Variant report

Variant	esv1798234
Chromosome Location	chr7:121494164-121505847
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120446895..120449583-chr7:121501026..121502712,2	K562	blood:
2	chr7:121500985..121503784-chr7:121505608..121507166,2	K562	blood:
3	chr7:121500985..121503784-chr7:121505608..121507166,2	K562	blood:
4	chr7:121487900..121489563-chr7:121492911..121495610,2	K562	blood:

Extended variants
information (count: 287 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145771194	chr7:121495451-121495452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538557371	chr7:121495461-121495462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555265320	chr7:121495479-121495480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12535129	chr7:121495548-121495549	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534355506	chr7:121495610-121495611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375114122	chr7:121495616-121495617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57075189	chr7:121495620-121495621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577258659	chr7:121495668-121495669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570302471	chr7:121495697-121495698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562522016	chr7:121495715-121495716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576001986	chr7:121495751-121495752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2402590	chr7:121495795-121495796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536252736	chr7:121495817-121495818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185789561	chr7:121495846-121495847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375238264	chr7:121495859-121495860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552912791	chr7:121495906-121495907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546773090	chr7:121495913-121495914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560033146	chr7:121495938-121495939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369577191	chr7:121495950-121495951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532209052	chr7:121495964-121495965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575727410	chr7:121498079-121498080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561746649	chr7:121498094-121498095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527257634	chr7:121498129-121498130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548079766	chr7:121498175-121498176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571011378	chr7:121498179-121498180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533396838	chr7:121498189-121498190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550718488	chr7:121498201-121498202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567631757	chr7:121498207-121498208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143399935	chr7:121498226-121498227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148365364	chr7:121498228-121498229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372840095	chr7:121498260-121498261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377231478	chr7:121498311-121498312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141162027	chr7:121498356-121498357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183104651	chr7:121498379-121498380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576491764	chr7:121498391-121498392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536516977	chr7:121498452-121498453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554078166	chr7:121498474-121498475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58082429	chr7:121498544-121498545	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs539674007	chr7:121498603-121498604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188134090	chr7:121498606-121498607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576270062	chr7:121498614-121498615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191730660	chr7:121498619-121498620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374416635	chr7:121498635-121498636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561580467	chr7:121498636-121498637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573192691	chr7:121498660-121498661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183191003	chr7:121498666-121498667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540658923	chr7:121498757-121498758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564485364	chr7:121498767-121498768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187479958	chr7:121498816-121498817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549993084	chr7:121498830-121498831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Renal cell carcinoma	18194544	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121495400-121496000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:121498000-121498200	Enhancers	Aorta	Aorta
3	chr7:121498000-121499000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:121498200-121499200	Weak transcription	Aorta	Aorta
5	chr7:121499000-121499400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:121499200-121499800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:121499200-121499800	Enhancers	Aorta	Aorta
8	chr7:121499400-121500000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:121499800-121500600	Weak transcription	Aorta	Aorta
10	chr7:121500600-121500800	Enhancers	Aorta	Aorta
11	chr7:121500800-121512800	Weak transcription	Aorta	Aorta
12	chr7:121502600-121502800	Enhancers	Fetal Brain Female	brain
13	chr7:121502800-121503400	Enhancers	Fetal Lung	lung
14	chr7:121503000-121503400	Enhancers	Fetal Brain Male	brain
15	chr7:121503400-121503600	Enhancers	Fetal Brain Female	brain
16	chr7:121503400-121504000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:121504000-121508400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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