Variant report

Variant	rs12318540
Chromosome Location	chr12:106507085-106507086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106499591..106503536-chr12:106504416..106508585,6	MCF-7	breast:
2	chr12:106506182..106509109-chr12:106524613..106526452,2	MCF-7	breast:
3	chr12:106504477..106507243-chr12:106513286..106514940,2	MCF-7	breast:
4	chr12:106506758..106508828-chr12:106518372..106520246,3	MCF-7	breast:
5	chr12:106500371..106501923-chr12:106505629..106508157,2	MCF-7	breast:
6	chr12:106505826..106508557-chr12:106531919..106534995,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10492351	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112866	0.87[ASN][1000 genomes]
rs1896364	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3782692	0.93[ASN][1000 genomes]
rs55748925	0.87[ASN][1000 genomes]
rs55941206	0.92[EUR][1000 genomes]
rs56027035	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7138598	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485023	0.81[ASN][1000 genomes]
rs892270	0.82[JPT][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	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106493400-106512400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:106495600-106507200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr12:106498400-106507200	Weak transcription	Pancreas	Pancrea
4	chr12:106499600-106511400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:106499800-106507800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:106499800-106508400	Genic enhancers	HSMM	muscle
7	chr12:106500000-106507400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:106500000-106510000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:106500200-106507400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:106500200-106510200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:106500200-106514000	Enhancers	Liver	Liver
12	chr12:106500600-106507400	Enhancers	HepG2	liver
13	chr12:106500600-106508600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:106500600-106508600	Enhancers	Right Atrium	heart
15	chr12:106500800-106507600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:106500800-106510200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:106500800-106521800	Enhancers	Brain Angular Gyrus	brain
18	chr12:106501200-106516800	Enhancers	Right Ventricle	heart
19	chr12:106501400-106510400	Enhancers	Fetal Brain Female	brain
20	chr12:106502000-106507400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:106502400-106510000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr12:106502600-106509400	Weak transcription	Gastric	stomach
23	chr12:106502800-106507600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:106502800-106507600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:106503200-106508000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:106503600-106510800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:106504000-106508000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:106504200-106507800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:106504200-106524600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr12:106504400-106509000	Enhancers	HMEC	breast
31	chr12:106504600-106507200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:106504600-106509600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:106504800-106507200	Weak transcription	Colonic Mucosa	Colon
34	chr12:106504800-106529000	Enhancers	Left Ventricle	heart
35	chr12:106504800-106532400	Weak transcription	Spleen	Spleen
36	chr12:106505000-106507200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:106505000-106507400	Weak transcription	Fetal Intestine Large	intestine
38	chr12:106505000-106508400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:106505000-106509600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:106505400-106507200	Enhancers	HSMMtube	muscle
41	chr12:106505400-106509400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:106505600-106508000	Enhancers	Fetal Lung	lung
43	chr12:106505600-106508200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:106505800-106507200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr12:106505800-106508600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:106505800-106509000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:106505800-106509400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:106505800-106509600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:106505800-106509600	Enhancers	Placenta	Placenta
50	chr12:106505800-106509800	Enhancers	Brain Anterior Caudate	brain

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