Variant report

Variant	rs279994
Chromosome Location	chr15:76991655-76991656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1020280	0.87[AFR][1000 genomes]
rs1499019	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1499020	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1499022	1.00[AMR][1000 genomes]
rs157764	1.00[AMR][1000 genomes]
rs157765	1.00[AMR][1000 genomes]
rs157767	1.00[AMR][1000 genomes]
rs157770	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs157771	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs157772	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs157773	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs157781	1.00[AMR][1000 genomes]
rs157782	1.00[AMR][1000 genomes]
rs157784	1.00[AMR][1000 genomes]
rs157786	1.00[AMR][1000 genomes]
rs157792	1.00[AMR][1000 genomes]
rs157793	1.00[AMR][1000 genomes]
rs166905	1.00[AMR][1000 genomes]
rs1846437	0.80[AFR][1000 genomes]
rs185860	1.00[AMR][1000 genomes]
rs2015132	0.87[AFR][1000 genomes]
rs2120112	1.00[AMR][1000 genomes]
rs2404735	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2439983	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2454452	0.83[AFR][1000 genomes]
rs2459364	1.00[AMR][1000 genomes]
rs2468117	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2468125	1.00[AMR][1000 genomes]
rs2469240	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469243	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469245	0.84[AFR][1000 genomes]
rs2516308	1.00[AMR][1000 genomes]
rs2585728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs279991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs279993	1.00[AMR][1000 genomes]
rs279995	1.00[AMR][1000 genomes]
rs279998	0.83[AMR][1000 genomes]
rs280004	1.00[AMR][1000 genomes]
rs280016	0.83[AFR][1000 genomes]
rs280017	0.98[AFR][1000 genomes]
rs280019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280021	0.98[AFR][1000 genomes]
rs280022	0.96[AFR][1000 genomes]
rs280027	0.84[AFR][1000 genomes]
rs280031	0.87[AFR][1000 genomes]
rs280034	0.87[AFR][1000 genomes]
rs280035	0.89[AFR][1000 genomes];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]
rs2930684	0.98[AFR][1000 genomes]
rs3099144	1.00[AMR][1000 genomes]
rs3099145	0.80[AFR][1000 genomes]
rs3099148	1.00[AMR][1000 genomes]
rs3102707	1.00[AMR][1000 genomes]
rs3102711	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3102718	1.00[AMR][1000 genomes]
rs415439	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs542148	1.00[AMR][1000 genomes]
rs560598	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs598011	1.00[AMR][1000 genomes]
rs654416	1.00[AMR][1000 genomes]

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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76902600-76992000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:76936600-76991800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr15:76940200-76991800	Weak transcription	Left Ventricle	heart
4	chr15:76942400-76991800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:76954200-76992000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:76961200-76992000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:76972600-76991800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:76973200-76991800	Weak transcription	Aorta	Aorta
9	chr15:76975000-76991800	Weak transcription	Thymus	Thymus
10	chr15:76975200-76991800	Weak transcription	Fetal Stomach	stomach
11	chr15:76980200-76991800	Weak transcription	Fetal Intestine Small	intestine
12	chr15:76981800-76991800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:76984200-77008200	Weak transcription	Fetal Lung	lung
14	chr15:76986200-76991800	Weak transcription	Pancreas	Pancrea
15	chr15:76986400-76992000	Weak transcription	HepG2	liver
16	chr15:76986400-77002200	Weak transcription	Psoas Muscle	Psoas
17	chr15:76987400-76991800	Weak transcription	Right Ventricle	heart
18	chr15:76988400-76991800	Weak transcription	Dnd41	blood
19	chr15:76989200-76991800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr15:76989400-76991800	Weak transcription	Fetal Brain Female	brain
21	chr15:76989400-76991800	Weak transcription	GM12878-XiMat	blood
22	chr15:76989400-76992000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr15:76989600-76991800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr15:76989600-77055800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr15:76990000-76991800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:76990000-76991800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:76990000-76991800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:76990000-76991800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:76990000-76991800	Weak transcription	Brain Germinal Matrix	brain
30	chr15:76990000-76991800	Weak transcription	Gastric	stomach
31	chr15:76990000-76991800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr15:76990000-76991800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr15:76990000-76994000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr15:76990200-76991800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:76990200-76991800	Weak transcription	Brain Angular Gyrus	brain
36	chr15:76990200-76991800	Weak transcription	Brain Substantia Nigra	brain
37	chr15:76990200-76991800	Weak transcription	Esophagus	oesophagus
38	chr15:76990200-76991800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr15:76990200-76991800	Weak transcription	Lung	lung
40	chr15:76990200-76991800	Weak transcription	HSMMtube	muscle
41	chr15:76990200-76992000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr15:76990200-76992000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:76990200-77025200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:76990400-76991800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr15:76990400-76992000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:76990400-76992000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:76990400-76992000	Weak transcription	Colonic Mucosa	Colon
48	chr15:76990400-76992000	Weak transcription	Ovary	ovary
49	chr15:76990400-77019000	Weak transcription	Fetal Kidney	kidney
50	chr15:76990600-76992000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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