Variant report

Variant	esv993410
Chromosome Location	chr7:138295818-138297312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138293943..138296637-chr7:138298902..138300572,2	MCF-7	breast:
2	chr7:138293866..138295850-chr7:138296980..138298983,2	K562	blood:
3	chr7:138293866..138295850-chr7:138296980..138298983,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573556963	chr7:138295860-138295861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555900185	chr7:138295873-138295874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543850668	chr7:138295894-138295895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562472534	chr7:138295895-138295896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386718328	chr7:138295902-138295903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112719725	chr7:138295903-138295904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61077765	chr7:138295904-138295905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138637823	chr7:138295915-138295916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541247842	chr7:138295931-138295932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1673219	chr7:138295947-138295948	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530384883	chr7:138295952-138295953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547378445	chr7:138295985-138295986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548911221	chr7:138295991-138295992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577804021	chr7:138295993-138295994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560885065	chr7:138295995-138295996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149309073	chr7:138296020-138296021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371819505	chr7:138296021-138296022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549676462	chr7:138296029-138296030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569568282	chr7:138296136-138296137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373830407	chr7:138296138-138296139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548354717	chr7:138296142-138296143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577170330	chr7:138296168-138296169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1673220	chr7:138296187-138296188	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs375656077	chr7:138296231-138296232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147404647	chr7:138296232-138296233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567611898	chr7:138296246-138296247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1673221	chr7:138296251-138296252	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549789612	chr7:138296258-138296259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571239203	chr7:138296272-138296273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371794088	chr7:138296289-138296290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182035970	chr7:138296308-138296309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186232427	chr7:138296309-138296310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538754929	chr7:138296331-138296332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536283350	chr7:138296333-138296334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556178444	chr7:138296381-138296382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190743409	chr7:138296403-138296404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557253890	chr7:138296425-138296426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538445979	chr7:138296544-138296545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28661023	chr7:138296620-138296621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544830598	chr7:138296643-138296644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558726958	chr7:138296644-138296645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182897016	chr7:138296718-138296719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185757422	chr7:138296719-138296720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12112096	chr7:138296743-138296744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541147585	chr7:138296765-138296766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200609566	chr7:138296832-138296833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369657896	chr7:138296932-138296933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191254021	chr7:138296967-138296968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200940236	chr7:138297088-138297089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs28688590	chr7:138297159-138297160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138287600-138303200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:138293200-138298000	Weak transcription	Fetal Lung	lung
3	chr7:138293200-138298800	Weak transcription	Fetal Kidney	kidney
4	chr7:138293200-138308400	Weak transcription	Primary T cells from cord blood	blood
5	chr7:138293600-138297400	Weak transcription	HSMMtube	muscle
6	chr7:138294000-138296200	Enhancers	Fetal Intestine Large	intestine
7	chr7:138294600-138296400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:138294600-138296400	Enhancers	Fetal Intestine Small	intestine
9	chr7:138295200-138296000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:138295200-138296400	Enhancers	Liver	Liver
11	chr7:138295200-138296400	Enhancers	HepG2	liver
12	chr7:138295400-138296200	Enhancers	Ovary	ovary
13	chr7:138295600-138296200	Enhancers	Pancreas	Pancrea
14	chr7:138295800-138296000	Enhancers	K562	blood
15	chr7:138295800-138297200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:138295800-138297200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:138295800-138297800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:138296000-138296800	Weak transcription	K562	blood
19	chr7:138296000-138297800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:138296200-138298200	Weak transcription	Pancreas	Pancrea
21	chr7:138296400-138297400	Weak transcription	HepG2	liver
22	chr7:138296400-138297600	Weak transcription	Liver	Liver
23	chr7:138296400-138298000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:138296400-138303600	Weak transcription	Fetal Intestine Small	intestine
25	chr7:138297000-138297200	Enhancers	K562	blood
26	chr7:138297200-138297400	Enhancers	Primary hematopoietic stem cells	blood
27	chr7:138297200-138299200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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