Variant report

Variant	esv3398795
Chromosome Location	chr7:58044310-58048508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 473 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191294717	chr7:58044330-58044331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202119892	chr7:58044343-58044344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113460172	chr7:58044483-58044484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143940951	chr7:58044484-58044485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181320239	chr7:58044519-58044520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372569850	chr7:58044561-58044562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548265271	chr7:58044572-58044573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376346575	chr7:58044573-58044574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533792313	chr7:58044580-58044581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185692377	chr7:58044607-58044608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551727158	chr7:58044626-58044627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570441466	chr7:58044662-58044663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34297176	chr7:58044672-58044673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190449497	chr7:58044681-58044682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555979408	chr7:58044720-58044721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574569560	chr7:58044766-58044767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535247822	chr7:58044833-58044834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs555052195	chr7:58044844-58044845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs112735847	chr7:58044846-58044847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs573219483	chr7:58044893-58044894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs540655357	chr7:58044894-58044895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs75128384	chr7:58044896-58044897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs373141493	chr7:58044921-58044922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs3987319	chr7:58044929-58044930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs112258924	chr7:58044941-58044942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs565260519	chr7:58044943-58044944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs577648139	chr7:58044945-58044946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs80185986	chr7:58044951-58044952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs544914805	chr7:58044958-58044959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs78062998	chr7:58044964-58044965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs541781947	chr7:58044965-58044966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78577227	chr7:58044966-58044967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs79588391	chr7:58044968-58044969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs78075571	chr7:58044971-58044972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs112352724	chr7:58044975-58044976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs79966358	chr7:58044977-58044978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs74884782	chr7:58044982-58044983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs200985781	chr7:58044985-58044986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs563123820	chr7:58044989-58044990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs78884128	chr7:58044990-58044991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs76653119	chr7:58044993-58044994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs74319209	chr7:58044997-58044998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs75337778	chr7:58045000-58045001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs555174336	chr7:58045017-58045018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs80088202	chr7:58045018-58045019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs75330963	chr7:58045032-58045033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs79387999	chr7:58045040-58045041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs560210082	chr7:58045050-58045051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs76988001	chr7:58045051-58045052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs77643216	chr7:58045060-58045061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
head and neck squamous cell carcinoma	17671120	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:58043000-58044800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:58043000-58044800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:58043000-58044800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:58044800-58054200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr7:58044800-58054400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:58044800-58054400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr7:58045000-58054200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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