Variant report

Variant	esv3366547
Chromosome Location	chr15:72267621-72267855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72262124..72264016-chr15:72266000..72268268,2	K562	blood:
2	chr15:72262124..72264073-chr15:72266768..72269290,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3028361	chr15:72267644-72267645	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34121800	chr15:72267645-72267646	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397791124	chr15:72267664-72267665	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113302954	chr15:72267705-72267706	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142883965	chr15:72267731-72267732	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151293081	chr15:72267732-72267733	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57800508	chr15:72267769-72267770	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548753887	chr15:72267805-72267806	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373886122	chr15:72267809-72267810	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117349522	chr15:72267827-72267828	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117765531	chr15:72267839-72267840	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368364805	chr15:72267848-72267849	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111889378	chr15:72267850-72267851	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72225000-72281600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:72225000-72282000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:72225000-72305200	Weak transcription	Psoas Muscle	Psoas
4	chr15:72225000-72305600	Weak transcription	Gastric	stomach
5	chr15:72225800-72270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:72226600-72281800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr15:72226800-72271200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr15:72226800-72343600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:72227600-72281600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:72227600-72281800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:72227800-72281600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr15:72227800-72326200	Weak transcription	Fetal Brain Male	brain
13	chr15:72228200-72268200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:72228800-72268000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr15:72228800-72279600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr15:72228800-72281600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:72230600-72291000	Weak transcription	Primary B cells from cord blood	blood
18	chr15:72233400-72267800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr15:72233400-72268200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:72240000-72268200	Weak transcription	Esophagus	oesophagus
21	chr15:72240200-72282200	Weak transcription	Aorta	Aorta
22	chr15:72244200-72269400	Weak transcription	HSMM	muscle
23	chr15:72244200-72281800	Weak transcription	Brain Germinal Matrix	brain
24	chr15:72244400-72269400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:72244400-72298600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr15:72244600-72269400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr15:72244800-72281600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:72246600-72268000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr15:72246600-72293600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr15:72247800-72281600	Weak transcription	Liver	Liver
31	chr15:72250200-72267800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:72250200-72281600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:72250200-72291200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr15:72252400-72268200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:72253000-72281600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:72255200-72284000	Weak transcription	Stomach Mucosa	stomach
37	chr15:72255400-72281600	Weak transcription	A549	lung
38	chr15:72255800-72267800	Weak transcription	Fetal Intestine Small	intestine
39	chr15:72257200-72282200	Weak transcription	Thymus	Thymus
40	chr15:72257400-72281600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:72257600-72281600	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:72259800-72281600	Weak transcription	Brain Substantia Nigra	brain
43	chr15:72260000-72281800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr15:72260400-72269600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr15:72260400-72274600	Weak transcription	HUVEC	blood vessel
46	chr15:72260400-72281600	Weak transcription	Colon Smooth Muscle	Colon
47	chr15:72260400-72291200	Weak transcription	Brain Anterior Caudate	brain
48	chr15:72260400-72301000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:72261000-72326200	Weak transcription	NH-A	brain
50	chr15:72262000-72269600	Weak transcription	Ovary	ovary

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