Variant report

Variant	esv3348752
Chromosome Location	chr15:43331139-43331318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186705979	chr15:43331174-43331175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536218737	chr15:43331182-43331183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2412749	chr15:43331196-43331197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3986256	chr15:43331207-43331208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3986257	chr15:43331232-43331233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190645754	chr15:43331237-43331238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9796559	chr15:43331246-43331247	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs180990748	chr15:43331248-43331249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565187052	chr15:43331249-43331250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3986258	chr15:43331250-43331251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3986259	chr15:43331268-43331269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43232000-43362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:43269200-43397200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:43269800-43335200	Weak transcription	Small Intestine	intestine
4	chr15:43287400-43346000	Weak transcription	A549	lung
5	chr15:43297400-43348000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:43298600-43346200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:43298800-43346000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:43299400-43346000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:43301800-43343800	Weak transcription	Psoas Muscle	Psoas
10	chr15:43301800-43345800	Weak transcription	Colonic Mucosa	Colon
11	chr15:43301800-43345800	Weak transcription	Pancreas	Pancrea
12	chr15:43301800-43385800	Weak transcription	Gastric	stomach
13	chr15:43303400-43345800	Weak transcription	Aorta	Aorta
14	chr15:43303400-43397400	Weak transcription	Esophagus	oesophagus
15	chr15:43307600-43331600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:43313200-43333600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:43313200-43334400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:43313200-43339400	Weak transcription	Right Ventricle	heart
19	chr15:43313400-43334400	Weak transcription	Brain Substantia Nigra	brain
20	chr15:43315800-43335400	Weak transcription	Spleen	Spleen
21	chr15:43317200-43346200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr15:43317400-43338000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:43318000-43334000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:43320400-43334200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:43321800-43333800	Weak transcription	HSMMtube	muscle
26	chr15:43322000-43333600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:43322000-43333800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:43322000-43334000	Weak transcription	GM12878-XiMat	blood
29	chr15:43322000-43346200	Weak transcription	NHLF	lung
30	chr15:43322600-43334200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:43322600-43376200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr15:43322800-43333800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr15:43322800-43334200	Weak transcription	Ovary	ovary
34	chr15:43323000-43334000	Weak transcription	Brain Anterior Caudate	brain
35	chr15:43323000-43334000	Weak transcription	Osteobl	bone
36	chr15:43323000-43334200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:43323000-43334200	Weak transcription	Fetal Heart	heart
38	chr15:43323000-43335200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr15:43323200-43333000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr15:43323200-43342800	Weak transcription	Fetal Brain Male	brain
41	chr15:43323400-43334000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr15:43325200-43334800	Weak transcription	HMEC	breast
43	chr15:43326400-43333400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr15:43326400-43333600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:43327000-43334400	Weak transcription	Thymus	Thymus
46	chr15:43327000-43335200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:43327000-43335200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:43327200-43333600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr15:43327200-43335600	Weak transcription	Fetal Intestine Small	intestine
50	chr15:43327600-43333600	Weak transcription	Brain Germinal Matrix	brain

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