Variant report

Variant	rs2450154
Chromosome Location	chr12:104439113-104439114
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104437965..104440233-chr12:104457193..104459611,2	MCF-7	breast:
2	chr12:104438711..104441073-chr12:104451682..104453689,2	K562	blood:
3	chr12:104438680..104440536-chr12:104458293..104460022,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111727	Chromatin interaction
ENSG00000120820	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10219726	1.00[CEU][hapmap]
rs2700500	1.00[CEU][hapmap]
rs4438115	1.00[CEU][hapmap]

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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104408800-104442200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:104435000-104442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:104435800-104441600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:104436800-104440200	Weak transcription	Aorta	Aorta
5	chr12:104437600-104442000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:104437800-104439600	Enhancers	Fetal Muscle Leg	muscle
7	chr12:104438000-104440600	Weak transcription	Fetal Brain Female	brain
8	chr12:104438400-104441800	Enhancers	Colon Smooth Muscle	Colon
9	chr12:104438800-104439200	Enhancers	Fetal Muscle Trunk	muscle
10	chr12:104438800-104439400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:104438800-104439400	Enhancers	Ovary	ovary
12	chr12:104438800-104439600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:104438800-104439600	Enhancers	HMEC	breast
14	chr12:104438800-104439600	Enhancers	HSMMtube	muscle
15	chr12:104438800-104440400	Enhancers	Rectal Smooth Muscle	rectum
16	chr12:104438800-104440600	Enhancers	Fetal Heart	heart
17	chr12:104438800-104440800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr12:104439000-104439200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:104439000-104439200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:104439000-104439200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr12:104439000-104439200	Enhancers	A549	lung
22	chr12:104439000-104439400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:104439000-104439400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:104439000-104439400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:104439000-104439400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:104439000-104439400	Enhancers	Adipose Nuclei	Adipose
27	chr12:104439000-104439400	Enhancers	Fetal Intestine Large	intestine
28	chr12:104439000-104439400	Enhancers	Left Ventricle	heart
29	chr12:104439000-104439400	Enhancers	Lung	lung
30	chr12:104439000-104439400	Enhancers	Right Atrium	heart
31	chr12:104439000-104439400	Enhancers	Right Ventricle	heart
32	chr12:104439000-104439400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr12:104439000-104439400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr12:104439000-104439400	Enhancers	GM12878-XiMat	blood
35	chr12:104439000-104439600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:104439000-104439600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:104439000-104439600	Enhancers	Fetal Stomach	stomach
38	chr12:104439000-104439600	Enhancers	Psoas Muscle	Psoas
39	chr12:104439000-104440200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:104439000-104440400	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links