Variant report

Variant	rs12831519
Chromosome Location	chr12:106682917-106682918
allele	A/G
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	chr12:106681884..106684629-chr12:106690142..106692721,2	MCF-7	breast:
2	chr12:106640373..106642748-chr12:106682387..106685392,3	MCF-7	breast:
3	chr12:106638556..106642995-chr12:106679966..106686733,8	MCF-7	breast:
4	chr12:106682888..106685086-chr12:106695950..106698366,2	MCF-7	breast:
5	chr12:106680960..106683354-chr12:106688699..106690520,2	K562	blood:
6	chr12:106673784..106675625-chr12:106681211..106683347,2	MCF-7	breast:
7	chr12:106676469..106679734-chr12:106680347..106683277,4	MCF-7	breast:
8	chr12:106532573..106534349-chr12:106680398..106683180,2	MCF-7	breast:
9	chr12:106532442..106534765-chr12:106681065..106683519,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238609	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000258355	Chromatin interaction
ENSG00000166046	Chromatin interaction
ENSG00000074590	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11112920	1.00[CHB][hapmap]
rs12309973	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12814176	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12814523	1.00[ASN][1000 genomes]
rs12815560	1.00[ASN][1000 genomes]
rs17217810	0.93[YRI][hapmap]
rs17217845	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17218455	0.93[YRI][hapmap]
rs2279759	0.83[CEU][hapmap]
rs34762209	0.87[AMR][1000 genomes]
rs34826388	1.00[ASN][1000 genomes]
rs34855793	1.00[ASN][1000 genomes]
rs36010188	1.00[ASN][1000 genomes]
rs4964175	0.87[ASW][hapmap]
rs4964177	1.00[ASN][1000 genomes]
rs4964463	1.00[ASN][1000 genomes]
rs56234907	1.00[ASN][1000 genomes]
rs61941947	1.00[ASN][1000 genomes]
rs7977927	1.00[CHB][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	esv1794382	chr12:106679812-106699151	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12831519	C12orf23	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106677200-106683600	Enhancers	HepG2	liver
2	chr12:106678600-106688800	Weak transcription	Lung	lung
3	chr12:106680000-106695200	Weak transcription	Right Atrium	heart
4	chr12:106680400-106684600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:106680800-106683400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:106680800-106683400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:106680800-106683400	Enhancers	HMEC	breast
8	chr12:106681000-106683400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:106681200-106683400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:106681400-106683200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:106681400-106683200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:106681400-106683400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr12:106681400-106683600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:106681800-106683000	Enhancers	NH-A	brain
15	chr12:106681800-106683400	Enhancers	K562	blood
16	chr12:106682000-106683200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:106682000-106683200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:106682000-106683400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:106682000-106683400	Enhancers	NHDF-Ad	bronchial
20	chr12:106682000-106684600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:106682200-106683000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:106682200-106683000	Enhancers	Fetal Intestine Large	intestine
23	chr12:106682400-106683000	Flanking Active TSS	A549	lung
24	chr12:106682400-106683000	Enhancers	HUVEC	blood vessel
25	chr12:106682400-106683200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:106682400-106683200	Enhancers	Stomach Mucosa	stomach
27	chr12:106682400-106683400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:106682400-106683400	Enhancers	Osteobl	bone
29	chr12:106682400-106683800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:106682600-106683000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:106682600-106683000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:106682600-106683000	Enhancers	Duodenum Mucosa	Duodenum
33	chr12:106682600-106683000	Enhancers	HSMM	muscle
34	chr12:106682600-106683000	Enhancers	NHLF	lung
35	chr12:106682600-106683200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:106682600-106683200	Enhancers	Brain Angular Gyrus	brain
37	chr12:106682600-106683200	Enhancers	Brain Hippocampus Middle	brain
38	chr12:106682600-106683200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr12:106682600-106683200	Enhancers	HSMMtube	muscle
40	chr12:106682600-106683600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:106682600-106683800	Enhancers	Esophagus	oesophagus
42	chr12:106682800-106683200	Enhancers	Brain Cingulate Gyrus	brain
43	chr12:106682800-106683400	Enhancers	Hela-S3	cervix
44	chr12:106682800-106683400	Genic enhancers	NHEK	skin
45	chr12:106682800-106685200	Weak transcription	Fetal Intestine Small	intestine

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