Variant report

Variant	esv1471021
Chromosome Location	chr7:138300271-138300510
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	chr7:138293943..138296637-chr7:138298902..138300572,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532953583	chr7:138300272-138300273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10954622	chr7:138300283-138300284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10954623	chr7:138300291-138300292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62485286	chr7:138300300-138300301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78049166	chr7:138300345-138300346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77728915	chr7:138300352-138300353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532136505	chr7:138300403-138300404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76863288	chr7:138300409-138300410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77847025	chr7:138300412-138300413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62485287	chr7:138300423-138300424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs62485288	chr7:138300432-138300433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs62485289	chr7:138300435-138300436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62485290	chr7:138300453-138300454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62485291	chr7:138300454-138300455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62485292	chr7:138300456-138300457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62485293	chr7:138300457-138300458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62485294	chr7:138300462-138300463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62485295	chr7:138300465-138300466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62485296	chr7:138300472-138300473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62485297	chr7:138300476-138300477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62485298	chr7:138300489-138300490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62485299	chr7:138300491-138300492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62485300	chr7:138300495-138300496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs62485301	chr7:138300496-138300497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs62485302	chr7:138300497-138300498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs71179703	chr7:138300510-138300511	Weak transcription	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:14 , 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	chr7:138293200-138308400	Weak transcription	Primary T cells from cord blood	blood
3	chr7:138296400-138303600	Weak transcription	Fetal Intestine Small	intestine
4	chr7:138297400-138307400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:138297600-138318800	Weak transcription	Hela-S3	cervix
6	chr7:138298800-138301000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:138298800-138301000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr7:138298800-138303200	Weak transcription	Pancreas	Pancrea
9	chr7:138299000-138300800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:138299000-138303400	Weak transcription	Liver	Liver
11	chr7:138299200-138301000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:138299200-138303600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:138299800-138302200	Weak transcription	Fetal Kidney	kidney
14	chr7:138300000-138302400	Weak transcription	HepG2	liver

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