Variant report

Variant	esv3415215
Chromosome Location	chr15:43382599-43383155
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43375936..43379231-chr15:43382227..43385005,3	K562	blood:
2	chr15:43380004..43382980-chr15:43386018..43388996,5	K562	blood:
3	chr15:43380437..43382771-chr15:43396547..43398200,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556173691	chr15:43382620-43382621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541450197	chr15:43382634-43382635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561870575	chr15:43382673-43382674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367892410	chr15:43382749-43382750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571582348	chr15:43382762-43382763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77101468	chr15:43382818-43382819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527351761	chr15:43382844-43382845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16957409	chr15:43382887-43382888	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs564239629	chr15:43382958-43382959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533287316	chr15:43382962-43382963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34929757	chr15:43382992-43382993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115136676	chr15:43383073-43383074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569951834	chr15:43383087-43383088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557182042	chr15:43383125-43383126	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43269200-43397200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:43301800-43385800	Weak transcription	Gastric	stomach
3	chr15:43303400-43397400	Weak transcription	Esophagus	oesophagus
4	chr15:43345400-43393400	Weak transcription	Psoas Muscle	Psoas
5	chr15:43346800-43395400	Weak transcription	Small Intestine	intestine
6	chr15:43348200-43389600	Weak transcription	Spleen	Spleen
7	chr15:43348400-43397400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr15:43353000-43397400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:43362800-43385600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:43363400-43385600	Weak transcription	Ovary	ovary
11	chr15:43365000-43386800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr15:43365400-43385800	Weak transcription	Aorta	Aorta
13	chr15:43367400-43394400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr15:43370200-43384600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:43370200-43387000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:43373000-43385600	Weak transcription	Lung	lung
17	chr15:43373200-43397200	Weak transcription	Fetal Brain Male	brain
18	chr15:43373400-43385800	Weak transcription	Right Ventricle	heart
19	chr15:43373400-43392400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr15:43373600-43384800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:43373600-43396600	Weak transcription	Pancreas	Pancrea
22	chr15:43374800-43392400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:43375400-43396600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr15:43375600-43395400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:43376600-43385200	Weak transcription	HSMMtube	muscle
26	chr15:43376600-43386800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr15:43376600-43392400	Weak transcription	Fetal Brain Female	brain
28	chr15:43376600-43397200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr15:43376800-43385600	Weak transcription	Left Ventricle	heart
30	chr15:43376800-43396400	Weak transcription	Fetal Kidney	kidney
31	chr15:43376800-43396600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:43377000-43385600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr15:43377000-43385600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:43377200-43391800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:43377400-43385600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr15:43377600-43383400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr15:43377600-43383800	Weak transcription	Fetal Muscle Leg	muscle
38	chr15:43377600-43385200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr15:43377600-43385200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:43377600-43392600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr15:43377600-43397200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr15:43377600-43397200	Weak transcription	Colonic Mucosa	Colon
43	chr15:43377800-43387600	Weak transcription	HepG2	liver
44	chr15:43378000-43384200	Weak transcription	Fetal Intestine Large	intestine
45	chr15:43378000-43384400	Weak transcription	Fetal Lung	lung
46	chr15:43378000-43389600	Weak transcription	HUVEC	blood vessel
47	chr15:43378000-43391800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr15:43378000-43393000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:43378200-43385600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr15:43378200-43389200	Weak transcription	Thymus	Thymus

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