Variant report

Variant	rs12630032
Chromosome Location	chr3:119068589-119068590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119012829..119015556-chr3:119066344..119068613,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000031081	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10934492	0.92[CHB][hapmap]
rs12163543	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12163575	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12634505	0.86[ASN][1000 genomes]
rs12636459	0.92[CHB][hapmap];0.82[ASN][1000 genomes]
rs56138714	0.85[ASN][1000 genomes]
rs61261775	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119042800-119070600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:119042800-119072000	Weak transcription	Thymus	Thymus
3	chr3:119043000-119069000	Weak transcription	Primary T cells from cord blood	blood
4	chr3:119049200-119071200	Weak transcription	Aorta	Aorta
5	chr3:119050800-119075800	Weak transcription	Pancreas	Pancrea
6	chr3:119053200-119087200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:119053400-119087000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:119053600-119071400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:119056400-119071600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:119063000-119070600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr3:119063400-119068600	Weak transcription	GM12878-XiMat	blood
12	chr3:119064400-119073200	Enhancers	Adipose Nuclei	Adipose
13	chr3:119064800-119071200	Weak transcription	Spleen	Spleen
14	chr3:119065000-119070400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:119065000-119070600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:119065000-119071800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:119065200-119070600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:119065400-119068600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:119065800-119068600	Enhancers	Right Atrium	heart
20	chr3:119065800-119069600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:119066200-119069800	Weak transcription	Small Intestine	intestine
22	chr3:119066200-119071000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:119066200-119071600	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:119066600-119070200	Weak transcription	Psoas Muscle	Psoas
25	chr3:119066800-119069800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:119066800-119073200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr3:119067000-119069000	Weak transcription	Lung	lung
28	chr3:119067200-119069200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:119067200-119069200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:119067400-119069400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:119067400-119072000	Enhancers	Fetal Heart	heart
32	chr3:119067600-119069000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr3:119067600-119069400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr3:119067600-119072000	Enhancers	Fetal Stomach	stomach
35	chr3:119067800-119068600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:119067800-119069200	Enhancers	Brain Hippocampus Middle	brain
37	chr3:119067800-119069200	Enhancers	Fetal Lung	lung
38	chr3:119067800-119069600	Enhancers	HSMMtube	muscle
39	chr3:119067800-119072400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:119068000-119069200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:119068000-119069200	Enhancers	NH-A	brain
42	chr3:119068000-119069400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:119068000-119069400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:119068000-119070200	Enhancers	Fetal Muscle Leg	muscle
45	chr3:119068000-119072400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr3:119068000-119073000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:119068200-119068600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:119068200-119068600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr3:119068200-119068600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr3:119068200-119068800	Enhancers	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links