Variant report

Variant	rs3765952
Chromosome Location	chr1:119917573-119917574
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10494225	0.91[CEU][hapmap]
rs12032036	0.87[CHB][hapmap]
rs12403392	0.87[CHB][hapmap]
rs12411080	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs12411115	0.82[ASN][1000 genomes]
rs1361530	0.87[CHB][hapmap]
rs1417609	0.87[CHB][hapmap];0.92[CHD][hapmap]
rs1417610	0.87[CHB][hapmap];0.88[CHD][hapmap]
rs17023517	0.81[CHB][hapmap]
rs2211257	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2854961	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs3765948	0.84[ASN][1000 genomes]
rs3765956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3765957	0.87[CHB][hapmap]
rs41443445	0.87[CHB][hapmap]
rs4659003	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4659174	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs6691943	0.87[CHB][hapmap]
rs7514283	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv34089	chr1:119752112-120072961	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv2761649	chr1:119840645-119925936	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1004662	chr1:119847447-120154798	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3765952	RP5-871G17.5	cis	Thyroid	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119914800-119918200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:119915200-119918000	Enhancers	Fetal Intestine Large	intestine
3	chr1:119915400-119917600	Enhancers	HMEC	breast
4	chr1:119915400-119917800	Enhancers	Fetal Intestine Small	intestine
5	chr1:119915800-119917600	Bivalent Enhancer	Primary T cells from cord blood	blood
6	chr1:119916000-119917800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:119916600-119917600	Bivalent Enhancer	Hela-S3	cervix
8	chr1:119916800-119917800	Enhancers	GM12878-XiMat	blood
9	chr1:119917400-119917800	Enhancers	A549	lung
10	chr1:119917400-119919000	Enhancers	Liver	Liver

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

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