Variant report

Variant	rs1532586
Chromosome Location	chr12:106700584-106700585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:106695130-106701174	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106695562..106697778-chr12:106698885..106700984,2	K562	blood:
2	chr12:106699658..106703217-chr12:106715464..106718828,3	K562	blood:
3	chr12:106640546..106642318-chr12:106700436..106703373,2	MCF-7	breast:
4	chr12:106700481..106701223-chr12:106710836..106711809,2	K562	blood:
5	chr12:106700302..106702349-chr12:106702837..106704889,2	K562	blood:
6	chr12:106693434..106696954-chr12:106697519..106701215,4	MCF-7	breast:
7	chr12:106699381..106702338-chr12:106750472..106752773,2	MCF-7	breast:
8	chr12:106699658..106701808-chr12:106715464..106717408,2	K562	blood:

No data

Variant related genes	Relation type
CKAP4	TF binding region
ENSG00000013503	Chromatin interaction
ENSG00000258355	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000166046	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10778462	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.96[ASN][1000 genomes]
rs10778463	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10861573	0.98[ASN][1000 genomes]
rs11831752	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1392176	0.96[ASN][1000 genomes]
rs2243506	0.83[GIH][hapmap];1.00[LWK][hapmap]
rs2250262	1.00[LWK][hapmap]
rs2250441	1.00[LWK][hapmap];0.84[MKK][hapmap]
rs2252685	0.83[GIH][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap]
rs2253838	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap]
rs4964460	0.80[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6539261	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];0.98[ASN][1000 genomes]
rs6539262	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6539263	0.96[ASN][1000 genomes]
rs6539264	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.98[ASN][1000 genomes]
rs7296927	0.94[ASN][1000 genomes]
rs7297359	0.94[ASN][1000 genomes]
rs7298576	0.93[ASN][1000 genomes]
rs7957421	0.96[ASN][1000 genomes]
rs7965175	0.98[ASN][1000 genomes]
rs7965616	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106697200-106702600	Enhancers	Fetal Heart	heart
2	chr12:106697600-106700600	Weak transcription	A549	lung
3	chr12:106697800-106700600	Enhancers	Stomach Mucosa	stomach
4	chr12:106697800-106701200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:106697800-106702800	Weak transcription	NHEK	skin
6	chr12:106697800-106703400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:106697800-106703600	Enhancers	Fetal Intestine Large	intestine
8	chr12:106698000-106702200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:106698000-106702200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr12:106698000-106702600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:106698000-106702600	Weak transcription	HSMM	muscle
12	chr12:106698000-106703000	Weak transcription	NHLF	lung
13	chr12:106698000-106704000	Weak transcription	GM12878-XiMat	blood
14	chr12:106698000-106705600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:106698000-106708400	Weak transcription	Small Intestine	intestine
16	chr12:106698000-106709000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:106698200-106700600	Weak transcription	Fetal Intestine Small	intestine
18	chr12:106698200-106701000	Enhancers	Primary hematopoietic stem cells	blood
19	chr12:106698200-106701600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:106698200-106701800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:106698200-106702600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:106698200-106702600	Weak transcription	HMEC	breast
23	chr12:106698200-106702800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:106698200-106702800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:106698200-106702800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:106698200-106702800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:106698200-106702800	Weak transcription	Spleen	Spleen
28	chr12:106698200-106703000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:106698200-106703200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:106698200-106703200	Weak transcription	Osteobl	bone
31	chr12:106698200-106703800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:106698200-106703800	Weak transcription	Fetal Stomach	stomach
33	chr12:106698200-106704200	Enhancers	Colon Smooth Muscle	Colon
34	chr12:106698200-106706000	Weak transcription	Placenta	Placenta
35	chr12:106698200-106708000	Weak transcription	Liver	Liver
36	chr12:106698400-106701000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:106698400-106702200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr12:106698400-106702400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:106698400-106703200	Weak transcription	NHDF-Ad	bronchial
40	chr12:106698400-106708000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:106698400-106709800	Weak transcription	Fetal Lung	lung
42	chr12:106698600-106701000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:106698600-106701000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:106698600-106701600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:106698600-106702600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:106698600-106709600	Weak transcription	Brain Germinal Matrix	brain
47	chr12:106698800-106700600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:106698800-106701000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:106698800-106702000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:106698800-106702000	Weak transcription	HSMMtube	muscle

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