Variant report

Variant	rs2515729
Chromosome Location	chr12:122279333-122279334
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122277629..122280241-chr12:122306316..122307836,2	K562	blood:
2	chr12:122231441..122233928-chr12:122277608..122279379,2	K562	blood:
3	chr12:122276014..122279424-chr12:122324501..122328226,6	K562	blood:
4	chr12:122235011..122243917-chr12:122274636..122279415,16	K562	blood:
5	chr12:122277581..122279588-chr12:122359904..122362557,2	K562	blood:
6	chr12:122276172..122280016-chr12:122325268..122328286,4	MCF-7	breast:
7	chr12:122277992..122280217-chr12:122283383..122286165,2	MCF-7	breast:
8	chr12:122276049..122279588-chr12:122294411..122297948,4	MCF-7	breast:
9	chr12:122275909..122280625-chr12:122324321..122327791,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139725	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000158104	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000256950	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1975615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs2242259	0.85[JPT][hapmap]
rs2242260	0.85[JPT][hapmap]
rs3741593	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv911	chr12:122234524-122279425	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122278200-122281000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:122278200-122281000	Strong transcription	Liver	Liver
3	chr12:122278200-122281000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:122278200-122281200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:122278200-122281200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:122278200-122281200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:122278200-122281800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:122278200-122294000	Weak transcription	Spleen	Spleen
9	chr12:122278200-122296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:122278400-122279400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:122278400-122281000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:122278400-122281200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:122278400-122281200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:122278400-122281200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:122278400-122281400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:122278400-122283600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:122278400-122293000	Weak transcription	GM12878-XiMat	blood
18	chr12:122278400-122295400	Weak transcription	Fetal Intestine Small	intestine
19	chr12:122278600-122281000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:122278600-122281000	Weak transcription	A549	lung
21	chr12:122278600-122281200	Weak transcription	Placenta	Placenta
22	chr12:122278600-122283600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:122278800-122280400	Weak transcription	HepG2	liver
24	chr12:122278800-122281200	Enhancers	K562	blood
25	chr12:122278800-122283000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:122278800-122283400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:122278800-122283600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:122278800-122283800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:122278800-122287200	Weak transcription	Primary B cells from cord blood	blood
30	chr12:122279000-122279600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:122279200-122279600	Enhancers	Brain Cingulate Gyrus	brain
32	chr12:122279200-122279600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr12:122279200-122279600	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links