Variant report

Variant	esv1808976
Chromosome Location	chr15:92671919-92676660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 183 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:183 , 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	rs3815318	chr15:92671919-92671920	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181551481	chr15:92671923-92671924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145354996	chr15:92671942-92671943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372409705	chr15:92672014-92672015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527383636	chr15:92672042-92672043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74028809	chr15:92672045-92672046	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs28621815	chr15:92672084-92672085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560720611	chr15:92672092-92672093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577495165	chr15:92672123-92672124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546495986	chr15:92672125-92672126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111762881	chr15:92672163-92672164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185981682	chr15:92672181-92672182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567309834	chr15:92672209-92672210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530431668	chr15:92672220-92672221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151033689	chr15:92672225-92672226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549058016	chr15:92672244-92672245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560699670	chr15:92672245-92672246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375978443	chr15:92672249-92672250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546513935	chr15:92672267-92672268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190835580	chr15:92672283-92672284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532180593	chr15:92672313-92672314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552516765	chr15:92672329-92672330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569133243	chr15:92672330-92672331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538246574	chr15:92672361-92672362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546587070	chr15:92672377-92672378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183706697	chr15:92672379-92672380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80174501	chr15:92672420-92672421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62008653	chr15:92672449-92672450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189144651	chr15:92672451-92672452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371652256	chr15:92672495-92672496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577382728	chr15:92672500-92672501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576154671	chr15:92672640-92672641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190596862	chr15:92672650-92672651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531382243	chr15:92672663-92672664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74028810	chr15:92672677-92672678	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557578828	chr15:92672686-92672687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140907714	chr15:92672687-92672688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182886136	chr15:92672733-92672734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373181597	chr15:92672762-92672763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150161089	chr15:92672775-92672776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540344883	chr15:92672849-92672850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1990230	chr15:92672853-92672854	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs187122752	chr15:92672857-92672858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111324437	chr15:92672890-92672891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191934219	chr15:92672917-92672918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184444571	chr15:92672942-92672943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554769444	chr15:92672960-92672961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573258709	chr15:92672979-92672980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531620980	chr15:92672981-92672982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138609705	chr15:92673095-92673096	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:180 , 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	chr15:92663400-92672800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr15:92663400-92677600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr15:92663400-92679200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:92663400-92679400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:92663600-92676200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:92664000-92707000	Weak transcription	Liver	Liver
18	chr15:92664000-92712000	Weak transcription	Psoas Muscle	Psoas
19	chr15:92664400-92675200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:92664600-92673400	Weak transcription	Fetal Lung	lung
21	chr15:92664600-92675400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:92665200-92689000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr15:92665800-92672800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:92665800-92673400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:92665800-92673400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:92665800-92676600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr15:92665800-92682400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:92665800-92686000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:92666000-92672000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr15:92666000-92685600	Weak transcription	Fetal Muscle Leg	muscle
31	chr15:92666000-92704200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr15:92666800-92674000	Strong transcription	Esophagus	oesophagus
33	chr15:92667000-92674400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:92667000-92675400	Strong transcription	Aorta	Aorta
35	chr15:92667200-92679200	Strong transcription	Lung	lung
36	chr15:92667400-92672800	Strong transcription	Primary T cells from cord blood	blood
37	chr15:92667400-92673400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr15:92667400-92675400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:92667800-92673400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:92667800-92673400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:92667800-92673600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr15:92668000-92672400	Strong transcription	Fetal Stomach	stomach
43	chr15:92668000-92673200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:92668000-92673200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr15:92668000-92673400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr15:92668200-92673200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr15:92668200-92673400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr15:92668200-92673400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr15:92668200-92673400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:92668200-92673600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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