Variant report

Variant	esv3333813
Chromosome Location	chr15:76943897-76945845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80036735	chr15:76943907-76943908	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs183296557	chr15:76943966-76943967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552478551	chr15:76943971-76943972	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs560147871	chr15:76944000-76944001	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs142225758	chr15:76944109-76944110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs535962042	chr15:76944153-76944154	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560767865	chr15:76944156-76944157	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs556024693	chr15:76944202-76944203	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs531613775	chr15:76944311-76944312	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs376235532	chr15:76944316-76944317	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs75666746	chr15:76944327-76944328	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs62026898	chr15:76944371-76944372	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs114276906	chr15:76944372-76944373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs547614899	chr15:76944398-76944399	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs375639892	chr15:76944411-76944412	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs566914513	chr15:76944416-76944417	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs116439742	chr15:76944449-76944450	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs151027729	chr15:76944457-76944458	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs567590022	chr15:76944492-76944493	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs537866875	chr15:76944510-76944511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374057250	chr15:76944541-76944542	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs367934938	chr15:76944550-76944551	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs556412642	chr15:76944552-76944553	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs577922319	chr15:76944554-76944555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs140949546	chr15:76944563-76944564	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs554112148	chr15:76944580-76944581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs187431270	chr15:76944588-76944589	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs56989970	chr15:76944615-76944616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56114439	chr15:76944616-76944617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56217004	chr15:76944618-76944619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373624257	chr15:76944620-76944621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377595981	chr15:76944622-76944623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2930694	chr15:76944624-76944625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2930693	chr15:76944626-76944627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578133004	chr15:76944648-76944649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12442761	chr15:76944650-76944651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71143349	chr15:76944651-76944652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2956388	chr15:76944652-76944653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56368775	chr15:76944664-76944665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55986018	chr15:76944670-76944671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71398947	chr15:76944672-76944673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12442762	chr15:76944674-76944675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59866389	chr15:76944675-76944676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12440130	chr15:76944686-76944687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370703275	chr15:76944688-76944689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189583170	chr15:76944710-76944711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55694540	chr15:76944712-76944713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56164668	chr15:76944743-76944744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545172871	chr15:76944778-76944779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546598892	chr15:76944833-76944834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Intellectual disability	22102821	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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76882200-76991400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:76898400-76981000	Weak transcription	Pancreas	Pancrea
3	chr15:76902600-76992000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:76906000-76946800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr15:76910000-76964200	Weak transcription	Brain Hippocampus Middle	brain
6	chr15:76910200-76959400	Weak transcription	Brain Substantia Nigra	brain
7	chr15:76911400-76990800	Weak transcription	Placenta	Placenta
8	chr15:76914000-76952600	Weak transcription	Brain Angular Gyrus	brain
9	chr15:76918200-76951600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:76923200-76948400	Weak transcription	Fetal Heart	heart
11	chr15:76926200-76962000	Weak transcription	Gastric	stomach
12	chr15:76926600-76974600	Weak transcription	Esophagus	oesophagus
13	chr15:76926800-76946600	Weak transcription	Fetal Thymus	thymus
14	chr15:76929200-76954200	Weak transcription	Adipose Nuclei	Adipose
15	chr15:76929200-76955800	Weak transcription	Psoas Muscle	Psoas
16	chr15:76929200-76959200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr15:76929400-76953200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:76933200-76974800	Weak transcription	Thymus	Thymus
19	chr15:76933400-76947400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:76933800-76947000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr15:76933800-76961800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:76934200-76954800	Weak transcription	Brain Germinal Matrix	brain
23	chr15:76934400-76948600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:76935800-76947000	Weak transcription	Dnd41	blood
25	chr15:76936200-76947000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:76936600-76991800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr15:76937400-76958000	Weak transcription	Fetal Lung	lung
28	chr15:76938200-76946800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr15:76938800-76946800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr15:76938800-76959000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:76939000-76967800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:76940000-76970800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr15:76940200-76960400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:76940200-76991800	Weak transcription	Left Ventricle	heart
35	chr15:76941200-76946800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr15:76941400-76946400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:76941400-76946800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr15:76941400-76947000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr15:76941400-76948800	Weak transcription	Fetal Brain Female	brain
40	chr15:76941400-76959000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr15:76941400-76991600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr15:76941600-76951600	Weak transcription	Right Ventricle	heart
43	chr15:76941600-76955600	Weak transcription	Fetal Intestine Large	intestine
44	chr15:76941800-76944400	Weak transcription	Fetal Intestine Small	intestine
45	chr15:76941800-76946800	Weak transcription	Primary B cells from cord blood	blood
46	chr15:76941800-76947000	Weak transcription	Primary T cells from cord blood	blood
47	chr15:76941800-76951600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr15:76941800-76951600	Weak transcription	Ovary	ovary
49	chr15:76941800-76954400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr15:76941800-76956600	Weak transcription	Aorta	Aorta

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