Variant report

Variant	rs1371047
Chromosome Location	chr2:145768581-145768582
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10496971	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11689317	0.83[AMR][1000 genomes]
rs12616953	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12621647	0.85[AMR][1000 genomes]
rs13001583	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13004410	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13009916	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13010262	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13010313	0.85[AMR][1000 genomes]
rs16824386	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1898732	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34948552	0.85[AMR][1000 genomes]
rs34985138	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4662413	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56014517	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56795645	0.82[AMR][1000 genomes]
rs67969609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:145765200-145770200	Weak transcription	Hela-S3	cervix
2	chr2:145765600-145769200	Weak transcription	Right Atrium	heart
3	chr2:145765600-145769400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:145765600-145769800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:145765600-145770000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:145765600-145770400	Weak transcription	Aorta	Aorta
7	chr2:145765800-145769200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:145765800-145769800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:145765800-145769800	Weak transcription	Fetal Lung	lung
10	chr2:145765800-145769800	Weak transcription	HSMMtube	muscle
11	chr2:145766000-145769600	Weak transcription	HSMM	muscle
12	chr2:145766000-145769800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:145766000-145769800	Weak transcription	NH-A	brain
14	chr2:145766000-145769800	Weak transcription	Osteobl	bone
15	chr2:145766000-145770000	Weak transcription	HMEC	breast
16	chr2:145766200-145769000	Weak transcription	HUVEC	blood vessel
17	chr2:145766200-145769400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:145766200-145770000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:145766200-145770000	Weak transcription	NHDF-Ad	bronchial
20	chr2:145768000-145772000	Enhancers	Fetal Heart	heart
21	chr2:145768400-145768800	Weak transcription	A549	lung
22	chr2:145768400-145771600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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