Variant report

Variant	nsv608076
Chromosome Location	chr7:109064120-109098364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:109089263..109091879-chr7:109094627..109097378,2	K562	blood:
2	chr6:159978197..159978767-chr7:109093225..109094180,2	MCF-7	breast:
3	chr7:109089263..109091879-chr7:109094627..109097378,2	K562	blood:
4	chr7:109098121..109100092-chr7:109106238..109108912,2	MCF-7	breast:

Extended variants
information (count: 215 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541172067	chr7:109065841-109065842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190836549	chr7:109065856-109065857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529725916	chr7:109065867-109065868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549717980	chr7:109065895-109065896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77062123	chr7:109065909-109065910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182621043	chr7:109065910-109065911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552173367	chr7:109065919-109065920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565580269	chr7:109065921-109065922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs67053880	chr7:109065942-109065943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547493142	chr7:109065949-109065950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73198434	chr7:109065951-109065952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536271880	chr7:109065993-109065994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114420537	chr7:109066005-109066006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576339993	chr7:109066015-109066016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75974713	chr7:109066030-109066031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75822192	chr7:109066111-109066112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188136033	chr7:109066112-109066113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541600009	chr7:109066113-109066114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143079112	chr7:109066128-109066129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541439358	chr7:109066133-109066134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574448385	chr7:109066144-109066145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543129659	chr7:109066150-109066151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549210549	chr7:109066212-109066213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561217677	chr7:109066264-109066265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148352118	chr7:109066286-109066287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141500868	chr7:109066368-109066369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546126740	chr7:109066385-109066386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559180897	chr7:109066395-109066396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528285465	chr7:109066398-109066399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538739958	chr7:109078606-109078607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558326817	chr7:109078697-109078698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572023385	chr7:109078712-109078713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148390291	chr7:109078724-109078725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558259973	chr7:109078728-109078729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76346273	chr7:109078736-109078737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79895881	chr7:109078769-109078770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543305244	chr7:109078871-109078872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145140006	chr7:109078890-109078891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115318614	chr7:109078894-109078895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551471540	chr7:109078899-109078900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147579677	chr7:109078901-109078902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73713675	chr7:109078912-109078913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547506636	chr7:109078935-109078936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573603625	chr7:109078936-109078937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567638764	chr7:109078955-109078956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536991289	chr7:109079002-109079003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112132670	chr7:109079005-109079006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550448540	chr7:109079102-109079103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540789354	chr7:109079142-109079143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185791748	chr7:109080435-109080436	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Acute myeloid leukemia	16864856	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109065800-109066400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr7:109065800-109066400	Enhancers	Pancreas	Pancrea
3	chr7:109078600-109079200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:109080400-109080600	Enhancers	Gastric	stomach
5	chr7:109092200-109092400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:109092400-109095200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:109095200-109095600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:109095600-109096000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:109096000-109096200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:109096000-109096400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:109096200-109096600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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