Variant report

Variant	rs71644748
Chromosome Location	chr1:223857201-223857202
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs34116332	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34186371	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34994484	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35022001	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35036666	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35407561	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35497806	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35536538	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36104175	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71644745	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73119729	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv873211	chr1:223707647-223867631	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh 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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223853800-223858400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:223855400-223859600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:223855800-223857400	Weak transcription	NHDF-Ad	bronchial
4	chr1:223855800-223865800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:223856000-223858200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:223856800-223858200	Weak transcription	HMEC	breast
7	chr1:223856800-223862200	Weak transcription	Pancreas	Pancrea
8	chr1:223857000-223858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:223857000-223858200	Weak transcription	Stomach Mucosa	stomach
10	chr1:223857000-223858800	Weak transcription	Colonic Mucosa	Colon

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

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