Variant report

Variant	rs7322379
Chromosome Location	chr13:37888225-37888226
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11619544	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1324043	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1324044	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324045	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324046	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055305	0.99[ASN][1000 genomes]
rs17826073	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1815294	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61947174	0.99[ASN][1000 genomes]
rs61947175	1.00[ASN][1000 genomes]
rs765412	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942361	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9576245	1.00[ASN][1000 genomes]
rs9576246	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv899994	chr13:37816086-38087145	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37886000-37888600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:37886800-37888400	Enhancers	HMEC	breast
3	chr13:37887000-37888400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:37887000-37888400	Enhancers	NHDF-Ad	bronchial
5	chr13:37887000-37888400	Enhancers	Osteobl	bone
6	chr13:37887000-37888600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:37887000-37888600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:37887000-37888600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:37887000-37888600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:37887200-37888400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:37887200-37888400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:37887200-37888400	Enhancers	NHLF	lung
13	chr13:37887200-37888600	Enhancers	Fetal Muscle Leg	muscle
14	chr13:37887400-37891000	Weak transcription	Esophagus	oesophagus
15	chr13:37888200-37888600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:37888200-37888600	Enhancers	Aorta	Aorta
17	chr13:37888200-37888600	ZNF genes & repeats	NHEK	skin

Quick Search:

Input of quick search could be:

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

what's new

Quick links