-157505519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10222405	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10446283	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10446335	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10936108	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11709138	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11712832	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552486	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552487	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1685679	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1685680	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1872981	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1979577	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979578	0.98[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2054862	0.98[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2054863	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054864	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3045100	0.83[ASN][1000 genomes]
rs3845979	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7630713	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs792738	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs792739	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs792740	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs807201	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs809395	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs901820	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9809803	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9816230	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833772	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9836369	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9837419	0.95[ASN][1000 genomes]
rs9847213	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9857956	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9867271	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9876088	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9882048	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv592121	chr3:157437068-157593470	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv997770	chr3:157441619-157595315	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	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	chr3:157502200-157505800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:157502200-157508200	Enhancers	HMEC	breast
3	chr3:157502400-157505600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:157502600-157508000	Enhancers	NHEK	skin
5	chr3:157504400-157505600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr3:157504800-157507800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:157504800-157510800	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:157504800-157512400	Weak transcription	HSMMtube	muscle
9	chr3:157505000-157505800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr3:157505000-157507000	Weak transcription	NH-A	brain
11	chr3:157505000-157512400	Weak transcription	A549	lung
12	chr3:157505200-157506600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:157505200-157507600	Weak transcription	Aorta	Aorta
14	chr3:157505200-157508600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:157505200-157511600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:157505200-157511800	Weak transcription	Ovary	ovary
17	chr3:157505400-157508000	Weak transcription	NHDF-Ad	bronchial
18	chr3:157505400-157511000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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