Variant report

Variant	rs12830766
Chromosome Location	chr12:51699034-51699035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51696998..51699958-chr12:51701711..51703812,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10876162	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11169795	0.96[EUR][1000 genomes]
rs11169805	0.86[AMR][1000 genomes]
rs11616158	0.85[AMR][1000 genomes]
rs12829179	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12831721	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17860300	0.86[AMR][1000 genomes]
rs17860301	0.86[AMR][1000 genomes]
rs17860343	0.86[AMR][1000 genomes]
rs57941347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61022955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68042460	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299306	0.86[AMR][1000 genomes]
rs7306746	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7959814	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7964134	0.86[AMR][1000 genomes]
rs9651999	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv469377	chr12:51690751-51733951	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv558877	chr12:51690751-51733951	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51674000-51701400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:51674200-51704000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:51674400-51700600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:51680600-51701600	Weak transcription	Small Intestine	intestine
5	chr12:51681800-51714200	Weak transcription	Gastric	stomach
6	chr12:51686200-51702800	Weak transcription	Colonic Mucosa	Colon
7	chr12:51686800-51701200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:51687000-51703800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:51687000-51707400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:51687800-51700000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr12:51687800-51708000	Strong transcription	Thymus	Thymus
12	chr12:51691800-51702200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:51693800-51701600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:51694800-51701400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:51696600-51700400	Weak transcription	A549	lung
16	chr12:51696600-51712400	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr12:51696800-51701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:51697200-51699800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:51697800-51701600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:51698000-51699800	Weak transcription	GM12878-XiMat	blood
21	chr12:51698200-51702200	Weak transcription	Placenta	Placenta
22	chr12:51698400-51699400	Weak transcription	Primary B cells from cord blood	blood
23	chr12:51698400-51699800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:51698400-51699800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:51698400-51699800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:51698400-51699800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:51698400-51699800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:51698400-51699800	Weak transcription	Fetal Thymus	thymus
29	chr12:51698400-51700000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:51698400-51700000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:51698400-51700200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:51698400-51712600	Weak transcription	Spleen	Spleen
33	chr12:51698600-51699200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:51698600-51700000	Weak transcription	Primary T cells from cord blood	blood
35	chr12:51698600-51700000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:51698600-51700000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:51698800-51699600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:51698800-51699600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:51699000-51699200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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