Variant report

Variant	rs16829441
Chromosome Location	chr2:134547600-134547601
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:28)

rs_ID	r²[population]
rs10496712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374400	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1374402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446736	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1446750	0.81[ASN][1000 genomes]
rs1446751	0.82[ASN][1000 genomes]
rs1446753	0.84[ASN][1000 genomes]
rs1596916	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1596917	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1596919	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16829241	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16829308	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16829326	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829360	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16829478	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1867898	0.84[ASN][1000 genomes]
rs2197605	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2874486	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2874496	0.84[ASN][1000 genomes]
rs4056125	0.88[ASN][1000 genomes]
rs4101466	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4954078	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57830740	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430455	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6759873	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843293	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs731972	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs744129	0.87[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	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134538200-134547600	Weak transcription	Fetal Heart	heart
2	chr2:134542800-134547600	Weak transcription	HUVEC	blood vessel
3	chr2:134544000-134549400	Enhancers	Osteobl	bone
4	chr2:134544600-134549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:134544600-134549800	Enhancers	NHDF-Ad	bronchial
6	chr2:134544800-134549600	Enhancers	NHLF	lung
7	chr2:134545000-134557000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:134546200-134548200	Weak transcription	NH-A	brain
9	chr2:134546200-134548400	Weak transcription	HSMM	muscle
10	chr2:134546400-134548800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:134546600-134548000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:134546800-134548200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:134547200-134547600	Enhancers	HepG2	liver
14	chr2:134547200-134548000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:134547200-134549800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:134547400-134547600	Enhancers	Fetal Muscle Leg	muscle
17	chr2:134547400-134547800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:134547400-134549600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:134547600-134547800	Enhancers	Fetal Heart	heart
20	chr2:134547600-134548600	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:134547600-134549600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:134547600-134549600	Enhancers	HUVEC	blood vessel

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