Variant report

Variant	rs279993
Chromosome Location	chr15:76992128-76992129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1499019	1.00[AMR][1000 genomes]
rs1499020	1.00[AMR][1000 genomes]
rs1499022	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs157764	1.00[AMR][1000 genomes]
rs157765	1.00[AMR][1000 genomes]
rs157767	1.00[AMR][1000 genomes]
rs157770	1.00[AMR][1000 genomes]
rs157771	0.83[AMR][1000 genomes]
rs157772	1.00[AMR][1000 genomes]
rs157773	1.00[AMR][1000 genomes]
rs157781	1.00[AMR][1000 genomes]
rs157782	1.00[AMR][1000 genomes]
rs157784	1.00[AMR][1000 genomes]
rs157786	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs157792	1.00[AMR][1000 genomes]
rs157793	1.00[AMR][1000 genomes]
rs166905	1.00[AMR][1000 genomes]
rs185860	1.00[AMR][1000 genomes]
rs2120112	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs2404735	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2439983	1.00[AMR][1000 genomes]
rs2439987	0.85[YRI][hapmap]
rs2454452	1.00[MEX][hapmap]
rs2459364	1.00[AMR][1000 genomes]
rs2468117	1.00[AMR][1000 genomes]
rs2468125	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469240	1.00[AMR][1000 genomes]
rs2469243	1.00[AMR][1000 genomes]
rs2516308	1.00[AMR][1000 genomes]
rs2585728	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2629032	1.00[MEX][hapmap]
rs279991	1.00[AMR][1000 genomes]
rs279994	1.00[AMR][1000 genomes]
rs279995	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs279996	0.95[AFR][1000 genomes]
rs279998	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs280004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280019	1.00[AMR][1000 genomes]
rs280021	1.00[MEX][hapmap]
rs280035	1.00[AMR][1000 genomes]
rs283786	1.00[AMR][1000 genomes]
rs283788	1.00[AMR][1000 genomes]
rs283790	1.00[AMR][1000 genomes]
rs283792	1.00[AMR][1000 genomes]
rs283794	1.00[AMR][1000 genomes]
rs283797	1.00[AMR][1000 genomes]
rs283798	0.83[AMR][1000 genomes]
rs283800	1.00[AMR][1000 genomes]
rs284879	1.00[AMR][1000 genomes]
rs284882	1.00[AMR][1000 genomes]
rs3099144	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3099148	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3102707	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs3102711	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs3102715	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs3102718	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3110376	0.92[AFR][1000 genomes]
rs3110377	1.00[MEX][hapmap]
rs3110380	0.92[AFR][1000 genomes]
rs3110386	1.00[MEX][hapmap]
rs415439	1.00[AMR][1000 genomes]
rs542148	1.00[AMR][1000 genomes]
rs560598	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs598011	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs654416	1.00[AMR][1000 genomes]
rs9888668	0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv904400	chr15:76772062-77085283	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1053924	chr15:76803849-77089079	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv904401	chr15:76816015-77085283	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1042089	chr15:76855098-77016127	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
7	esv2830013	chr15:76863023-77176158	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1042623	chr15:76863437-76999030	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1039269	chr15:76863437-77057021	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
10	nsv904404	chr15:76869929-77033934	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
11	nsv904405	chr15:76869929-77047915	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
12	nsv904406	chr15:76869929-77085283	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
13	nsv904407	chr15:76869929-77121196	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
14	nsv904408	chr15:76884127-77085283	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1046858	chr15:76892097-77020971	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv542440	chr15:76892097-77020971	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1043066	chr15:76892097-77057021	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv542441	chr15:76892097-77057021	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv1046137	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv542442	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv904409	chr15:76893186-77033934	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv904410	chr15:76893186-77047915	ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv904411	chr15:76893186-77085283	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv904412	chr15:76910031-77085283	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv904413	chr15:76923917-76995150	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv457206	chr15:76971456-77121196	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
27	nsv570110	chr15:76971456-77121196	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76984200-77008200	Weak transcription	Fetal Lung	lung
2	chr15:76986400-77002200	Weak transcription	Psoas Muscle	Psoas
3	chr15:76989600-77055800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:76990000-76994000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:76990200-77025200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:76990400-77019000	Weak transcription	Fetal Kidney	kidney
7	chr15:76990800-76993000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:76990800-76993000	Strong transcription	Brain Anterior Caudate	brain
9	chr15:76990800-76993000	Strong transcription	Fetal Intestine Large	intestine
10	chr15:76990800-76994800	Strong transcription	Placenta	Placenta
11	chr15:76990800-76995000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr15:76991000-77020400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:76991200-76992800	Strong transcription	Fetal Thymus	thymus
14	chr15:76991200-76993000	Strong transcription	Primary T cells from cord blood	blood
15	chr15:76991200-76993600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:76991200-76995200	Strong transcription	Adipose Nuclei	Adipose
17	chr15:76991200-76996200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:76991200-77007600	Weak transcription	Fetal Brain Male	brain
19	chr15:76991400-76992800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:76991400-76993000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr15:76991400-76993000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:76991400-76993000	Strong transcription	Fetal Muscle Leg	muscle
23	chr15:76991600-76992200	Weak transcription	Right Atrium	heart
24	chr15:76991600-76992400	Strong transcription	Colon Smooth Muscle	Colon
25	chr15:76991600-76992600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:76991600-76992800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr15:76991600-76992800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:76991600-76993000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr15:76991600-76993000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:76991600-76993000	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr15:76991600-76993000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:76991600-76993000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr15:76991600-76993000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:76991600-76993000	ZNF genes & repeats	Spleen	Spleen
35	chr15:76991600-76993200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:76991600-76993200	Strong transcription	Brain Hippocampus Middle	brain
37	chr15:76991600-76993200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr15:76991600-76994800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr15:76991600-76995400	Strong transcription	Liver	Liver
40	chr15:76991600-76995400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:76991600-76995600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:76991600-76996000	Strong transcription	Primary B cells from cord blood	blood
43	chr15:76991600-76996000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr15:76991800-76992400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:76991800-76992600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:76991800-76992600	Strong transcription	GM12878-XiMat	blood
47	chr15:76991800-76992600	Strong transcription	HSMMtube	muscle
48	chr15:76991800-76992800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:76991800-76992800	Strong transcription	Lung	lung
50	chr15:76991800-76992800	Strong transcription	Right Ventricle	heart

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