Variant report

Variant	nsv818485
Chromosome Location	chr7:14144663-14147902
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	chr7:14137681..14139670-chr7:14144330..14146165,2	K562	blood:

Extended variants
information (count: 167 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12533882	chr7:14144663-14144664	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534384493	chr7:14144666-14144667	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12531493	chr7:14144675-14144676	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577444566	chr7:14144696-14144697	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188663179	chr7:14144697-14144698	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12539162	chr7:14144728-14144729	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs143904580	chr7:14144757-14144758	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369065291	chr7:14144758-14144759	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117287364	chr7:14144815-14144816	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372101768	chr7:14144871-14144872	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572245249	chr7:14144875-14144876	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535115951	chr7:14144888-14144889	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17167865	chr7:14144899-14144900	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542659068	chr7:14144912-14144913	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181082235	chr7:14144913-14144914	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367634889	chr7:14144923-14144924	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73681620	chr7:14144929-14144930	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs148622551	chr7:14144975-14144976	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79563391	chr7:14145012-14145013	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528855571	chr7:14145040-14145041	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549041950	chr7:14145067-14145068	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565779234	chr7:14145078-14145079	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375837263	chr7:14145089-14145090	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185346223	chr7:14145094-14145095	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142107350	chr7:14145134-14145135	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370226195	chr7:14145148-14145149	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188145195	chr7:14145156-14145157	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377285709	chr7:14145162-14145163	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559661477	chr7:14145218-14145219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576337269	chr7:14145225-14145226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535445938	chr7:14145232-14145233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76684051	chr7:14145242-14145243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552024606	chr7:14145274-14145275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571588776	chr7:14145275-14145276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541482401	chr7:14145286-14145287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531047726	chr7:14145294-14145295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200584194	chr7:14145300-14145301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199875005	chr7:14145318-14145319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386710570	chr7:14145319-14145320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564445401	chr7:14145320-14145321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17749533	chr7:14145408-14145409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs76728672	chr7:14145444-14145445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374891924	chr7:14145480-14145481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563567109	chr7:14145507-14145508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529253663	chr7:14145571-14145572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182204839	chr7:14145576-14145577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559423639	chr7:14145593-14145594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528087441	chr7:14145599-14145600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563545752	chr7:14145603-14145604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551425661	chr7:14145621-14145622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14144400-14145200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:14144400-14145600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:14144600-14145000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:14144600-14145200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:14144600-14145200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:14144600-14145400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:14144600-14146400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:14144800-14145200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:14145200-14152600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:14145800-14146200	Enhancers	Cortex derived primary cultured neurospheres	brain

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