Variant report

Variant	esv3345355
Chromosome Location	chr7:122250833-122251425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377517378	chr7:122250850-122250851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531696112	chr7:122250859-122250860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370097321	chr7:122250870-122250871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140241486	chr7:122250914-122250915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145209126	chr7:122250917-122250918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4236614	chr7:122250933-122250934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571045441	chr7:122250938-122250939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539463755	chr7:122250952-122250953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146461676	chr7:122250960-122250961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569769469	chr7:122250962-122250963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374321046	chr7:122250992-122250993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555410060	chr7:122251025-122251026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535146524	chr7:122251122-122251123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555165847	chr7:122251123-122251124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76309844	chr7:122251146-122251147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540938179	chr7:122251153-122251154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558073789	chr7:122251175-122251176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577856332	chr7:122251176-122251177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4236615	chr7:122251222-122251223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140768418	chr7:122251291-122251292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34549745	chr7:122251373-122251374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397939976	chr7:122251379-122251380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200568308	chr7:122251380-122251381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201484977	chr7:122251381-122251382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555926990	chr7:122251405-122251406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185481484	chr7:122251412-122251413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570902764	chr7:122251413-122251414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Autism	22495311	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	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
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122217600-122265600	Weak transcription	Aorta	Aorta
2	chr7:122237600-122258800	Weak transcription	Pancreas	Pancrea
3	chr7:122238000-122257200	Weak transcription	Fetal Lung	lung
4	chr7:122240400-122256200	Weak transcription	Liver	Liver
5	chr7:122245000-122254800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:122246800-122254000	Weak transcription	Left Ventricle	heart
7	chr7:122251200-122261800	Weak transcription	Adipose Nuclei	Adipose

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