Variant report

Variant	esv3311556
Chromosome Location	chr15:92673248-92678346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 200 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558511108	chr15:92673260-92673261	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570806998	chr15:92673296-92673297	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140349437	chr15:92673318-92673319	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577542404	chr15:92673332-92673333	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556332265	chr15:92673339-92673340	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576366008	chr15:92673355-92673356	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145423669	chr15:92673396-92673397	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187623005	chr15:92673432-92673433	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs137938520	chr15:92673443-92673444	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117393234	chr15:92673463-92673464	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560196639	chr15:92673473-92673474	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375696501	chr15:92673491-92673492	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576863172	chr15:92673498-92673499	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546054527	chr15:92673530-92673531	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562650864	chr15:92673546-92673547	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142415591	chr15:92673657-92673658	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548518606	chr15:92673784-92673785	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117348457	chr15:92673803-92673804	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527685977	chr15:92673857-92673858	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367816335	chr15:92673863-92673864	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547470037	chr15:92673873-92673874	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570968654	chr15:92673878-92673879	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193167928	chr15:92673898-92673899	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549992987	chr15:92673903-92673904	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569940585	chr15:92673908-92673909	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535619861	chr15:92673909-92673910	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143049713	chr15:92673919-92673920	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148193554	chr15:92673923-92673924	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572605993	chr15:92673978-92673979	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533832040	chr15:92673986-92673987	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114345933	chr15:92674084-92674085	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577040333	chr15:92674111-92674112	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs67232323	chr15:92674115-92674116	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142024540	chr15:92674193-92674194	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562534770	chr15:92674195-92674196	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528181019	chr15:92674212-92674213	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371506562	chr15:92674230-92674231	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150696244	chr15:92674258-92674259	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80222922	chr15:92674371-92674372	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537132418	chr15:92674384-92674385	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546646540	chr15:92674407-92674408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571260145	chr15:92674419-92674420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73540493	chr15:92674427-92674428	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532897523	chr15:92674471-92674472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547807615	chr15:92674490-92674491	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537934872	chr15:92674530-92674531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374961331	chr15:92674590-92674591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs80187650	chr15:92674596-92674597	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564302608	chr15:92674621-92674622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374669341	chr15:92674625-92674626	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:178 , 50 per page) page: 1 2 3 4

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	chr15:92662200-92673400	Weak transcription	HMEC	breast
10	chr15:92662200-92673800	Weak transcription	NHEK	skin
11	chr15:92663000-92677200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr15:92663400-92677600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr15:92663400-92679200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:92663400-92679400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:92663600-92676200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:92664000-92707000	Weak transcription	Liver	Liver
17	chr15:92664000-92712000	Weak transcription	Psoas Muscle	Psoas
18	chr15:92664400-92675200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:92664600-92673400	Weak transcription	Fetal Lung	lung
20	chr15:92664600-92675400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr15:92665200-92689000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr15:92665800-92673400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:92665800-92673400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:92665800-92676600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:92665800-92682400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr15:92665800-92686000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:92666000-92685600	Weak transcription	Fetal Muscle Leg	muscle
28	chr15:92666000-92704200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr15:92666800-92674000	Strong transcription	Esophagus	oesophagus
30	chr15:92667000-92674400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:92667000-92675400	Strong transcription	Aorta	Aorta
32	chr15:92667200-92679200	Strong transcription	Lung	lung
33	chr15:92667400-92673400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr15:92667400-92675400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr15:92667800-92673400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:92667800-92673400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:92667800-92673600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr15:92668000-92673400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr15:92668200-92673400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr15:92668200-92673400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:92668200-92673400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr15:92668200-92673600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:92668200-92674400	Weak transcription	Fetal Brain Male	brain
44	chr15:92668200-92678400	Weak transcription	Fetal Heart	heart
45	chr15:92668200-92690200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:92668400-92673400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr15:92668600-92690800	Weak transcription	Brain Angular Gyrus	brain
48	chr15:92669000-92676200	Strong transcription	Ovary	ovary
49	chr15:92669200-92677200	Weak transcription	Fetal Thymus	thymus
50	chr15:92669200-92677400	Strong transcription	Adipose Nuclei	Adipose

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