Variant report

Variant	rs4931652
Chromosome Location	chr12:32937178-32937179
allele	C/T
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:17)

rs_ID	r²[population]
rs10743803	0.85[ASN][1000 genomes]
rs10844348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844364	0.88[ASN][1000 genomes]
rs11052256	0.88[ASN][1000 genomes]
rs11052259	0.88[ASN][1000 genomes]
rs11052262	0.81[ASN][1000 genomes]
rs1114701	0.86[ASN][1000 genomes]
rs12821727	0.85[ASN][1000 genomes]
rs1840396	0.85[ASN][1000 genomes]
rs1902140	0.81[ASN][1000 genomes]
rs2124152	0.81[ASN][1000 genomes]
rs2389108	0.81[ASN][1000 genomes]
rs2892685	0.81[ASN][1000 genomes]
rs4272862	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7296570	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7314621	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7975824	0.88[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	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv532334	chr12:32884789-33034791	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1851844	chr12:32929596-32953032	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32925000-32938600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:32929400-32937200	Weak transcription	NHEK	skin
3	chr12:32929400-32942200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:32929600-32941600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:32929800-32941200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:32929800-32941600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:32931400-32942200	Weak transcription	Left Ventricle	heart
8	chr12:32933200-32944800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:32934000-32944000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:32934200-32945200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:32936000-32937200	Bivalent Enhancer	Fetal Lung	lung
12	chr12:32936000-32938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:32936200-32948800	Weak transcription	Fetal Stomach	stomach
14	chr12:32936400-32947000	Weak transcription	Fetal Heart	heart
15	chr12:32937000-32938400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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