Variant report

Variant	nsv966807
Chromosome Location	chr7:61057367-61065438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146341405	chr7:61057457-61057458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370216673	chr7:61057458-61057459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62460222	chr7:61057468-61057469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183678261	chr7:61057471-61057472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12112476	chr7:61057497-61057498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200664612	chr7:61057511-61057512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12113164	chr7:61057515-61057516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200154237	chr7:61057518-61057519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113734503	chr7:61057606-61057607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202010110	chr7:61057607-61057608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201110346	chr7:61057660-61057661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201791764	chr7:61057671-61057672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35932137	chr7:61057680-61057681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560188341	chr7:61057682-61057683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527432937	chr7:61057701-61057702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200084033	chr7:61057733-61057734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200885905	chr7:61057743-61057744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201872407	chr7:61057751-61057752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551308174	chr7:61057762-61057763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12171618	chr7:61057786-61057787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536648429	chr7:61057796-61057797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12171611	chr7:61057807-61057808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12171629	chr7:61057813-61057814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9801381	chr7:61057821-61057822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201408951	chr7:61057868-61057869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566942551	chr7:61057882-61057883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116441514	chr7:61057891-61057892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558301623	chr7:61057898-61057899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73697660	chr7:61057903-61057904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371451786	chr7:61057921-61057922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146000051	chr7:61057927-61057928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78221133	chr7:61057930-61057931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79452859	chr7:61057938-61057939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80323264	chr7:61057942-61057943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74691567	chr7:61057946-61057947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73697661	chr7:61057947-61057948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79779829	chr7:61057948-61057949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572145297	chr7:61057959-61057960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369151869	chr7:61057965-61057966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565441423	chr7:61057995-61057996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556444995	chr7:61061600-61061601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs535996377	chr7:61061611-61061612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs149635933	chr7:61061616-61061617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs574699208	chr7:61061632-61061633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535702104	chr7:61061643-61061644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs9771253	chr7:61061649-61061650	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs114453262	chr7:61061668-61061669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs572445720	chr7:61061679-61061680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs545861808	chr7:61061687-61061688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs112387112	chr7:61061694-61061695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	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
Glioblastoma	21080181	CNVD
Autism	18414403	CNVD
Colorectal cancer	16272173	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61055800-61058000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:61055800-61058000	Weak transcription	Adipose Nuclei	Adipose
3	chr7:61061600-61062000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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