Variant report

Variant	rs71644398
Chromosome Location	chr1:113019780-113019781
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12727145	1.00[ASN][1000 genomes]
rs12729635	1.00[ASN][1000 genomes]
rs12737053	1.00[ASN][1000 genomes]
rs34731458	1.00[ASN][1000 genomes]
rs34961977	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34989396	1.00[ASN][1000 genomes]
rs35119735	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs351366	1.00[ASN][1000 genomes]
rs35735679	1.00[ASN][1000 genomes]
rs35947845	1.00[ASN][1000 genomes]
rs36087180	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers 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 miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113019000-113019800	ZNF genes & repeats	Spleen	Spleen
2	chr1:113019200-113019800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:113019200-113019800	ZNF genes & repeats	Aorta	Aorta
4	chr1:113019200-113019800	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr1:113019200-113019800	ZNF genes & repeats	Gastric	stomach
6	chr1:113019200-113019800	ZNF genes & repeats	Left Ventricle	heart
7	chr1:113019200-113019800	ZNF genes & repeats	Lung	lung
8	chr1:113019200-113020000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:113019200-113020000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:113019200-113020000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:113019200-113020000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:113019200-113020200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:113019400-113019800	ZNF genes & repeats	Esophagus	oesophagus
14	chr1:113019400-113020000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
15	chr1:113019600-113020000	ZNF genes & repeats	Osteobl	bone
16	chr1:113019600-113020200	Weak transcription	Rectal Mucosa Donor 31	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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