Variant report

Variant	rs59235710
Chromosome Location	chr1:180119708-180119709
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11810556	0.89[ASN][1000 genomes]
rs12091685	0.80[ASN][1000 genomes]
rs12094391	0.81[ASN][1000 genomes]
rs17371566	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3753814	0.92[ASN][1000 genomes]
rs4604657	0.83[ASN][1000 genomes]
rs4652476	0.91[ASN][1000 genomes]
rs55953436	0.83[ASN][1000 genomes]
rs55971224	0.84[ASN][1000 genomes]
rs56279106	0.82[ASN][1000 genomes]
rs72710681	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7518534	0.93[ASN][1000 genomes]
rs7547954	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1012558	chr1:180027960-180217613	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv535218	chr1:180027960-180217613	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv533073	chr1:180031328-180217612	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180114600-180119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:180114800-180119800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:180114800-180120200	Weak transcription	Fetal Lung	lung
4	chr1:180118400-180123000	Weak transcription	Right Atrium	heart
5	chr1:180119400-180120000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:180119400-180121400	Enhancers	NHEK	skin
7	chr1:180119600-180120400	Enhancers	HUVEC	blood vessel
8	chr1:180119600-180120400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:180119600-180120800	Enhancers	Placenta	Placenta
10	chr1:180119600-180121200	Enhancers	HSMMtube	muscle
11	chr1:180119600-180121400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:180119600-180121400	Enhancers	Hela-S3	cervix
13	chr1:180119600-180122000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:180119600-180122800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:180119600-180122800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:180119600-180123000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:180119600-180123000	Enhancers	NHDF-Ad	bronchial
18	chr1:180119600-180123000	Enhancers	NHLF	lung

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

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