Variant report

Variant	esv3516042
Chromosome Location	chr7:126045887-126051451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200176629	chr7:126050278-126050279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141741300	chr7:126050279-126050280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545977742	chr7:126050281-126050282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573920695	chr7:126050309-126050310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs61594944	chr7:126050325-126050326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563444362	chr7:126050332-126050333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368738829	chr7:126050372-126050373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77160403	chr7:126050380-126050381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201654809	chr7:126051105-126051106	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs186098339	chr7:126051116-126051117	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs557978725	chr7:126051130-126051131	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557292719	chr7:126051140-126051141	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs372216319	chr7:126051327-126051328	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs574202616	chr7:126051332-126051333	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs576508859	chr7:126051418-126051419	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147300560	chr7:126051429-126051430	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201914597	chr7:126051446-126051447	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200040493	chr7:126051447-126051448	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126050200-126050400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr7:126051000-126051600	Active TSS	A549	lung
3	chr7:126051200-126051600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:126051200-126051600	Active TSS	Duodenum Mucosa	Duodenum
5	chr7:126051200-126051800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr7:126051400-126051600	Active TSS	GM12878-XiMat	blood
7	chr7:126051400-126051600	Enhancers	Hela-S3	cervix
8	chr7:126051400-126052000	Active TSS	Brain Angular Gyrus	brain

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