Variant report

Variant	nsv887709
Chromosome Location	chr7:14562957-14604898
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:14604134..14606678-chr7:14607555..14609898,2	K562	blood:

Extended variants
information (count: 475 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1367780	chr7:14562957-14562958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563462200	chr7:14562986-14562987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190340616	chr7:14562998-14562999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548608760	chr7:14563016-14563017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56334840	chr7:14563035-14563036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs528028210	chr7:14563036-14563037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1367781	chr7:14563045-14563046	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs571285212	chr7:14563120-14563121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73057442	chr7:14563158-14563159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182920103	chr7:14563165-14563166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74819978	chr7:14563213-14563214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570302304	chr7:14563230-14563231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78768100	chr7:14563246-14563247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188666268	chr7:14563253-14563254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572474464	chr7:14563272-14563273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534987976	chr7:14563282-14563283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536561224	chr7:14563287-14563288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138024102	chr7:14563288-14563289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs578038216	chr7:14563302-14563303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192991967	chr7:14563388-14563389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73285863	chr7:14563506-14563507	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12154477	chr7:14563565-14563566	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114089983	chr7:14563573-14563574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191514752	chr7:14584858-14584859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144365847	chr7:14584864-14584865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570856169	chr7:14584866-14584867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539878001	chr7:14584882-14584883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370069131	chr7:14584955-14584956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147830242	chr7:14584983-14584984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183301373	chr7:14584991-14584992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187017473	chr7:14585029-14585030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148894248	chr7:14585047-14585048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555220996	chr7:14585051-14585052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571741561	chr7:14585113-14585114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540613864	chr7:14585114-14585115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116949193	chr7:14585145-14585146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577667055	chr7:14585153-14585154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543461812	chr7:14585186-14585187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562954413	chr7:14585197-14585198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190721637	chr7:14585217-14585218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183232474	chr7:14585219-14585220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562361929	chr7:14585258-14585259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527735454	chr7:14585264-14585265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12666606	chr7:14585265-14585266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570785428	chr7:14585304-14585305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74674808	chr7:14585341-14585342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550221862	chr7:14585351-14585352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569779509	chr7:14585352-14585353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73287771	chr7:14585359-14585360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555282010	chr7:14585417-14585418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14561600-14563600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:14562800-14563200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:14584800-14585200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:14585200-14585800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:14585800-14586400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:14595400-14601400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:14596400-14597000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:14596400-14597200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:14596600-14597000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:14601400-14602800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr7:14601400-14603800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:14603200-14604200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr7:14603800-14624200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:14604200-14624000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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