Variant report

Variant	esv3372517
Chromosome Location	chr7:123874776-123884842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532308927	chr7:123884611-123884612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542999227	chr7:123884649-123884650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13311094	chr7:123884686-123884687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546038218	chr7:123884691-123884692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13311440	chr7:123884696-123884697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13311095	chr7:123884702-123884703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117432961	chr7:123884710-123884711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186617993	chr7:123884735-123884736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547863358	chr7:123884749-123884750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568088422	chr7:123884752-123884753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527391988	chr7:123884772-123884773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547422428	chr7:123884773-123884774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570222601	chr7:123884774-123884775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538812252	chr7:123884777-123884778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558746512	chr7:123884797-123884798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569184026	chr7:123884813-123884814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572138981	chr7:123884815-123884816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Acute lymphoblastic leukemia	21339820	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:123884600-123884800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:123884600-123887200	Enhancers	HMEC	breast
3	chr7:123884800-123885400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:123884800-123887200	Enhancers	NHEK	skin

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