Variant report

Variant	esv3397375
Chromosome Location	chr15:72391923-72394771
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	chr15:72393359..72395081-chr15:72408256..72411185,2	K562	blood:

Variant related genes	Relation type
ENSG00000066933	chromatin interactions
ENSG00000166192	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551021746	chr15:72391930-72391931	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569287871	chr15:72391934-72391935	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538130969	chr15:72391944-72391945	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529495441	chr15:72391948-72391949	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533329150	chr15:72391958-72391959	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551607001	chr15:72391963-72391964	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112503014	chr15:72391968-72391969	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146956791	chr15:72391969-72391970	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375364858	chr15:72391972-72391973	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555786752	chr15:72391976-72391977	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568019682	chr15:72391979-72391980	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535119982	chr15:72391988-72391989	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189343994	chr15:72391995-72391996	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs8037333	chr15:72392048-72392049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369850515	chr15:72392115-72392116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557947049	chr15:72392191-72392192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374366405	chr15:72392197-72392198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540507222	chr15:72392200-72392201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561852546	chr15:72392210-72392211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs8038968	chr15:72392244-72392245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34892673	chr15:72392250-72392251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs386383457	chr15:72392274-72392275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370156060	chr15:72392302-72392303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544309860	chr15:72392303-72392304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562997166	chr15:72392365-72392366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368890972	chr15:72392399-72392400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551469444	chr15:72392404-72392405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181786004	chr15:72392499-72392500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527900687	chr15:72392511-72392512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35186252	chr15:72392515-72392516	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs567897089	chr15:72392526-72392527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535405918	chr15:72392542-72392543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550348974	chr15:72392582-72392583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556424419	chr15:72392623-72392624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577886497	chr15:72392650-72392651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557912151	chr15:72392674-72392675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573041615	chr15:72392705-72392706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534014538	chr15:72392710-72392711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555615635	chr15:72392734-72392735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546275963	chr15:72392764-72392765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373425749	chr15:72392765-72392766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573900501	chr15:72392786-72392787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544584959	chr15:72392820-72392821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199774530	chr15:72392830-72392831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577617968	chr15:72392850-72392851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557260430	chr15:72392871-72392872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545070687	chr15:72392895-72392896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369465686	chr15:72392910-72392911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527861898	chr15:72392958-72392959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549337468	chr15:72392963-72392964	Weak transcription	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
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72351200-72395800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:72367200-72407600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr15:72372200-72399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:72373600-72394400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:72375000-72408200	Weak transcription	Primary B cells from cord blood	blood
6	chr15:72375800-72395600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:72377800-72397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:72378800-72393200	Weak transcription	Fetal Intestine Large	intestine
9	chr15:72378800-72395800	Weak transcription	Colon Smooth Muscle	Colon
10	chr15:72379000-72395600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:72379000-72407800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:72379200-72393200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr15:72379200-72395600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:72379800-72406200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:72380000-72407600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:72380200-72395600	Weak transcription	Brain Anterior Caudate	brain
17	chr15:72380200-72395600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:72380600-72393200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr15:72380800-72395400	Weak transcription	Psoas Muscle	Psoas
20	chr15:72384800-72392400	Weak transcription	Stomach Mucosa	stomach
21	chr15:72388200-72395600	Weak transcription	Osteobl	bone
22	chr15:72388400-72396200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr15:72389200-72395600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:72389400-72395800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:72389400-72396400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:72389600-72395600	Weak transcription	Fetal Lung	lung
27	chr15:72389600-72395600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr15:72389600-72403600	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:72389800-72396200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:72390400-72407600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr15:72390800-72395000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:72390800-72395000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:72390800-72395600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:72390800-72395600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:72391000-72395600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:72391200-72404200	Weak transcription	HSMMtube	muscle
37	chr15:72391400-72392000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:72391400-72392600	Strong transcription	Fetal Intestine Small	intestine
39	chr15:72391400-72392600	Strong transcription	Fetal Stomach	stomach
40	chr15:72391800-72401600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:72391800-72406600	Weak transcription	Ovary	ovary
42	chr15:72392000-72395600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr15:72392600-72403000	Weak transcription	Fetal Intestine Small	intestine
44	chr15:72392600-72404000	Weak transcription	Fetal Stomach	stomach

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