Variant report

Variant	nsv429814
Chromosome Location	chr7:136797745-136800745
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	chr7:136798840..136800832-chr7:136803946..136805637,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544133859	chr7:136797796-136797797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564420327	chr7:136797838-136797839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150425589	chr7:136797895-136797896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61337767	chr7:136797908-136797909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58007287	chr7:136797909-136797910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181910066	chr7:136797959-136797960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75588758	chr7:136798012-136798013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1972683	chr7:136798023-136798024	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10226040	chr7:136798046-136798047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186899336	chr7:136798053-136798054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531216868	chr7:136798062-136798063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550961043	chr7:136798067-136798068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544751826	chr7:136798076-136798077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564819774	chr7:136798087-136798088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571125648	chr7:136798116-136798117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372440086	chr7:136798125-136798126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73160493	chr7:136798141-136798142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553568454	chr7:136798149-136798150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1035688	chr7:136798166-136798167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs535201771	chr7:136798194-136798195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554927921	chr7:136798195-136798196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574858149	chr7:136798197-136798198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543826075	chr7:136798199-136798200	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Adenocarcinoma	21044232	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	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136795400-136797800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:136795600-136797800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:136796400-136797800	Weak transcription	NHLF	lung
4	chr7:136797800-136798000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:136797800-136798200	Enhancers	NHLF	lung

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