Variant report

Variant	rs57537475
Chromosome Location	chr5:95900990-95900991
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12520714	0.93[ASN][1000 genomes]
rs17086313	0.93[ASN][1000 genomes]
rs2061277	0.87[ASN][1000 genomes]
rs2061278	0.87[ASN][1000 genomes]
rs2124885	0.93[ASN][1000 genomes]
rs2168627	0.91[ASN][1000 genomes]
rs261225	0.98[ASN][1000 genomes]
rs261240	0.90[ASN][1000 genomes]
rs4869145	0.82[ASN][1000 genomes]
rs4869294	0.91[ASN][1000 genomes]
rs56791881	0.93[ASN][1000 genomes]
rs6880222	0.89[ASN][1000 genomes]
rs72772007	0.93[ASN][1000 genomes]
rs73774308	0.91[ASN][1000 genomes]
rs8180398	0.91[ASN][1000 genomes]
rs8180437	0.91[ASN][1000 genomes]
rs8180490	0.91[ASN][1000 genomes]
rs9918149	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1026484	chr5:95759910-95961518	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95897800-95902600	Enhancers	HUVEC	blood vessel
2	chr5:95898200-95903200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:95898400-95901400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:95898600-95901800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:95898800-95901200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:95898800-95901200	Weak transcription	NHLF	lung
7	chr5:95898800-95901400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:95898800-95901400	Weak transcription	A549	lung
9	chr5:95898800-95901600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:95898800-95901600	Weak transcription	Hela-S3	cervix
11	chr5:95898800-95901800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:95899200-95901200	Weak transcription	NH-A	brain
13	chr5:95899600-95901200	Weak transcription	NHDF-Ad	bronchial
14	chr5:95899600-95902600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:95900000-95901000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:95900000-95901200	Weak transcription	HSMM	muscle
17	chr5:95900200-95903400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:95900600-95901000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:95900600-95901000	Weak transcription	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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