Variant report

Variant	rs12299115
Chromosome Location	chr12:62643341-62643342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62633500..62639125-chr12:62640023..62644977,7	K562	blood:
2	chr12:62639272..62644636-chr12:62647774..62654627,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198673	Chromatin interaction
ENSG00000135655	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11615916	1.00[CEU][hapmap]
rs17715440	0.85[CEU][hapmap]
rs7308137	1.00[CEU][hapmap]
rs7979000	0.83[CEU][hapmap]

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	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62638000-62650000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:62641800-62646200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:62641800-62647800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:62642000-62643400	Enhancers	Ovary	ovary
5	chr12:62642200-62643800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:62642200-62644200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr12:62642200-62645400	Enhancers	HMEC	breast
8	chr12:62642600-62643400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:62642600-62643400	Enhancers	Liver	Liver
10	chr12:62642600-62643400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr12:62642600-62643800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:62642600-62643800	Enhancers	Hela-S3	cervix
13	chr12:62642600-62644600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr12:62642600-62644800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:62642600-62644800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:62642600-62645400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:62642600-62645400	Enhancers	NHEK	skin
18	chr12:62642800-62643800	Enhancers	Primary hematopoietic stem cells	blood
19	chr12:62642800-62644200	Enhancers	Placenta	Placenta
20	chr12:62643000-62643400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:62643000-62643600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:62643200-62643600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:62643200-62643800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:62643200-62644200	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links