Variant report

Variant	rs4761982
Chromosome Location	chr12:51675807-51675808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1362963	0.86[AFR][1000 genomes]
rs1965075	0.80[AFR][1000 genomes]
rs1991433	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114876	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288367	0.88[EUR][1000 genomes]
rs2359450	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3210837	0.86[AFR][1000 genomes]
rs3858637	0.82[EUR][1000 genomes]
rs3969069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4409892	0.84[AFR][1000 genomes]
rs4477479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4761985	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4761994	0.99[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4762011	0.86[AFR][1000 genomes]
rs4762012	0.83[AFR][1000 genomes]
rs6580821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133314	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135343	0.86[AFR][1000 genomes]
rs7135736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135840	0.86[AFR][1000 genomes]
rs7306505	0.86[AFR][1000 genomes]
rs7306875	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7308177	0.81[EUR][1000 genomes]
rs7316221	0.81[EUR][1000 genomes]
rs7316604	0.81[EUR][1000 genomes]
rs74093810	0.81[EUR][1000 genomes]
rs74093814	0.81[EUR][1000 genomes]
rs7954976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957868	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7975715	0.81[EUR][1000 genomes]
rs9795598	0.81[AFR][1000 genomes]
rs9795976	0.93[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51664600-51683200	Weak transcription	Spleen	Spleen
2	chr12:51664600-51692800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:51664800-51685800	Weak transcription	Esophagus	oesophagus
4	chr12:51665400-51679800	Weak transcription	Liver	Liver
5	chr12:51665600-51678200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:51669400-51678200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:51673000-51676000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:51673200-51685200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:51673400-51684800	Weak transcription	GM12878-XiMat	blood
10	chr12:51673800-51679400	Strong transcription	Thymus	Thymus
11	chr12:51673800-51685400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:51673800-51697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:51674000-51680600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr12:51674000-51683400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:51674000-51698400	Strong transcription	Fetal Thymus	thymus
16	chr12:51674000-51701400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:51674200-51685400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:51674200-51685600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:51674200-51704000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:51674400-51676000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:51674400-51676200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:51674400-51679000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr12:51674400-51685200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:51674400-51698400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:51674400-51698600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:51674400-51698800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:51674400-51700600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:51674600-51685800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:51674600-51686000	Strong transcription	Primary T cells from cord blood	blood
30	chr12:51674800-51680000	Strong transcription	Primary B cells from cord blood	blood
31	chr12:51675000-51676000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:51675000-51676000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:51675000-51676800	Enhancers	Placenta	Placenta
34	chr12:51675000-51679400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:51675200-51676000	Enhancers	Osteobl	bone
36	chr12:51675200-51685600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:51675400-51676000	Enhancers	NHEK	skin
38	chr12:51675600-51676000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:51675800-51676600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:51675800-51678000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:51675800-51678400	Weak transcription	HMEC	breast
42	chr12:51675800-51678600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:51675800-51679600	Weak transcription	Hela-S3	cervix
44	chr12:51675800-51681800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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