Variant report

Variant	rs6430452
Chromosome Location	chr2:134548819-134548820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10184576	0.83[ASN][1000 genomes]
rs1110673	0.87[ASN][1000 genomes]
rs12472557	0.87[ASN][1000 genomes]
rs1348838	0.83[ASN][1000 genomes]
rs1374401	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1596918	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321298	0.81[ASN][1000 genomes]
rs2321301	0.87[ASN][1000 genomes]
rs4056124	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4423652	0.84[ASN][1000 genomes]
rs4505578	0.86[ASN][1000 genomes]
rs4954077	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6414015	0.83[ASN][1000 genomes]
rs6430457	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs66775623	0.83[ASN][1000 genomes]
rs6711922	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6730129	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6745752	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs744128	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749825	0.87[ASN][1000 genomes]
rs7570764	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7571025	0.88[ASN][1000 genomes]
rs7586665	0.87[ASN][1000 genomes]
rs7598780	0.88[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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134544000-134549400	Enhancers	Osteobl	bone
2	chr2:134544600-134549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:134544600-134549800	Enhancers	NHDF-Ad	bronchial
4	chr2:134544800-134549600	Enhancers	NHLF	lung
5	chr2:134545000-134557000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:134547200-134549800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:134547400-134549600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:134547600-134549600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:134547600-134549600	Enhancers	HUVEC	blood vessel
10	chr2:134547800-134549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:134547800-134549000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:134548000-134549600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:134548200-134549200	Enhancers	NH-A	brain
14	chr2:134548200-134549400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:134548200-134549400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:134548400-134549200	Enhancers	HSMMtube	muscle
17	chr2:134548400-134549600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:134548400-134549600	Enhancers	HSMM	muscle
19	chr2:134548600-134549200	Enhancers	Fetal Muscle Leg	muscle
20	chr2:134548800-134549000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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