Variant report

Variant	rs17774489
Chromosome Location	chr12:82760208-82760209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10506869	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10506872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735453	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10746242	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10746244	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10746245	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10778888	1.00[ASN][1000 genomes]
rs10778889	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10778895	1.00[ASN][1000 genomes]
rs10778902	1.00[ASN][1000 genomes]
rs10778908	1.00[CHB][hapmap]
rs10862480	1.00[ASN][1000 genomes]
rs10862482	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115234	1.00[ASN][1000 genomes]
rs11115240	1.00[ASN][1000 genomes]
rs11115241	1.00[ASN][1000 genomes]
rs11115242	1.00[ASN][1000 genomes]
rs11831879	1.00[ASN][1000 genomes]
rs11832758	1.00[ASN][1000 genomes]
rs11835324	1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11836773	1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1494023	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1494024	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1494027	1.00[CHB][hapmap]
rs17711838	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17712868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17712927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17719063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17719970	1.00[ASN][1000 genomes]
rs17720305	1.00[ASN][1000 genomes]
rs17773938	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17774157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17774872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775025	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17776036	1.00[ASN][1000 genomes]
rs17776290	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17776375	1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17776885	1.00[ASN][1000 genomes]
rs2401034	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2401035	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2642010	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2717446	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2731287	1.00[ASN][1000 genomes]
rs2895914	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2896434	1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34638401	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34775923	1.00[ASN][1000 genomes]
rs4143188	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4143189	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4319577	1.00[ASN][1000 genomes]
rs4411333	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4491327	1.00[ASN][1000 genomes]
rs4495950	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4544081	1.00[CHB][hapmap]
rs4882453	1.00[ASN][1000 genomes]
rs4882526	1.00[ASN][1000 genomes]
rs4882527	1.00[ASN][1000 genomes]
rs4882528	1.00[ASN][1000 genomes]
rs4882530	1.00[ASN][1000 genomes]
rs57418508	1.00[ASN][1000 genomes]
rs6539659	1.00[ASN][1000 genomes]
rs6539662	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7138488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295566	1.00[ASN][1000 genomes]
rs7304084	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7311246	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73149542	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149543	0.83[EUR][1000 genomes]
rs73149557	1.00[ASN][1000 genomes]
rs73149567	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149577	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151460	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151484	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151489	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151496	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153539	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153551	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153559	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153561	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153569	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153571	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153572	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153573	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153577	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153578	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153580	0.81[AMR][1000 genomes]
rs73153584	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153585	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153587	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73153588	1.00[ASN][1000 genomes]
rs73153590	1.00[ASN][1000 genomes]
rs73153592	1.00[ASN][1000 genomes]
rs73153599	1.00[ASN][1000 genomes]
rs73155404	1.00[ASN][1000 genomes]
rs73155406	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73155441	1.00[ASN][1000 genomes]
rs7488252	1.00[ASN][1000 genomes]
rs7956163	1.00[ASN][1000 genomes]
rs7957993	1.00[ASN][1000 genomes]
rs7960966	1.00[ASN][1000 genomes]
rs7964174	1.00[ASN][1000 genomes]
rs7966041	1.00[ASN][1000 genomes]
rs7967097	1.00[ASN][1000 genomes]
rs7968024	1.00[ASN][1000 genomes]
rs7971746	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559539	chr12:82280797-82896218	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1041954	chr12:82314981-83008609	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv541550	chr12:82314981-83008609	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82753200-82767200	Weak transcription	Aorta	Aorta
2	chr12:82753200-82767800	Weak transcription	Esophagus	oesophagus
3	chr12:82753200-82767800	Weak transcription	Lung	lung
4	chr12:82753400-82761400	Weak transcription	Brain Anterior Caudate	brain
5	chr12:82753400-82763000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:82753400-82763200	Weak transcription	Placenta	Placenta
7	chr12:82753400-82763800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:82753400-82765200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:82753400-82765400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:82753400-82767400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:82753400-82767800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:82753400-82767800	Weak transcription	Thymus	Thymus
13	chr12:82753400-82768600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:82753400-82786200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:82753600-82763400	Weak transcription	Fetal Intestine Large	intestine
16	chr12:82753600-82763400	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:82753600-82767600	Weak transcription	Primary B cells from cord blood	blood
18	chr12:82753600-82777800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:82753600-82782400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:82753600-82799800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:82753600-82805200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:82753800-82761600	Weak transcription	Stomach Mucosa	stomach
23	chr12:82753800-82763000	Weak transcription	Primary T cells from cord blood	blood
24	chr12:82753800-82763200	Weak transcription	Fetal Intestine Small	intestine
25	chr12:82753800-82763400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:82753800-82767200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:82753800-82767600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:82753800-82767600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:82753800-82770800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:82753800-82804800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:82754000-82794800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:82754000-82804600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:82754200-82769000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:82754200-82779600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:82754200-82803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:82754400-82763200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:82754400-82765400	Weak transcription	Liver	Liver
38	chr12:82754400-82765600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:82754400-82767400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:82754400-82767800	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:82754400-82768600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr12:82754400-82782200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:82754400-82804000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:82754600-82765000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:82754600-82765600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:82754600-82766400	Weak transcription	Brain Angular Gyrus	brain
47	chr12:82754600-82767200	Weak transcription	Brain Substantia Nigra	brain
48	chr12:82754600-82782200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:82754600-82794600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:82755600-82802200	Weak transcription	Pancreas	Pancrea

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