Variant report

Variant	rs11169644
Chromosome Location	chr12:51366535-51366536
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	chr12:51365371..51368263-chr12:51372019..51374890,3	K562	blood:
2	chr12:51365539..51368263-chr12:51371377..51373519,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1005559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1048230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10506298	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10506299	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169626	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169633	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169636	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169637	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169639	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169641	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169646	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169647	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169648	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169649	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169655	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169661	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169667	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169669	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169670	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169671	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169672	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169682	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs11519977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11831810	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs11831946	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs11833022	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs12366476	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12366756	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12369278	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12369639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12369658	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12369666	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12370820	0.83[EUR][1000 genomes]
rs12371463	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12372173	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12809563	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12810174	0.81[EUR][1000 genomes]
rs12810596	0.81[EUR][1000 genomes]
rs12810659	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12811658	0.81[EUR][1000 genomes]
rs12811684	0.81[EUR][1000 genomes]
rs12811777	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12812650	0.82[EUR][1000 genomes]
rs12812727	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12813309	0.81[EUR][1000 genomes]
rs12813368	0.81[EUR][1000 genomes]
rs12813728	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12817386	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12818033	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12819296	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12820966	0.81[EUR][1000 genomes]
rs12821444	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12822509	0.82[EUR][1000 genomes]
rs12824225	0.82[EUR][1000 genomes]
rs12824840	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12824958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12827861	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12828349	0.82[EUR][1000 genomes]
rs12828536	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12830048	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12830073	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12830422	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12831269	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12831597	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs15897	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17125137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs224565	0.88[ASN][1000 genomes]
rs224589	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs224591	0.86[ASN][1000 genomes]
rs2285228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2285230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516742	0.84[ASN][1000 genomes]
rs2630364	0.88[ASN][1000 genomes]
rs319932	0.89[ASN][1000 genomes]
rs34514224	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34735738	0.82[EUR][1000 genomes]
rs35037088	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35262273	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35379220	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35656976	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35999440	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs407135	0.86[ASN][1000 genomes]
rs422637	0.85[ASN][1000 genomes]
rs422982	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs440595	0.82[ASN][1000 genomes]
rs4444142	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4471501	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs454520	0.86[ASN][1000 genomes]
rs4768964	0.80[EUR][1000 genomes]
rs4768967	0.80[EUR][1000 genomes]
rs6580784	0.81[EUR][1000 genomes]
rs67025973	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67133203	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67259551	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67260912	0.81[EUR][1000 genomes]
rs706801	0.91[ASN][1000 genomes]
rs706802	0.91[ASN][1000 genomes]
rs7135059	0.83[EUR][1000 genomes]
rs71445768	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71445772	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7305638	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7306293	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73090655	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7954140	0.80[EUR][1000 genomes]
rs7959075	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7959082	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7964570	0.81[EUR][1000 genomes]
rs7965566	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7972406	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7975147	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7976777	0.81[EUR][1000 genomes]
rs7978723	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs7980874	0.83[EUR][1000 genomes]
rs829022	0.91[ASN][1000 genomes]
rs970098	0.81[EUR][1000 genomes]
rs970099	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1053466	chr12:51350285-51375969	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51323000-51377200	Weak transcription	Aorta	Aorta
2	chr12:51328800-51378000	Weak transcription	Brain Substantia Nigra	brain
3	chr12:51329600-51373600	Weak transcription	Left Ventricle	heart
4	chr12:51331400-51378400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:51331600-51373800	Weak transcription	Pancreas	Pancrea
6	chr12:51331800-51382000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:51331800-51382000	Weak transcription	Ovary	ovary
8	chr12:51341600-51378200	Weak transcription	Right Ventricle	heart
9	chr12:51341800-51372600	Weak transcription	Osteobl	bone
10	chr12:51341800-51383200	Weak transcription	Fetal Brain Male	brain
11	chr12:51342400-51373200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:51342800-51378400	Weak transcription	NHLF	lung
13	chr12:51344000-51382000	Weak transcription	Esophagus	oesophagus
14	chr12:51344600-51381600	Weak transcription	Spleen	Spleen
15	chr12:51347200-51378000	Weak transcription	Brain Angular Gyrus	brain
16	chr12:51347400-51378000	Weak transcription	Brain Anterior Caudate	brain
17	chr12:51350800-51380600	Weak transcription	Fetal Lung	lung
18	chr12:51354400-51383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:51355600-51378000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:51355800-51378000	Weak transcription	A549	lung
21	chr12:51356000-51372600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:51357600-51378000	Weak transcription	Psoas Muscle	Psoas
23	chr12:51358800-51377800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:51359800-51380400	Weak transcription	Fetal Kidney	kidney
25	chr12:51360200-51374400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:51360200-51381800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:51360400-51372600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:51360400-51374400	Weak transcription	HUVEC	blood vessel
29	chr12:51360600-51381000	Weak transcription	Primary B cells from cord blood	blood
30	chr12:51360600-51381800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:51361600-51382200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:51362200-51372600	Weak transcription	Adipose Nuclei	Adipose
33	chr12:51362200-51373400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:51362200-51373800	Weak transcription	Placenta	Placenta
35	chr12:51362400-51376800	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:51362400-51378600	Weak transcription	NH-A	brain
37	chr12:51362400-51382000	Weak transcription	Lung	lung
38	chr12:51362600-51378000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:51362800-51384400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:51363400-51373800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:51363400-51384000	Weak transcription	Colonic Mucosa	Colon
42	chr12:51363600-51381200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:51363800-51372600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:51364000-51372400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:51364000-51380400	Weak transcription	K562	blood
46	chr12:51364600-51378400	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:51364600-51384400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr12:51365000-51366600	Strong transcription	Primary T cells from cord blood	blood
49	chr12:51365000-51367000	Strong transcription	Fetal Brain Female	brain
50	chr12:51365200-51366600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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