Variant report

Variant	nsv971153
Chromosome Location	chr7:14468435-14473759
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	chr7:14466276..14469939-chr7:14469961..14472647,3	K562	blood:
2	chr7:14466276..14469939-chr7:14469961..14472647,3	K562	blood:

Extended variants
information (count: 212 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:212 , 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	rs114842023	chr7:14468459-14468460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575923154	chr7:14468471-14468472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542033726	chr7:14468537-14468538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190813881	chr7:14468543-14468544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370896615	chr7:14468549-14468550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552431250	chr7:14468606-14468607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62443273	chr7:14468637-14468638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572170484	chr7:14468645-14468646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73280918	chr7:14468665-14468666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541187515	chr7:14468767-14468768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564522944	chr7:14468770-14468771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574877137	chr7:14468785-14468786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10281196	chr7:14468811-14468812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553971422	chr7:14468862-14468863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144286178	chr7:14468898-14468899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546149751	chr7:14468911-14468912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541880427	chr7:14468915-14468916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75765887	chr7:14468947-14468948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76739930	chr7:14469003-14469004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180804588	chr7:14469074-14469075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112013300	chr7:14469095-14469096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561480979	chr7:14469107-14469108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563024641	chr7:14469132-14469133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1431533	chr7:14469158-14469159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138894322	chr7:14469160-14469161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560349238	chr7:14469207-14469208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532589674	chr7:14469220-14469221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185201257	chr7:14469244-14469245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564017010	chr7:14469269-14469270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530554053	chr7:14469272-14469273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569217085	chr7:14469300-14469301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531836714	chr7:14469322-14469323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1835677	chr7:14469324-14469325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568352391	chr7:14469341-14469342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111983624	chr7:14469357-14469358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112489903	chr7:14469435-14469436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190021942	chr7:14469438-14469439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1835676	chr7:14469458-14469459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181266431	chr7:14469484-14469485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528660125	chr7:14469506-14469507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs63517161	chr7:14469549-14469550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150694131	chr7:14469553-14469554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200969898	chr7:14469554-14469555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201956623	chr7:14469556-14469557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs398003739	chr7:14469558-14469559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539088472	chr7:14469560-14469561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368322026	chr7:14469566-14469567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6947664	chr7:14469582-14469583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569648392	chr7:14469583-14469584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62443274	chr7:14469628-14469629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14465400-14470800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:14466800-14470600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:14470200-14471000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:14470400-14471000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:14470600-14470800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:14470600-14470800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:14470600-14473200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:14470800-14471000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:14471000-14471800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:14471000-14471800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:14471000-14472200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:14471000-14472400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:14471000-14472400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:14471200-14471600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:14471800-14472000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:14471800-14473200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:14472200-14472400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:14472400-14473000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:14472400-14473000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:14472400-14473000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:14472600-14473000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:14472600-14473000	Enhancers	Fetal Muscle Leg	muscle
23	chr7:14473200-14473400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:14473200-14479800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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