Variant report

Variant	nsv1020516
Chromosome Location	chr7:135967412-135983684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:135969459..135971484-chr7:135972716..135974904,2	K562	blood:
2	chr7:135971453..135973945-chr7:135974750..135976881,2	K562	blood:
3	chr7:135969459..135971484-chr7:135972716..135974904,2	K562	blood:
4	chr7:135979400..135982923-chr7:135987230..135990822,3	K562	blood:
5	chr7:135979464..135980429-chr7:136090686..136091523,2	MCF-7	breast:
6	chr7:135971453..135973945-chr7:135974750..135976881,2	K562	blood:

Extended variants
information (count: 415 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536086549	chr7:135969814-135969815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2033094	chr7:135969824-135969825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576048242	chr7:135969870-135969871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148335065	chr7:135969896-135969897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557423256	chr7:135969935-135969936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371933570	chr7:135969940-135969941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183384235	chr7:135969966-135969967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539913714	chr7:135969984-135969985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560226685	chr7:135970039-135970040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554889360	chr7:135970042-135970043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187358805	chr7:135970061-135970062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs57763799	chr7:135970072-135970073	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562429759	chr7:135970080-135970081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531459060	chr7:135970132-135970133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117052491	chr7:135970194-135970195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564290292	chr7:135970216-135970217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193195368	chr7:135970219-135970220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533399839	chr7:135970224-135970225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576287166	chr7:135970250-135970251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116710990	chr7:135970359-135970360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185214411	chr7:135970374-135970375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2701017	chr7:135970452-135970453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs370870210	chr7:135970476-135970477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150831424	chr7:135970492-135970493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13226439	chr7:135970515-135970516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538129559	chr7:135970541-135970542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112359296	chr7:135970594-135970595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188082135	chr7:135970595-135970596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150918884	chr7:135970609-135970610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533811580	chr7:135970611-135970612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114342654	chr7:135970704-135970705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201827582	chr7:135970706-135970707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80251441	chr7:135970732-135970733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573439580	chr7:135970772-135970773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542320417	chr7:135970778-135970779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562293621	chr7:135970804-135970805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111973584	chr7:135970810-135970811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146017847	chr7:135970872-135970873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565214621	chr7:135970952-135970953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117374634	chr7:135970968-135970969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547015803	chr7:135970977-135970978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560492840	chr7:135971000-135971001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529360608	chr7:135971024-135971025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4728386	chr7:135971067-135971068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576548160	chr7:135971080-135971081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542144429	chr7:135971121-135971122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569441441	chr7:135971211-135971212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561968313	chr7:135971240-135971241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561432190	chr7:135971254-135971255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551764908	chr7:135971298-135971299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:135969800-135970200	Enhancers	Colon Smooth Muscle	Colon
2	chr7:135970200-135972400	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:135972000-135972600	Enhancers	Rectal Smooth Muscle	rectum
4	chr7:135972400-135973200	Enhancers	Colon Smooth Muscle	Colon
5	chr7:135972600-135976600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:135973200-135977200	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:135975600-135975800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:135975800-135977200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:135976600-135979000	Enhancers	Rectal Smooth Muscle	rectum
10	chr7:135977200-135978000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr7:135977200-135979200	Enhancers	Colon Smooth Muscle	Colon
12	chr7:135978000-135978400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr7:135978400-135978600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:135978600-135980000	Enhancers	Pancreatic Islets	Pancreatic Islet

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