Variant report

Variant	nsv606280
Chromosome Location	chr7:14327966-14352001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:14324239..14326244-chr7:14344678..14347270,2	K562	blood:
2	chr7:14334768..14337189-chr7:14339117..14342040,2	K562	blood:
3	chr7:14334768..14337189-chr7:14339117..14342040,2	K562	blood:
4	chr7:14340090..14342921-chr7:14345436..14348382,2	K562	blood:
5	chr7:14340090..14342921-chr7:14345436..14348382,2	K562	blood:

Extended variants
information (count: 363 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:363 , 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	rs7785249	chr7:14327966-14327967	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549560646	chr7:14327982-14327983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35841268	chr7:14328009-14328010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186606435	chr7:14328068-14328069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191060032	chr7:14328108-14328109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527754719	chr7:14328123-14328124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565480084	chr7:14328172-14328173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182955307	chr7:14328191-14328192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564094079	chr7:14328256-14328257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533281512	chr7:14328270-14328271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549763903	chr7:14328322-14328323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527428073	chr7:14328327-14328328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17168044	chr7:14328329-14328330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535484909	chr7:14328351-14328352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547504330	chr7:14328355-14328356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76990998	chr7:14328357-14328358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185879869	chr7:14328431-14328432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539396429	chr7:14328432-14328433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370188064	chr7:14328456-14328457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78706329	chr7:14328483-14328484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368258739	chr7:14328509-14328510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549483724	chr7:14328512-14328513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570908973	chr7:14328519-14328520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569948546	chr7:14328535-14328536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540132806	chr7:14328600-14328601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556622619	chr7:14328618-14328619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576323091	chr7:14328629-14328630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12669366	chr7:14328636-14328637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535348526	chr7:14328663-14328664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139436060	chr7:14328763-14328764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183223515	chr7:14328769-14328770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541140287	chr7:14328772-14328773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114923417	chr7:14328831-14328832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377115282	chr7:14328840-14328841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564310234	chr7:14328848-14328849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532944747	chr7:14328869-14328870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543594299	chr7:14328903-14328904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369185582	chr7:14328960-14328961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563621682	chr7:14329009-14329010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187547435	chr7:14329036-14329037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549015132	chr7:14329037-14329038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372708994	chr7:14329055-14329056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75259695	chr7:14329245-14329246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551147282	chr7:14329258-14329259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571308686	chr7:14329261-14329262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539690416	chr7:14329327-14329328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3067647	chr7:14329370-14329371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79871300	chr7:14329384-14329385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs57290907	chr7:14329386-14329387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573923321	chr7:14329387-14329388	Enhancers	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14327200-14329800	Enhancers	Fetal Heart	heart
2	chr7:14328000-14328600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:14328000-14329200	Enhancers	Fetal Lung	lung
4	chr7:14328200-14328600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:14328200-14328600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:14328400-14328600	Enhancers	Esophagus	oesophagus
7	chr7:14332400-14332600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr7:14332400-14333000	Enhancers	Fetal Intestine Small	intestine
9	chr7:14332600-14333600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:14333200-14333400	Enhancers	Fetal Intestine Large	intestine
11	chr7:14333600-14334200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr7:14334000-14334200	Enhancers	Fetal Intestine Large	intestine
13	chr7:14334600-14334800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr7:14334800-14335200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:14338200-14339000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:14343400-14343600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:14343400-14344800	Enhancers	Fetal Heart	heart
18	chr7:14343800-14345200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:14344800-14345200	Flanking Active TSS	Fetal Heart	heart
20	chr7:14344800-14345400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:14344800-14345400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:14345200-14345400	Enhancers	Left Ventricle	heart
23	chr7:14345200-14345600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:14345200-14345600	Enhancers	Fetal Heart	heart
25	chr7:14345600-14346400	Weak transcription	Fetal Heart	heart
26	chr7:14346400-14347200	Enhancers	Fetal Heart	heart

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