Variant report

Variant	nsv606284
Chromosome Location	chr7:14594236-14619026
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:
2	chr7:14604134..14606678-chr7:14607555..14609898,2	K562	blood:

Extended variants
information (count: 983 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:983 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181859364	chr7:14595435-14595436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576803125	chr7:14595456-14595457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545399440	chr7:14595461-14595462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187277825	chr7:14595465-14595466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577724207	chr7:14595478-14595479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376893536	chr7:14595495-14595496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58487384	chr7:14595594-14595595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541496569	chr7:14595596-14595597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561353815	chr7:14595654-14595655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550476216	chr7:14595671-14595672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141843069	chr7:14595700-14595701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540612427	chr7:14595717-14595718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576430296	chr7:14595729-14595730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560838754	chr7:14595737-14595738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532804976	chr7:14595776-14595777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552611869	chr7:14595780-14595781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147121530	chr7:14595819-14595820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531862000	chr7:14595828-14595829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111597093	chr7:14595850-14595851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568197507	chr7:14595914-14595915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533978797	chr7:14595971-14595972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547421296	chr7:14595987-14595988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192031095	chr7:14595991-14595992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539315499	chr7:14595996-14595997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538524168	chr7:14596025-14596026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138657129	chr7:14596028-14596029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12538204	chr7:14596050-14596051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2116312	chr7:14596054-14596055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555434462	chr7:14596112-14596113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368664939	chr7:14596120-14596121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142721690	chr7:14596172-14596173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2163507	chr7:14596179-14596180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564594953	chr7:14596181-14596182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560438120	chr7:14596209-14596210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577625867	chr7:14596252-14596253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546489127	chr7:14596257-14596258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1560480	chr7:14596290-14596291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531721329	chr7:14596291-14596292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1012555	chr7:14596312-14596313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs180738510	chr7:14596315-14596316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562208665	chr7:14596397-14596398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78278028	chr7:14596401-14596402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150300350	chr7:14596434-14596435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371991273	chr7:14596448-14596449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1560481	chr7:14596480-14596481	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1560482	chr7:14596486-14596487	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549651067	chr7:14596511-14596512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551913150	chr7:14596546-14596547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569353749	chr7:14596574-14596575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571657848	chr7:14596605-14596606	Enhancers 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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14595400-14601400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:14596400-14597000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:14596400-14597200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:14596600-14597000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:14601400-14602800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr7:14601400-14603800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:14603200-14604200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr7:14603800-14624200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:14604200-14624000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:14606200-14606600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:14606600-14609200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:14610000-14621200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:14610400-14611000	Enhancers	Liver	Liver
14	chr7:14610400-14611400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr7:14610600-14611000	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr7:14616200-14622600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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