Variant report

Variant	rs4931049
Chromosome Location	chr12:33058941-33058942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2045171	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2045173	0.81[AMR][1000 genomes]
rs4420362	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4479073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977818	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7979825	0.95[AMR][1000 genomes];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	nsv1035900	chr12:33010643-33079667	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541458	chr12:33010643-33079667	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33056000-33059000	Weak transcription	GM12878-XiMat	blood
2	chr12:33056000-33060400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:33057000-33059400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:33058000-33061800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:33058000-33063400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr12:33058200-33059000	Enhancers	Fetal Intestine Large	intestine
7	chr12:33058200-33063600	Enhancers	Duodenum Mucosa	Duodenum
8	chr12:33058400-33059200	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr12:33058600-33060800	Enhancers	Fetal Intestine Small	intestine
10	chr12:33058800-33060000	Enhancers	Liver	Liver
11	chr12:33058800-33060400	Enhancers	HepG2	liver
12	chr12:33058800-33061000	Enhancers	Stomach Mucosa	stomach
13	chr12:33058800-33061000	Enhancers	Hela-S3	cervix

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