Variant report

Variant	rs1449317
Chromosome Location	chr3:100761838-100761839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2595881	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2595882	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2713756	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4928106	0.83[EUR][1000 genomes];0.95[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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2757881	chr3:100613387-100776497	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759163	chr3:100613387-100776497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr3:100755600-100762800	Enhancers	NHDF-Ad	bronchial
2	chr3:100758200-100763200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:100760200-100762800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:100760800-100762000	Weak transcription	HSMM	muscle
5	chr3:100761000-100762400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:100761000-100762600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:100761000-100762600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:100761000-100762600	Enhancers	HMEC	breast
9	chr3:100761000-100762600	Enhancers	NHEK	skin
10	chr3:100761000-100762800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:100761000-100762800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:100761000-100762800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:100761200-100762600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:100761200-100763000	Enhancers	Osteobl	bone
15	chr3:100761400-100762400	Enhancers	NH-A	brain
16	chr3:100761600-100762600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:100761800-100762400	Enhancers	NHLF	lung

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