Variant report

Variant	rs10849149
Chromosome Location	chr12:4934589-4934590
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10849145	0.85[ASN][1000 genomes]
rs10849146	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849147	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063351	1.00[ASN][1000 genomes]
rs11063358	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11063359	0.81[AMR][1000 genomes]
rs12099448	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12366826	0.85[ASN][1000 genomes]
rs17702562	0.81[AMR][1000 genomes]
rs61907137	1.00[ASN][1000 genomes]
rs61907139	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61907144	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61908768	0.83[AMR][1000 genomes]
rs6489569	0.81[AMR][1000 genomes]
rs6489570	0.81[AMR][1000 genomes]
rs6489571	0.81[AMR][1000 genomes]
rs6489572	0.81[AMR][1000 genomes]
rs6489573	0.81[AMR][1000 genomes]
rs7296238	1.00[ASN][1000 genomes]
rs7297694	1.00[ASN][1000 genomes]
rs7310191	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7311419	1.00[ASN][1000 genomes]
rs7313593	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7963542	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4925600-4934600	Enhancers	Primary B cells from cord blood	blood
2	chr12:4926400-4939000	Weak transcription	Spleen	Spleen
3	chr12:4927400-4935400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:4927800-4938800	Weak transcription	Brain Germinal Matrix	brain
5	chr12:4928000-4935800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:4929000-4934800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:4929000-4939200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:4929200-4966600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:4929400-4937800	Weak transcription	Fetal Brain Female	brain
10	chr12:4929400-4966600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:4930400-4935600	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:4930600-4934800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:4930600-4938800	Weak transcription	Fetal Stomach	stomach
14	chr12:4930800-4942400	Weak transcription	Fetal Brain Male	brain
15	chr12:4931000-4937600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:4933000-4935800	Enhancers	HUVEC	blood vessel
17	chr12:4933000-4937800	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:4933000-4937800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:4933200-4936800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:4933200-4937600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:4933200-4938000	Enhancers	Primary hematopoietic stem cells	blood
22	chr12:4933200-4938400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:4933200-4938400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:4933200-4938400	Enhancers	Thymus	Thymus
25	chr12:4933200-4938600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:4933400-4938200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:4933600-4934600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:4933600-4934600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr12:4933600-4935400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:4933600-4938400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:4933800-4937800	Enhancers	Fetal Thymus	thymus
32	chr12:4934000-4935000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:4934000-4936200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr12:4934000-4939000	Enhancers	Primary T cells from cord blood	blood
35	chr12:4934000-4940000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr12:4934000-4942400	Weak transcription	HSMM	muscle
37	chr12:4934200-4935000	Enhancers	GM12878-XiMat	blood
38	chr12:4934200-4936600	Enhancers	Dnd41	blood
39	chr12:4934200-4938000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:4934200-4939000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:4934200-4939800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:4934400-4935400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:4934400-4935800	Enhancers	NH-A	brain
44	chr12:4934400-4938200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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