Variant report

Variant	rs12130143
Chromosome Location	chr1:179754801-179754802
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10913889	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125387	1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125434	1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133344	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134289	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12723969	0.82[CEU][hapmap]
rs12756362	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs12756748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17370139	0.83[CEU][hapmap]
rs34233788	0.83[EUR][1000 genomes]
rs35698624	0.80[AMR][1000 genomes]
rs71630240	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009961	chr1:179714247-179790110	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1011407	chr1:179733193-179799430	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179737000-179756000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:179751400-179755800	Enhancers	Fetal Intestine Small	intestine
3	chr1:179752000-179755600	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:179752200-179755600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:179753000-179755000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr1:179753200-179758200	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:179753400-179755200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:179753600-179757000	Weak transcription	Fetal Intestine Large	intestine
9	chr1:179753800-179755000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:179754000-179758000	Enhancers	Brain Germinal Matrix	brain
11	chr1:179754400-179755000	Weak transcription	Fetal Stomach	stomach
12	chr1:179754600-179755400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:179754600-179755400	Weak transcription	Small Intestine	intestine
14	chr1:179754800-179757600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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

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