Variant report

Variant	nsv971512
Chromosome Location	chr7:109533828-109554358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:109524189..109525857-chr7:109531930..109534908,2	K562	blood:
2	chr7:109538440..109540413-chr7:109541881..109544620,2	K562	blood:
3	chr7:109538440..109540413-chr7:109541881..109544620,2	K562	blood:
4	chr7:109537859..109540413-chr7:109543120..109545714,2	K562	blood:
5	chr7:109537859..109540413-chr7:109543120..109545714,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541803059	chr7:109533853-109533854	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs190389909	chr7:109533873-109533874	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs181333517	chr7:109533878-109533879	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs544330557	chr7:109533925-109533926	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs543879201	chr7:109533997-109533998	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537809086	chr7:109535213-109535214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191571270	chr7:109535245-109535246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577664201	chr7:109535258-109535259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184787207	chr7:109535277-109535278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559504362	chr7:109535308-109535309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147145196	chr7:109535356-109535357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188503234	chr7:109535361-109535362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542038890	chr7:109535407-109535408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34479019	chr7:109535411-109535412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192983966	chr7:109535413-109535414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531117889	chr7:109535438-109535439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566790195	chr7:109535455-109535456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74352250	chr7:109535511-109535512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185687604	chr7:109535520-109535521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565026728	chr7:109535541-109535542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564353717	chr7:109535542-109535543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534819625	chr7:109535548-109535549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77822602	chr7:109535551-109535552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547083254	chr7:109535566-109535567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566995301	chr7:109535592-109535593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567330504	chr7:109535678-109535679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62478797	chr7:109535693-109535694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549209561	chr7:109535724-109535725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569123765	chr7:109535730-109535731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537797973	chr7:109535737-109535738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557713432	chr7:109535768-109535769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571188679	chr7:109535780-109535781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533557937	chr7:109535787-109535788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546615717	chr7:109535801-109535802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140246037	chr7:109535903-109535904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573402775	chr7:109535942-109535943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144352392	chr7:109535961-109535962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370334675	chr7:109535963-109535964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147378221	chr7:109535998-109535999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561968482	chr7:109541419-109541420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561049184	chr7:109541448-109541449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531015487	chr7:109541482-109541483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550760865	chr7:109541495-109541496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570977569	chr7:109541500-109541501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573104822	chr7:109541573-109541574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115396986	chr7:109541574-109541575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546858506	chr7:109541603-109541604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566771150	chr7:109541618-109541619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535414181	chr7:109541630-109541631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555330033	chr7:109541657-109541658	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109533200-109534000	Active TSS	A549	lung
2	chr7:109533400-109534000	Active TSS	Right Atrium	heart
3	chr7:109533400-109534000	Enhancers	Dnd41	blood
4	chr7:109533800-109534000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:109533800-109534000	Enhancers	Ovary	ovary
6	chr7:109533800-109534000	Enhancers	Hela-S3	cervix
7	chr7:109535200-109535400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:109535200-109536000	Enhancers	Pancreas	Pancrea
9	chr7:109535600-109536000	Enhancers	Gastric	stomach
10	chr7:109541400-109542400	Enhancers	Hela-S3	cervix
11	chr7:109541600-109542200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:109541600-109542800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:109541600-109542800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:109541600-109542800	Enhancers	NHDF-Ad	bronchial
15	chr7:109541800-109542400	Enhancers	NHEK	skin

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