Variant report

Variant	rs12306037
Chromosome Location	chr12:4937926-4937927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11063356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296806	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12321952	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17177303	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs17783823	0.83[ASN][1000 genomes]
rs17783925	0.92[ASN][1000 genomes]
rs35250434	0.99[ASN][1000 genomes]
rs41276712	0.85[ASN][1000 genomes]
rs56748976	0.86[ASN][1000 genomes]
rs56893870	0.86[ASN][1000 genomes]
rs57928290	0.92[ASN][1000 genomes]
rs57945693	0.92[ASN][1000 genomes]
rs60191275	0.92[ASN][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	nsv520570	chr12:4929787-4954591	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1047238	chr12:4929787-4955435	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region lncRNA	1 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	chr12:4926400-4939000	Weak transcription	Spleen	Spleen
2	chr12:4927800-4938800	Weak transcription	Brain Germinal Matrix	brain
3	chr12:4929000-4939200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:4929200-4966600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:4929400-4966600	Weak transcription	Brain Angular Gyrus	brain
6	chr12:4930600-4938800	Weak transcription	Fetal Stomach	stomach
7	chr12:4930800-4942400	Weak transcription	Fetal Brain Male	brain
8	chr12:4933200-4938000	Enhancers	Primary hematopoietic stem cells	blood
9	chr12:4933200-4938400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:4933200-4938400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:4933200-4938400	Enhancers	Thymus	Thymus
12	chr12:4933200-4938600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:4933400-4938200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:4933600-4938400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:4934000-4939000	Enhancers	Primary T cells from cord blood	blood
16	chr12:4934000-4940000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:4934000-4942400	Weak transcription	HSMM	muscle
18	chr12:4934200-4938000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:4934200-4939000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:4934200-4939800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:4934400-4938200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:4935800-4938400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:4935800-4965000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:4937000-4938400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:4937000-4939600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr12:4937200-4938800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:4937400-4940200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr12:4937400-4940400	Flanking Active TSS	Dnd41	blood
29	chr12:4937600-4939400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr12:4937600-4939400	Flanking Active TSS	GM12878-XiMat	blood
31	chr12:4937600-4939800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr12:4937600-4940200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:4937600-4940200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:4937800-4938000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr12:4937800-4938200	Enhancers	Fetal Brain Female	brain
36	chr12:4937800-4939200	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr12:4937800-4939200	Flanking Active TSS	Fetal Thymus	thymus
38	chr12:4937800-4939800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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