Variant report

Variant	rs353892
Chromosome Location	chr12:118679681-118679682
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1092854	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1151901	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1277175	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2018619	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs353885	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs353886	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs353887	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs353889	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs353890	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs353896	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs364823	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs404566	0.96[ASN][1000 genomes]
rs410747	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs418941	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs456228	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs465735	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs494005	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs566437	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs575121	0.83[ASN][1000 genomes]
rs708862	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708863	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795473	0.87[ASN][1000 genomes]
rs795481	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv1815572	chr12:118664823-118685792	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118621000-118682600	Weak transcription	A549	lung
2	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
3	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:118637400-118684200	Weak transcription	Pancreas	Pancrea
7	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
8	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
9	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
10	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
11	chr12:118638800-118687800	Weak transcription	Gastric	stomach
12	chr12:118650400-118690400	Weak transcription	Stomach Mucosa	stomach
13	chr12:118652200-118727800	Weak transcription	NHLF	lung
14	chr12:118658000-118685400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:118659000-118693800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:118666800-118701000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:118667200-118704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:118669000-118725200	Weak transcription	K562	blood
20	chr12:118671200-118701800	Weak transcription	Right Ventricle	heart
21	chr12:118671400-118683400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:118672800-118681600	Weak transcription	Fetal Stomach	stomach
23	chr12:118673200-118698800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:118673200-118701600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:118673400-118681800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:118673400-118688200	Weak transcription	Brain Substantia Nigra	brain
27	chr12:118673400-118692000	Weak transcription	Brain Anterior Caudate	brain
28	chr12:118673400-118705400	Weak transcription	Colonic Mucosa	Colon
29	chr12:118673400-118710400	Weak transcription	Placenta	Placenta
30	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:118673600-118712000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:118673800-118681400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:118673800-118691400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:118673800-118694200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:118673800-118703000	Weak transcription	Thymus	Thymus
36	chr12:118673800-118709200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:118674000-118681400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:118674000-118681600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:118674000-118681800	Weak transcription	Fetal Lung	lung
41	chr12:118674000-118684200	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:118674000-118687400	Weak transcription	Small Intestine	intestine
43	chr12:118674000-118692000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:118674000-118700800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:118674000-118706200	Weak transcription	Left Ventricle	heart
46	chr12:118674000-118726200	Weak transcription	Lung	lung
47	chr12:118675200-118679800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:118675200-118692200	Weak transcription	Osteobl	bone
49	chr12:118675400-118681400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:118675400-118691600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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