Variant report

Variant	rs13007471
Chromosome Location	chr2:172129015-172129016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172128253..172130254-chr2:172289100..172291873,2	MCF-7	breast:
2	chr2:172126634..172129658-chr2:172132451..172134211,3	MCF-7	breast:
3	chr2:172015584..172019101-chr2:172128501..172131090,3	MCF-7	breast:
4	chr2:172123232..172126602-chr2:172127090..172129825,3	K562	blood:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10490605	0.94[ASN][1000 genomes]
rs10754977	0.98[ASN][1000 genomes]
rs10803858	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10803859	0.94[ASN][1000 genomes]
rs10930464	0.98[ASN][1000 genomes]
rs11903215	0.94[ASN][1000 genomes]
rs12474103	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34931272	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4584997	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717184	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6727785	0.94[ASN][1000 genomes]
rs6743965	0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172127400-172129800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172127600-172129200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:172127600-172130000	Enhancers	HMEC	breast
4	chr2:172127600-172130400	Enhancers	Colon Smooth Muscle	Colon
5	chr2:172127800-172129200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:172127800-172129200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:172127800-172129200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:172127800-172129200	Flanking Active TSS	A549	lung
9	chr2:172127800-172129800	Enhancers	Hela-S3	cervix
10	chr2:172127800-172134000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:172128000-172129200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:172128000-172129200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:172128000-172129200	Enhancers	Fetal Stomach	stomach
14	chr2:172128000-172129200	Enhancers	Osteobl	bone
15	chr2:172128000-172130000	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:172128400-172129200	Enhancers	Placenta	Placenta
17	chr2:172128600-172129400	Enhancers	Pancreas	Pancrea
18	chr2:172128600-172134200	Weak transcription	HSMMtube	muscle
19	chr2:172128800-172129200	Flanking Active TSS	NHEK	skin
20	chr2:172128800-172129800	Weak transcription	Fetal Brain Female	brain
21	chr2:172129000-172129200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:172129000-172138800	Weak transcription	Rectal Smooth Muscle	rectum

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