Variant report

Variant	esv3404926
Chromosome Location	chr7:14606477-14607825
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: 73 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78173557	chr7:14606495-14606496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs80181282	chr7:14606544-14606545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567758465	chr7:14606556-14606557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147294331	chr7:14606565-14606566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192077776	chr7:14606566-14606567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566654424	chr7:14606585-14606586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184627213	chr7:14606594-14606595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558809510	chr7:14606598-14606599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575401110	chr7:14606603-14606604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148777563	chr7:14606617-14606618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187768314	chr7:14606622-14606623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192520593	chr7:14606676-14606677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571452476	chr7:14606687-14606688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539920702	chr7:14606689-14606690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201026670	chr7:14606691-14606692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71712449	chr7:14606692-14606693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28451478	chr7:14606706-14606707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28737425	chr7:14606741-14606742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28681438	chr7:14606749-14606750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536918374	chr7:14606758-14606759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569769620	chr7:14606765-14606766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573094958	chr7:14606773-14606774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185863026	chr7:14606790-14606791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28488853	chr7:14606791-14606792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28373732	chr7:14606799-14606800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28573089	chr7:14606800-14606801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372433863	chr7:14606801-14606802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565577613	chr7:14606804-14606805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531071472	chr7:14606810-14606811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189128811	chr7:14606819-14606820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7457848	chr7:14606848-14606849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28727910	chr7:14606849-14606850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184656437	chr7:14606874-14606875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565685719	chr7:14606888-14606889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568238983	chr7:14606906-14606907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550968897	chr7:14606908-14606909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188626251	chr7:14606915-14606916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181418471	chr7:14606929-14606930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7457862	chr7:14606963-14606964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7455839	chr7:14606969-14606970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7457863	chr7:14606970-14606971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372051516	chr7:14607050-14607051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373883403	chr7:14607051-14607052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71004313	chr7:14607074-14607075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185902084	chr7:14607102-14607103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190711561	chr7:14607117-14607118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182093070	chr7:14607124-14607125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577240186	chr7:14607219-14607220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376210726	chr7:14607220-14607221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566717754	chr7:14607221-14607222	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14603800-14624200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:14604200-14624000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:14606200-14606600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:14606600-14609200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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