Variant report

Variant	rs696659
Chromosome Location	chr12:64571447-64571448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64569573..64573901-chr12:64574064..64577068,4	K562	blood:
2	chr12:64564304..64566773-chr12:64570258..64571875,2	MCF-7	breast:
3	chr12:64569573..64571749-chr12:64574064..64576693,2	K562	blood:
4	chr12:64570311..64573993-chr12:64574949..64576948,3	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10459258	1.00[AMR][1000 genomes]
rs10459259	1.00[AMR][1000 genomes]
rs10735920	1.00[AMR][1000 genomes]
rs10735921	1.00[AMR][1000 genomes]
rs10735922	1.00[AMR][1000 genomes]
rs10878133	1.00[AMR][1000 genomes]
rs10878145	1.00[AMR][1000 genomes]
rs1162970	1.00[AMR][1000 genomes]
rs11830260	1.00[AMR][1000 genomes]
rs11835078	1.00[AMR][1000 genomes]
rs1436361	1.00[AMR][1000 genomes]
rs1469862	1.00[AMR][1000 genomes]
rs1657051	1.00[AMR][1000 genomes]
rs1708200	1.00[AMR][1000 genomes]
rs1865796	1.00[AMR][1000 genomes]
rs1898221	1.00[AMR][1000 genomes]
rs2082951	1.00[AMR][1000 genomes]
rs2335390	1.00[LWK][hapmap];1.00[AMR][1000 genomes]
rs2453509	1.00[AMR][1000 genomes]
rs2575290	1.00[AMR][1000 genomes]
rs2575294	1.00[AMR][1000 genomes]
rs35744300	1.00[AMR][1000 genomes]
rs4237925	1.00[LWK][hapmap];1.00[AMR][1000 genomes]
rs4522269	1.00[AMR][1000 genomes]
rs4572232	1.00[AMR][1000 genomes]
rs4763153	1.00[AMR][1000 genomes]
rs4763156	1.00[AMR][1000 genomes]
rs6421211	1.00[AMR][1000 genomes]
rs6581542	1.00[AMR][1000 genomes]
rs696658	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs699629	1.00[AMR][1000 genomes]
rs699630	1.00[AMR][1000 genomes]
rs699631	1.00[AMR][1000 genomes]
rs699632	1.00[AMR][1000 genomes]
rs699635	1.00[AMR][1000 genomes]
rs699636	1.00[AMR][1000 genomes]
rs699637	0.88[LWK][hapmap];1.00[AMR][1000 genomes]
rs699638	1.00[AMR][1000 genomes]
rs7488560	1.00[LWK][hapmap];1.00[AMR][1000 genomes]
rs789723	1.00[AMR][1000 genomes]
rs789726	1.00[AMR][1000 genomes]
rs789727	1.00[AMR][1000 genomes]
rs789728	1.00[AMR][1000 genomes]
rs789730	1.00[AMR][1000 genomes]
rs789738	1.00[AMR][1000 genomes]
rs789742	1.00[AMR][1000 genomes]
rs789747	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs790013	1.00[AMR][1000 genomes]
rs790014	1.00[AMR][1000 genomes]
rs790017	1.00[AMR][1000 genomes]
rs7955105	1.00[LWK][hapmap];1.00[AMR][1000 genomes]
rs7976524	1.00[LWK][hapmap];1.00[AMR][1000 genomes]
rs809322	1.00[AMR][1000 genomes]
rs813156	1.00[AMR][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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64563600-64574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:64565800-64575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:64566000-64574800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:64566600-64571600	Weak transcription	A549	lung
5	chr12:64567200-64571600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:64567800-64573800	Weak transcription	Hela-S3	cervix
7	chr12:64567800-64585600	Weak transcription	Fetal Intestine Small	intestine
8	chr12:64568600-64574400	Weak transcription	Psoas Muscle	Psoas
9	chr12:64568600-64574800	Enhancers	NHDF-Ad	bronchial
10	chr12:64569600-64574200	Weak transcription	Adipose Nuclei	Adipose
11	chr12:64569600-64574400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:64569600-64574800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:64569600-64575200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:64569800-64574400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:64569800-64575200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:64569800-64575200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:64569800-64575200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:64570200-64573000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:64570200-64578400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:64570400-64571800	Enhancers	Spleen	Spleen
21	chr12:64570400-64573200	Enhancers	HUVEC	blood vessel
22	chr12:64570600-64572800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:64570600-64575000	Enhancers	Osteobl	bone
24	chr12:64570600-64576200	Enhancers	NHLF	lung
25	chr12:64570800-64571800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:64570800-64572600	Enhancers	HSMMtube	muscle
27	chr12:64570800-64573400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:64570800-64574800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:64570800-64575800	Enhancers	NH-A	brain
30	chr12:64571000-64571800	Enhancers	Fetal Brain Male	brain
31	chr12:64571000-64572600	Enhancers	HSMM	muscle
32	chr12:64571000-64573200	Enhancers	HMEC	breast
33	chr12:64571000-64573400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:64571200-64572800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:64571200-64574400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:64571400-64573200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:64571400-64573600	Enhancers	NHEK	skin
38	chr12:64571400-64575800	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links