Variant report

Variant	rs2147599
Chromosome Location	chr1:113790448-113790449
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113784457..113787265-chr1:113788650..113790745,2	MCF-7	breast:
2	chr1:113790127..113791815-chr1:113793407..113795329,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11102605	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12138560	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12146020	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12730687	0.84[ASN][1000 genomes]
rs1886503	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537782	1.00[CHB][hapmap]
rs773618	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh 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	65 gene(s)	inside rSNPs	diseases
2	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113784000-113790800	Enhancers	Fetal Intestine Small	intestine
2	chr1:113786600-113795200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:113787000-113796400	Enhancers	Pancreas	Pancrea
4	chr1:113788200-113791200	Enhancers	Esophagus	oesophagus
5	chr1:113788600-113791600	Enhancers	Stomach Mucosa	stomach
6	chr1:113789200-113791200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr1:113789200-113791600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:113789400-113791800	Weak transcription	K562	blood
9	chr1:113789600-113791400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr1:113789800-113790600	Enhancers	Fetal Intestine Large	intestine
11	chr1:113789800-113791200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:113789800-113791200	Enhancers	Colonic Mucosa	Colon
13	chr1:113789800-113791400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:113790000-113790800	Enhancers	Placenta	Placenta
15	chr1:113790000-113791200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:113790000-113791400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:113790000-113791400	Enhancers	HMEC	breast
18	chr1:113790200-113790600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:113790200-113790600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:113790200-113791400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:113790400-113790800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:113790400-113791000	Flanking Active TSS	NHEK	skin
23	chr1:113790400-113795000	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links