Variant report

Variant	rs353885
Chromosome Location	chr12:118651427-118651428
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1092854	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1151901	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1277175	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1726386	0.80[ASN][1000 genomes]
rs2018619	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2249624	0.81[ASN][1000 genomes]
rs353886	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs353887	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs353889	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs353890	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs353892	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs353896	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs364823	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs404566	0.85[ASN][1000 genomes]
rs410747	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs418941	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs456228	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs465735	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs494005	0.85[AMR][1000 genomes]
rs566437	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs708862	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs708863	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs795473	0.89[ASN][1000 genomes]
rs795481	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs795482	0.81[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	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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118620200-118656400	Weak transcription	HepG2	liver
2	chr12:118621000-118682600	Weak transcription	A549	lung
3	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
4	chr12:118628800-118672600	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:118628800-118673000	Weak transcription	NH-A	brain
6	chr12:118629800-118652400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:118636800-118658600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:118637000-118652200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:118637200-118654400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:118637400-118653600	Weak transcription	Ovary	ovary
14	chr12:118637400-118658200	Weak transcription	Brain Anterior Caudate	brain
15	chr12:118637400-118671400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:118637400-118672400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:118637400-118684200	Weak transcription	Pancreas	Pancrea
18	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
19	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
20	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
21	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
22	chr12:118637600-118673000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:118638800-118651600	Weak transcription	Lung	lung
24	chr12:118638800-118654400	Weak transcription	Colonic Mucosa	Colon
25	chr12:118638800-118687800	Weak transcription	Gastric	stomach
26	chr12:118639000-118672200	Weak transcription	Placenta	Placenta
27	chr12:118639000-118672200	Weak transcription	Left Ventricle	heart
28	chr12:118639000-118672800	Weak transcription	Small Intestine	intestine
29	chr12:118639200-118651600	Weak transcription	Fetal Thymus	thymus
30	chr12:118639200-118658000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:118639200-118658200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:118639400-118660800	Weak transcription	HSMMtube	muscle
33	chr12:118639400-118661800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:118639400-118674800	Weak transcription	HMEC	breast
35	chr12:118639800-118672600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:118643000-118672200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:118643600-118660000	Weak transcription	Fetal Stomach	stomach
38	chr12:118644200-118665600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:118644800-118666400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:118645200-118655200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr12:118646000-118652200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:118646200-118652200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:118646800-118652200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr12:118647000-118652200	Strong transcription	Dnd41	blood
45	chr12:118647000-118652400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:118647200-118652000	Strong transcription	Primary T cells from cord blood	blood
47	chr12:118647200-118652200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:118647600-118651800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:118647600-118652000	Strong transcription	Fetal Intestine Large	intestine
50	chr12:118647600-118652200	Strong transcription	Primary hematopoietic stem cells	blood

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