Variant report

Variant	rs206848
Chromosome Location	chr2:31612719-31612720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr2:31612652-31614109	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
XDH	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs185925	0.82[ASN][1000 genomes]
rs206846	0.81[ASN][1000 genomes]
rs206849	0.82[ASN][1000 genomes]
rs206854	0.81[ASN][1000 genomes]
rs4952239	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv456030	chr2:31598823-31820256	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv456041	chr2:31598823-31820256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv581269	chr2:31598823-31820256	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv998853	chr2:31601455-31858961	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1005565	chr2:31603134-31868877	Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:31565200-31633000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:31574600-31636600	Weak transcription	Colonic Mucosa	Colon
4	chr2:31586000-31613000	Weak transcription	Small Intestine	intestine
5	chr2:31598400-31639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:31599600-31636600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:31602200-31613400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr2:31602800-31614200	Strong transcription	Liver	Liver
9	chr2:31607800-31614400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:31609400-31613200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:31609400-31621200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:31609400-31623800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:31610200-31613200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:31611200-31614000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:31611400-31613200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:31611800-31614400	Enhancers	HMEC	breast
17	chr2:31611800-31624000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:31612000-31618000	Weak transcription	Fetal Intestine Large	intestine
19	chr2:31612200-31615000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:31612400-31618000	Weak transcription	Fetal Intestine Small	intestine
21	chr2:31612600-31613000	Enhancers	NHEK	skin

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