Variant report

Variant	nsv1016543
Chromosome Location	chr7:118626169-118660614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:118629006..118631002-chr7:118732998..118734533,2	K562	blood:
2	chr7:118637455..118639784-chr7:118654717..118656624,2	K562	blood:
3	chr7:118646033..118648474-chr7:118650936..118653090,2	K562	blood:
4	chr7:118646033..118648474-chr7:118650936..118653090,2	K562	blood:
5	chr7:118654140..118657090-chr7:118659038..118660634,2	K562	blood:
6	chr7:118611978..118614798-chr7:118654699..118657373,2	K562	blood:
7	chr7:118635764..118637617-chr7:118641365..118644121,2	MCF-7	breast:
8	chr7:118658923..118660731-chr7:118674082..118677043,2	K562	blood:
9	chr7:118637455..118640247-chr7:118654338..118656624,3	K562	blood:
10	chr7:118635764..118637617-chr7:118641365..118644121,2	MCF-7	breast:
11	chr7:118637455..118640247-chr7:118654338..118656624,3	K562	blood:
12	chr7:118654140..118657090-chr7:118659038..118660634,2	K562	blood:
13	chr7:118637455..118639784-chr7:118654717..118656624,2	K562	blood:

No data

Extended variants
information (count: 389 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535321080	chr7:118635002-118635003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540120774	chr7:118635003-118635004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185183432	chr7:118635049-118635050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115804150	chr7:118635050-118635051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545788604	chr7:118635098-118635099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562680482	chr7:118635115-118635116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10480733	chr7:118635119-118635120	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148681356	chr7:118635129-118635130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190041145	chr7:118635181-118635182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528006344	chr7:118635255-118635256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375529227	chr7:118635351-118635352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11975840	chr7:118635402-118635403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73719612	chr7:118635414-118635415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566478865	chr7:118635444-118635445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7787447	chr7:118635459-118635460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182578189	chr7:118635482-118635483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371822662	chr7:118635506-118635507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569008172	chr7:118635512-118635513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12534310	chr7:118635554-118635555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7788041	chr7:118635574-118635575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574506283	chr7:118635578-118635579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79217744	chr7:118635652-118635653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553695882	chr7:118635674-118635675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576715944	chr7:118635690-118635691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545824293	chr7:118635773-118635774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562519763	chr7:118635833-118635834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576505577	chr7:118635835-118635836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555860801	chr7:118635904-118635905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115469731	chr7:118635923-118635924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575697579	chr7:118636000-118636001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367662875	chr7:118636023-118636024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547966898	chr7:118636060-118636061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116940457	chr7:118636082-118636083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10953887	chr7:118636083-118636084	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552223682	chr7:118636095-118636096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568835297	chr7:118636165-118636166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187270968	chr7:118636185-118636186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202171081	chr7:118636197-118636198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547929094	chr7:118636198-118636199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10275658	chr7:118636210-118636211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150603225	chr7:118636214-118636215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191584102	chr7:118636223-118636224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141813363	chr7:118636309-118636310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576753383	chr7:118636317-118636318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539321874	chr7:118636362-118636363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140724760	chr7:118636414-118636415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576320314	chr7:118636460-118636461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370395893	chr7:118636478-118636479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75927770	chr7:118636481-118636482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74812736	chr7:118636482-118636483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118635000-118636200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:118635200-118635600	Enhancers	Fetal Lung	lung
3	chr7:118635600-118637000	Weak transcription	Fetal Lung	lung
4	chr7:118637000-118637600	Enhancers	Fetal Lung	lung
5	chr7:118637600-118639000	Weak transcription	Fetal Lung	lung
6	chr7:118639000-118639400	Flanking Active TSS	Fetal Lung	lung
7	chr7:118639400-118640200	Enhancers	Fetal Lung	lung
8	chr7:118639800-118640400	Enhancers	Fetal Brain Male	brain
9	chr7:118646600-118647800	Enhancers	Fetal Brain Male	brain
10	chr7:118646600-118648400	Enhancers	Fetal Lung	lung
11	chr7:118656800-118657800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:118657000-118657200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:118657000-118657600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:118657000-118657800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:118657000-118657800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:118657200-118657600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr7:118657200-118657800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:118657200-118657800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:118657200-118657800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:118657200-118657800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:118657400-118657800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:118657600-118657800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:118657800-118666400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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