Variant report

Variant	rs4763723
Chromosome Location	chr12:11912896-11912897
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	chr12:11905328..11907966-chr12:11912733..11915677,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139083	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10772505	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs11054443	0.85[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs11615083	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12425912	0.84[ASN][1000 genomes]
rs1547393	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17210559	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1894331	0.81[CHD][hapmap]
rs2051524	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs2723829	0.84[ASW][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.80[MEX][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3782137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3825082	0.84[ASW][hapmap];0.82[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7310017	0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs928950	0.92[CEU][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]

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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv1053609	chr12:11898099-11933906	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4763723	KIAA1467	cis	cerebellum	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11893200-11915000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:11895400-11914400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:11900600-11915000	Weak transcription	NHEK	skin
4	chr12:11904000-11918000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:11904200-11913000	Strong transcription	Dnd41	blood
6	chr12:11905800-11918400	Weak transcription	Fetal Brain Male	brain
7	chr12:11906400-11918600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:11906800-11915000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:11906800-11915000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:11907000-11917200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:11907200-11914400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:11907600-11918200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:11907800-11915000	Weak transcription	HMEC	breast
14	chr12:11908000-11913000	Enhancers	Fetal Heart	heart
15	chr12:11908000-11918800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:11908200-11918800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:11908400-11913400	Genic enhancers	Primary hematopoietic stem cells	blood
18	chr12:11908600-11915000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:11908600-11931800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:11909200-11914600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:11909200-11915000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:11909200-11915800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:11909200-11919400	Weak transcription	Liver	Liver
24	chr12:11909400-11913200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:11909400-11914800	Weak transcription	HSMM	muscle
26	chr12:11909400-11915200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:11909400-11915400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:11909400-11915600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:11909400-11915800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:11909400-11916600	Weak transcription	NHDF-Ad	bronchial
31	chr12:11909600-11915000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:11909600-11915200	Weak transcription	Osteobl	bone
33	chr12:11909600-11932400	Genic enhancers	Fetal Thymus	thymus
34	chr12:11909800-11914800	Weak transcription	A549	lung
35	chr12:11909800-11919000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:11910600-11913000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:11910600-11913400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr12:11910600-11916800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr12:11910800-11913200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr12:11910800-11913400	Enhancers	Aorta	Aorta
41	chr12:11910800-11914400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:11911000-11913000	Enhancers	Primary B cells from peripheral blood	blood
43	chr12:11911000-11915000	Weak transcription	Colonic Mucosa	Colon
44	chr12:11911000-11915200	Weak transcription	Esophagus	oesophagus
45	chr12:11911200-11913000	Enhancers	Fetal Muscle Leg	muscle
46	chr12:11911200-11913200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:11911400-11913000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:11911400-11913000	Enhancers	Thymus	Thymus
49	chr12:11911400-11913400	Enhancers	HSMMtube	muscle
50	chr12:11911600-11915000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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