Variant report

Variant	rs2995771
Chromosome Location	chr1:112880170-112880171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:112343441..112344487-chr1:112879659..112880243,3	MCF-7	breast:
2	chr1:112427154..112427863-chr1:112879599..112880576,3	MCF-7	breast:
3	chr1:112840911..112841667-chr1:112879308..112880254,3	K562	blood:
4	chr1:112874778..112876946-chr1:112878267..112880781,2	K562	blood:
5	chr1:112840899..112841842-chr1:112879297..112880319,11	MCF-7	breast:
6	chr1:112840855..112841876-chr1:112879569..112880172,4	MCF-7	breast:
7	chr1:112332415..112333385-chr1:112879363..112880404,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1105182	0.97[AFR][1000 genomes]
rs1539561	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1891704	1.00[AMR][1000 genomes]
rs1936048	0.83[AFR][1000 genomes]
rs2253982	1.00[AMR][1000 genomes]
rs2488781	1.00[AMR][1000 genomes]
rs2492487	1.00[AMR][1000 genomes]
rs2995766	1.00[AFR][1000 genomes]
rs3005783	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv508526	chr1:112839396-112915215	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112879400-112880200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr1:112879600-112880200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:112879600-112880200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr1:112879600-112880200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:112879600-112880200	Enhancers	Esophagus	oesophagus
6	chr1:112879600-112880200	Enhancers	Placenta	Placenta
7	chr1:112879600-112880200	Bivalent Enhancer	GM12878-XiMat	blood
8	chr1:112879600-112880200	Bivalent/Poised TSS	Hela-S3	cervix
9	chr1:112879600-112880200	Flanking Active TSS	HMEC	breast
10	chr1:112879800-112880200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr1:112879800-112880200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr1:112879800-112880200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:112879800-112880200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:112879800-112880200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:112879800-112880200	Enhancers	Aorta	Aorta
16	chr1:112879800-112880200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:112879800-112880200	Active TSS	A549	lung
18	chr1:112879800-112880200	Enhancers	HSMMtube	muscle
19	chr1:112879800-112880200	Enhancers	NHEK	skin
20	chr1:112880000-112880200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:112880000-112880200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:112880000-112880200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:112880000-112880200	Enhancers	Pancreas	Pancrea
24	chr1:112880000-112884800	Weak transcription	Adipose Nuclei	Adipose
25	chr1:112880000-112889600	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links