Variant report

Variant	esv996042
Chromosome Location	chr15:92674359-92677641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80222922	chr15:92674371-92674372	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537132418	chr15:92674384-92674385	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546646540	chr15:92674407-92674408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571260145	chr15:92674419-92674420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73540493	chr15:92674427-92674428	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532897523	chr15:92674471-92674472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547807615	chr15:92674490-92674491	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537934872	chr15:92674530-92674531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374961331	chr15:92674590-92674591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80187650	chr15:92674596-92674597	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564302608	chr15:92674621-92674622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374669341	chr15:92674625-92674626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533131749	chr15:92674626-92674627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558642662	chr15:92674643-92674644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185389156	chr15:92674663-92674664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140991185	chr15:92674670-92674671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112974126	chr15:92674707-92674708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386786508	chr15:92674721-92674722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549308794	chr15:92674734-92674735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200333279	chr15:92674761-92674762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143213381	chr15:92674784-92674785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534985054	chr15:92674798-92674799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558401155	chr15:92674840-92674841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534312260	chr15:92674849-92674850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539399147	chr15:92674850-92674851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73540496	chr15:92674869-92674870	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576199052	chr15:92674964-92674965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569487258	chr15:92675040-92675041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542045993	chr15:92675110-92675111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs8039722	chr15:92675217-92675218	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs147498310	chr15:92675224-92675225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2238358	chr15:92675258-92675259	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs566657303	chr15:92675269-92675270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180831837	chr15:92675294-92675295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534004392	chr15:92675310-92675311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558572647	chr15:92675340-92675341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4777842	chr15:92675389-92675390	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs563488924	chr15:92675407-92675408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150008436	chr15:92675424-92675425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549581031	chr15:92675427-92675428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577889516	chr15:92675439-92675440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566162123	chr15:92675453-92675454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556998629	chr15:92675457-92675458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528650140	chr15:92675499-92675500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13379483	chr15:92675510-92675511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575465031	chr15:92675525-92675526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77211405	chr15:92675566-92675567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74550920	chr15:92675577-92675578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs8028432	chr15:92675584-92675585	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571920283	chr15:92675606-92675607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92643800-92676000	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr15:92645000-92679800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr15:92645200-92705600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:92648200-92692600	Weak transcription	NHLF	lung
5	chr15:92649200-92710800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:92657000-92690200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:92660600-92678600	Weak transcription	Thymus	Thymus
8	chr15:92661000-92703600	Weak transcription	Small Intestine	intestine
9	chr15:92663000-92677200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr15:92663400-92677600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:92663400-92679200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:92663400-92679400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:92663600-92676200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr15:92664000-92707000	Weak transcription	Liver	Liver
15	chr15:92664000-92712000	Weak transcription	Psoas Muscle	Psoas
16	chr15:92664400-92675200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:92664600-92675400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:92665200-92689000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:92665800-92676600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:92665800-92682400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr15:92665800-92686000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:92666000-92685600	Weak transcription	Fetal Muscle Leg	muscle
23	chr15:92666000-92704200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr15:92667000-92674400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:92667000-92675400	Strong transcription	Aorta	Aorta
26	chr15:92667200-92679200	Strong transcription	Lung	lung
27	chr15:92667400-92675400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:92668200-92674400	Weak transcription	Fetal Brain Male	brain
29	chr15:92668200-92678400	Weak transcription	Fetal Heart	heart
30	chr15:92668200-92690200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:92668600-92690800	Weak transcription	Brain Angular Gyrus	brain
32	chr15:92669000-92676200	Strong transcription	Ovary	ovary
33	chr15:92669200-92677200	Weak transcription	Fetal Thymus	thymus
34	chr15:92669200-92677400	Strong transcription	Adipose Nuclei	Adipose
35	chr15:92669600-92703000	Weak transcription	Brain Anterior Caudate	brain
36	chr15:92670400-92677400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:92670600-92676000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr15:92671200-92678400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:92671600-92708000	Weak transcription	Gastric	stomach
40	chr15:92671800-92674400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr15:92671800-92707800	Weak transcription	Colonic Mucosa	Colon
42	chr15:92671800-92709200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr15:92672000-92704200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr15:92672200-92685400	Weak transcription	Brain Hippocampus Middle	brain
45	chr15:92672200-92695600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:92672200-92703200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:92672400-92689600	Weak transcription	Fetal Stomach	stomach
48	chr15:92672600-92677200	Weak transcription	Brain Substantia Nigra	brain
49	chr15:92672600-92678200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:92672600-92690200	Weak transcription	Spleen	Spleen

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