Variant report

Variant	rs11169049
Chromosome Location	chr12:49895496-49895497
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49758981..49761060-chr12:49892090..49895643,3	K562	blood:

Variant related genes	Relation type
ENSG00000123352	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10160947	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10161131	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10783314	0.82[AMR][1000 genomes]
rs11169005	0.82[AMR][1000 genomes]
rs11169008	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11169009	0.82[AMR][1000 genomes]
rs11169015	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11169016	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11169017	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11169027	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169043	0.84[AFR][1000 genomes]
rs11169045	0.83[AFR][1000 genomes]
rs11169048	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169058	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169059	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611743	0.92[EUR][1000 genomes]
rs12296440	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299282	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12300817	1.00[ASN][1000 genomes]
rs12301632	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12305716	1.00[ASN][1000 genomes]
rs12306118	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12306212	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12306645	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12309053	1.00[ASN][1000 genomes]
rs12314428	1.00[ASN][1000 genomes]
rs12315996	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316170	1.00[ASN][1000 genomes]
rs12318633	1.00[ASN][1000 genomes]
rs12320284	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12322561	1.00[ASN][1000 genomes]
rs12322571	1.00[ASN][1000 genomes]
rs2272478	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57200170	1.00[ASN][1000 genomes]
rs57601151	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58125498	0.81[AFR][1000 genomes]
rs60808917	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580707	0.89[EUR][1000 genomes]
rs6580709	0.90[EUR][1000 genomes]
rs6580711	0.89[EUR][1000 genomes]
rs7132684	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7139061	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7294648	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294973	1.00[ASN][1000 genomes]
rs73297209	0.92[EUR][1000 genomes]
rs73301240	1.00[ASN][1000 genomes]
rs73301259	1.00[ASN][1000 genomes]
rs7955541	0.90[EUR][1000 genomes]
rs7962951	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7969010	0.92[EUR][1000 genomes]
rs7969099	0.92[EUR][1000 genomes]
rs7975712	0.85[AFR][1000 genomes]
rs7976165	1.00[ASN][1000 genomes]
rs9919739	0.83[ASN][1000 genomes]
rs9919740	0.83[ASN][1000 genomes]
rs9919807	0.83[ASN][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:106 , 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	chr12:49856800-49898400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:49869600-49918400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:49873000-49918800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:49873200-49918600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:49873800-49904600	Weak transcription	Fetal Heart	heart
10	chr12:49874000-49904400	Weak transcription	Fetal Brain Male	brain
11	chr12:49874800-49914200	Weak transcription	Fetal Kidney	kidney
12	chr12:49876400-49897600	Weak transcription	Small Intestine	intestine
13	chr12:49876400-49911200	Weak transcription	Adipose Nuclei	Adipose
14	chr12:49876800-49898000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:49876800-49905200	Weak transcription	Right Ventricle	heart
16	chr12:49876800-49916200	Weak transcription	Psoas Muscle	Psoas
17	chr12:49877000-49908800	Weak transcription	NHDF-Ad	bronchial
18	chr12:49877000-49909000	Weak transcription	Brain Germinal Matrix	brain
19	chr12:49877600-49902000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:49878600-49918600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:49880400-49916000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:49881800-49897400	Weak transcription	Gastric	stomach
23	chr12:49882200-49918800	Weak transcription	Colonic Mucosa	Colon
24	chr12:49882400-49918400	Weak transcription	Lung	lung
25	chr12:49882600-49916400	Weak transcription	Aorta	Aorta
26	chr12:49884200-49918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:49884200-49918600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:49884400-49899400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:49884600-49916400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:49885600-49901800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:49885800-49904600	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:49886000-49918400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:49886400-49896200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:49886400-49918200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:49886600-49895800	Weak transcription	HMEC	breast
36	chr12:49887600-49896200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:49888400-49898000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr12:49888800-49927800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:49889200-49896000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:49889400-49898400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:49890200-49897200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:49890600-49896400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:49890800-49918600	Weak transcription	Brain Anterior Caudate	brain
44	chr12:49890800-49918600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:49891000-49895800	Weak transcription	Hela-S3	cervix
46	chr12:49891000-49896800	Weak transcription	Brain Angular Gyrus	brain
47	chr12:49891000-49899600	Weak transcription	NHLF	lung
48	chr12:49891000-49916600	Weak transcription	Ovary	ovary
49	chr12:49891200-49897800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:49891200-49900800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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