Variant report

Variant	rs11169045
Chromosome Location	chr12:49881079-49881080
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49872294..49876193-chr12:49879137..49882751,3	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10160947	0.83[EUR][1000 genomes]
rs10161131	0.83[EUR][1000 genomes]
rs10783314	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10875955	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10875958	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11169005	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11169008	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169009	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11169014	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11169015	0.83[EUR][1000 genomes]
rs11169016	0.83[EUR][1000 genomes]
rs11169017	0.82[EUR][1000 genomes]
rs11169027	0.83[EUR][1000 genomes]
rs11169043	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169048	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11169049	0.83[AFR][1000 genomes]
rs11169058	0.82[AFR][1000 genomes]
rs11169059	0.82[AFR][1000 genomes]
rs11169063	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169080	0.81[ASN][1000 genomes]
rs11611743	0.83[EUR][1000 genomes]
rs11615710	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296440	0.81[AFR][1000 genomes]
rs12299040	0.80[CHB][hapmap]
rs12299282	0.83[EUR][1000 genomes]
rs12301632	0.83[EUR][1000 genomes]
rs12306118	0.83[EUR][1000 genomes]
rs12306212	0.83[EUR][1000 genomes]
rs12306645	0.83[EUR][1000 genomes]
rs12315996	0.83[EUR][1000 genomes]
rs12320284	0.81[EUR][1000 genomes]
rs2272478	0.83[EUR][1000 genomes]
rs3887727	0.81[ASN][1000 genomes]
rs4993294	0.81[ASN][1000 genomes]
rs57601151	0.83[EUR][1000 genomes]
rs58125498	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61375453	0.81[ASN][1000 genomes]
rs6580709	0.81[EUR][1000 genomes]
rs6580715	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7132684	0.82[EUR][1000 genomes]
rs7133398	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7139061	0.83[EUR][1000 genomes]
rs7294648	0.83[EUR][1000 genomes]
rs7295556	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73297209	0.83[EUR][1000 genomes]
rs74089517	0.81[ASN][1000 genomes]
rs74089520	0.81[ASN][1000 genomes]
rs7488923	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7952938	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7955541	0.84[EUR][1000 genomes]
rs7962951	0.83[EUR][1000 genomes]
rs7969010	0.83[EUR][1000 genomes]
rs7969099	0.83[EUR][1000 genomes]
rs7970059	0.92[EUR][1000 genomes]
rs7974420	0.92[EUR][1000 genomes]
rs7975712	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979285	0.81[ASN][1000 genomes]
rs7980097	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7980731	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv518746	chr12:49870964-49924637	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49823000-49915800	Weak transcription	Primary B cells from cord blood	blood
2	chr12:49840200-49900600	Weak transcription	Pancreas	Pancrea
3	chr12:49850400-49911000	Weak transcription	K562	blood
4	chr12:49853200-49913400	Weak transcription	Thymus	Thymus
5	chr12:49856400-49883400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:49856600-49890200	Weak transcription	Primary T cells from cord blood	blood
7	chr12:49856600-49890200	Weak transcription	Ovary	ovary
8	chr12:49856800-49883600	Weak transcription	Dnd41	blood
9	chr12:49856800-49898400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:49859400-49883400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:49859400-49888600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:49869600-49890000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:49869600-49918400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:49870200-49884600	Weak transcription	Spleen	Spleen
15	chr12:49872200-49895000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:49873000-49890400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:49873000-49918800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:49873200-49918600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:49873800-49904600	Weak transcription	Fetal Heart	heart
20	chr12:49874000-49889800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:49874000-49904400	Weak transcription	Fetal Brain Male	brain
22	chr12:49874200-49890600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:49874800-49914200	Weak transcription	Fetal Kidney	kidney
24	chr12:49876400-49881400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:49876400-49894800	Weak transcription	Fetal Intestine Large	intestine
26	chr12:49876400-49897600	Weak transcription	Small Intestine	intestine
27	chr12:49876400-49911200	Weak transcription	Adipose Nuclei	Adipose
28	chr12:49876600-49883000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:49876600-49883200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr12:49876600-49890000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:49876600-49893200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:49876800-49883000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:49876800-49888400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:49876800-49890000	Weak transcription	NHLF	lung
35	chr12:49876800-49890200	Weak transcription	Fetal Thymus	thymus
36	chr12:49876800-49890400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:49876800-49898000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:49876800-49905200	Weak transcription	Right Ventricle	heart
39	chr12:49876800-49916200	Weak transcription	Psoas Muscle	Psoas
40	chr12:49877000-49893000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:49877000-49908800	Weak transcription	NHDF-Ad	bronchial
42	chr12:49877000-49909000	Weak transcription	Brain Germinal Matrix	brain
43	chr12:49877200-49885200	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:49877600-49881200	Strong transcription	GM12878-XiMat	blood
45	chr12:49877600-49902000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:49877800-49883400	Weak transcription	HepG2	liver
47	chr12:49877800-49885200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:49877800-49889600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:49878000-49881200	Weak transcription	NH-A	brain
50	chr12:49878000-49882200	Weak transcription	HUVEC	blood vessel

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