Variant report

Variant	rs1217415
Chromosome Location	chr1:114407547-114407548
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10858017	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs10858018	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs11102691	0.91[CEU][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap]
rs1146187	0.95[CEU][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap]
rs12041547	0.86[CHB][hapmap]
rs12061482	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs1217377	0.95[CEU][hapmap];0.81[CHB][hapmap]
rs1217380	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap]
rs1217388	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap]
rs1217389	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap]
rs1217395	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap]
rs1217396	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap]
rs1217407	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap]
rs1217410	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs1217412	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs1217413	0.86[CHB][hapmap];0.86[TSI][hapmap]
rs1230640	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs1230645	0.95[CEU][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap]
rs1230647	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs1230649	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs1230658	0.95[CEU][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs1230659	0.95[CEU][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs1230685	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs1237682	0.86[CHB][hapmap]
rs12566340	0.91[CEU][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap]
rs1936398	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap]
rs1981319	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap]
rs2093436	0.86[CEU][hapmap];0.86[CHB][hapmap]
rs2295853	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs2359167	0.86[CHB][hapmap];0.87[TSI][hapmap]
rs2488457	0.82[GIH][hapmap];0.82[JPT][hapmap]
rs2488458	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap]
rs2636013	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs2797409	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap]
rs2797412	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs4145859	0.86[CHB][hapmap]
rs4600045	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs6537792	0.95[CEU][hapmap]
rs6698586	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs7529353	0.91[CEU][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap]
rs9429730	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers 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 miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114355800-114413000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:114397800-114409800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:114401600-114409000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:114401600-114412000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:114401800-114410800	Weak transcription	Fetal Thymus	thymus
6	chr1:114402800-114411200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:114403400-114412600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:114403600-114408200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:114403800-114408200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:114403800-114409400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:114403800-114410400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:114403800-114411200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:114404400-114409400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:114404600-114408200	Strong transcription	Primary T cells from cord blood	blood
15	chr1:114404600-114409200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:114404600-114409400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:114404600-114409400	Weak transcription	HMEC	breast
18	chr1:114404600-114409400	Weak transcription	NHEK	skin
19	chr1:114404600-114409800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:114404600-114410800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:114404800-114410800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:114405200-114410400	Weak transcription	Osteobl	bone
23	chr1:114405400-114408600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:114405400-114409400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:114405600-114407600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:114405600-114407800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:114405800-114408000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:114405800-114410200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:114405800-114410200	Weak transcription	Primary B cells from cord blood	blood
30	chr1:114405800-114413800	Weak transcription	K562	blood
31	chr1:114406000-114407600	Strong transcription	Thymus	Thymus
32	chr1:114406000-114412400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:114406200-114408800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr1:114406400-114407600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:114406400-114409000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:114406400-114410200	Weak transcription	Dnd41	blood
37	chr1:114406800-114408200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:114407000-114408600	Weak transcription	GM12878-XiMat	blood
39	chr1:114407000-114410400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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