Variant report

Variant	rs17094382
Chromosome Location	chr12:44679279-44679280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10506243	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10506244	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10506245	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11182470	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11182477	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12300292	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1527315	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17094386	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094396	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094401	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094405	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094408	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094412	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094421	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094423	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094437	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094458	0.92[EUR][1000 genomes]
rs17094465	0.85[EUR][1000 genomes]
rs17094473	0.85[EUR][1000 genomes]
rs17094505	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17094509	0.85[EUR][1000 genomes]
rs17094532	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17094560	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17094577	1.00[CEU][hapmap]
rs1716605	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1726889	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1948424	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2080876	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3858725	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4307772	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4544066	1.00[EUR][1000 genomes]
rs4573751	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7296406	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73276261	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74084494	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7953537	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7953992	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7966220	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7975491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs840774	1.00[CEU][hapmap];0.85[EUR][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832393	chr12:44529406-44692414	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv686	chr12:44671240-44696910	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44654200-44679400	Weak transcription	Pancreas	Pancrea
2	chr12:44672800-44680600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:44676600-44680400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:44676600-44697800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:44678000-44680600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:44678800-44679600	Enhancers	Colon Smooth Muscle	Colon
7	chr12:44678800-44679600	Enhancers	Fetal Brain Female	brain
8	chr12:44679000-44679600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:44679000-44679600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:44679000-44679600	Enhancers	Fetal Brain Male	brain
11	chr12:44679000-44680600	Enhancers	HUVEC	blood vessel
12	chr12:44679000-44680800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:44679200-44679400	Enhancers	HSMMtube	muscle
14	chr12:44679200-44679600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:44679200-44679600	Enhancers	Esophagus	oesophagus
16	chr12:44679200-44679600	Enhancers	Gastric	stomach
17	chr12:44679200-44679600	Enhancers	Psoas Muscle	Psoas
18	chr12:44679200-44680800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr12:44679200-44682000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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