Variant report

Variant	esv3310931
Chromosome Location	chr15:72384923-72389471
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	chr15:72383759..72385848-chr15:72409093..72411983,2	MCF-7	breast:
2	chr15:72380042..72381883-chr15:72383169..72385505,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066933	chromatin interactions
ENSG00000166192	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533192933	chr15:72384938-72384939	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs183745842	chr15:72385093-72385094	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs551805466	chr15:72385094-72385095	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs566634611	chr15:72385097-72385098	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs8039245	chr15:72385106-72385107	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs201515087	chr15:72385117-72385118	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs552710338	chr15:72385142-72385143	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556778668	chr15:72385153-72385154	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549213960	chr15:72385209-72385210	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs188708724	chr15:72385237-72385238	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs139877512	chr15:72385251-72385252	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs10556964	chr15:72385252-72385253	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs538566413	chr15:72385283-72385284	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs60442282	chr15:72385284-72385285	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs545628423	chr15:72385285-72385286	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs74502908	chr15:72385368-72385369	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs74847949	chr15:72385433-72385434	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs539069481	chr15:72385440-72385441	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145417553	chr15:72385484-72385485	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs573020813	chr15:72385528-72385529	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs137998175	chr15:72385529-72385530	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs555634621	chr15:72385539-72385540	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs191685844	chr15:72385543-72385544	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs11854720	chr15:72385595-72385596	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562644101	chr15:72385598-72385599	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs369380110	chr15:72385607-72385608	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545114705	chr15:72385608-72385609	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs560211383	chr15:72385762-72385763	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs143072885	chr15:72385770-72385771	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs117938826	chr15:72385826-72385827	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs561114675	chr15:72385840-72385841	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs531836071	chr15:72385846-72385847	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs550406656	chr15:72385910-72385911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111329014	chr15:72385979-72385980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112739497	chr15:72385980-72385981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113484859	chr15:72385982-72385983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551422610	chr15:72385999-72386000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563647471	chr15:72386001-72386002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566555095	chr15:72386010-72386011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111356979	chr15:72386017-72386018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191111983	chr15:72386044-72386045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533837375	chr15:72386048-72386049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555522368	chr15:72386049-72386050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374151462	chr15:72386055-72386056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377723685	chr15:72386061-72386062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs386785258	chr15:72386064-72386065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185234637	chr15:72386073-72386074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112432351	chr15:72386122-72386123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573733248	chr15:72386194-72386195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537654584	chr15:72386240-72386241	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72351200-72395800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:72361600-72390600	Weak transcription	Aorta	Aorta
3	chr15:72361600-72391400	Weak transcription	Ovary	ovary
4	chr15:72367200-72407600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:72372200-72399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:72373600-72394400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:72375000-72408200	Weak transcription	Primary B cells from cord blood	blood
8	chr15:72375800-72395600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:72377200-72388200	Weak transcription	Fetal Brain Female	brain
10	chr15:72377800-72397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:72378400-72388400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:72378400-72388600	Weak transcription	Fetal Lung	lung
13	chr15:72378800-72391400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:72378800-72393200	Weak transcription	Fetal Intestine Large	intestine
15	chr15:72378800-72395800	Weak transcription	Colon Smooth Muscle	Colon
16	chr15:72379000-72388600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:72379000-72388600	Weak transcription	Fetal Muscle Leg	muscle
18	chr15:72379000-72395600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr15:72379000-72407800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:72379200-72393200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr15:72379200-72395600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:72379400-72385200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr15:72379600-72388400	Weak transcription	Fetal Intestine Small	intestine
24	chr15:72379800-72388400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr15:72379800-72391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:72379800-72406200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:72380000-72388200	Weak transcription	Fetal Stomach	stomach
28	chr15:72380000-72407600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:72380200-72386000	Weak transcription	Right Ventricle	heart
30	chr15:72380200-72388600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr15:72380200-72395600	Weak transcription	Brain Anterior Caudate	brain
32	chr15:72380200-72395600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr15:72380400-72390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:72380400-72390400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:72380600-72393200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:72380800-72395400	Weak transcription	Psoas Muscle	Psoas
37	chr15:72381000-72391400	Weak transcription	Primary T cells from cord blood	blood
38	chr15:72383400-72388400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:72384800-72385000	Enhancers	Left Ventricle	heart
40	chr15:72384800-72392400	Weak transcription	Stomach Mucosa	stomach
41	chr15:72385200-72385400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr15:72386000-72386200	Enhancers	Right Ventricle	heart
43	chr15:72388200-72388800	ZNF genes & repeats	Fetal Stomach	stomach
44	chr15:72388200-72389000	ZNF genes & repeats	Fetal Brain Female	brain
45	chr15:72388200-72395600	Weak transcription	Osteobl	bone
46	chr15:72388400-72388800	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr15:72388400-72389600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr15:72388400-72389600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr15:72388400-72396200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr15:72388600-72389000	ZNF genes & repeats	Fetal Lung	lung

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