Variant report

Variant	esv3385413
Chromosome Location	chr7:14131261-14153244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:14140015..14142063-chr7:14149644..14151263,2	K562	blood:
2	chr7:14137681..14139670-chr7:14144330..14146165,2	K562	blood:
3	chr7:14139084..14141319-chr7:14141372..14143877,3	K562	blood:
4	chr7:14137681..14139670-chr7:14144330..14146165,2	K562	blood:
5	chr7:14140015..14142063-chr7:14149644..14151263,2	K562	blood:
6	chr7:14139084..14141319-chr7:14141372..14143877,3	K562	blood:

Extended variants
information (count: 577 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550773683	chr7:14131806-14131807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17167853	chr7:14131817-14131818	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs117084687	chr7:14131825-14131826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553074488	chr7:14131838-14131839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371455085	chr7:14131841-14131842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141400185	chr7:14131861-14131862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560544171	chr7:14131875-14131876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539055685	chr7:14131888-14131889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10262668	chr7:14131934-14131935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10262669	chr7:14131936-14131937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74839129	chr7:14131945-14131946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139935244	chr7:14131968-14131969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544375224	chr7:14132027-14132028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561182793	chr7:14132037-14132038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574635325	chr7:14132049-14132050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540555190	chr7:14132091-14132092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536156708	chr7:14132113-14132114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79405262	chr7:14132119-14132120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559872395	chr7:14132130-14132131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532104995	chr7:14132146-14132147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532772547	chr7:14132179-14132180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562205339	chr7:14132191-14132192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531310397	chr7:14132198-14132199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116730329	chr7:14134853-14134854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548971981	chr7:14134878-14134879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537971648	chr7:14134905-14134906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10282485	chr7:14134912-14134913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs10282588	chr7:14134940-14134941	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369133375	chr7:14134945-14134946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372913715	chr7:14134986-14134987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557795716	chr7:14135039-14135040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574576604	chr7:14135040-14135041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534242231	chr7:14135042-14135043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17167855	chr7:14135077-14135078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537187811	chr7:14135078-14135079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556771182	chr7:14135092-14135093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138627178	chr7:14135110-14135111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542422666	chr7:14135116-14135117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559445266	chr7:14135131-14135132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562200289	chr7:14135210-14135211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572710821	chr7:14135235-14135236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541020117	chr7:14135255-14135256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149326668	chr7:14135261-14135262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533232860	chr7:14135262-14135263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386710568	chr7:14135278-14135279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543546381	chr7:14135279-14135280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563821026	chr7:14135314-14135315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529050945	chr7:14135322-14135323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549163982	chr7:14135334-14135335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565795790	chr7:14135336-14135337	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14131800-14132200	Enhancers	Fetal Heart	heart
2	chr7:14134800-14136000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:14136000-14137400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:14137800-14138000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:14144400-14145200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:14144400-14145600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:14144600-14145000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:14144600-14145200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:14144600-14145200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:14144600-14145400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:14144600-14146400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:14144800-14145200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:14145200-14152600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:14145800-14146200	Enhancers	Cortex derived primary cultured neurospheres	brain

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