Variant report

Variant	esv3425609
Chromosome Location	chr7:57989610-57993808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 806 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:806 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564566184	chr7:57989627-57989628	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs535907881	chr7:57989631-57989632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs531634358	chr7:57989638-57989639	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs543780815	chr7:57989639-57989640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs561896794	chr7:57989657-57989658	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs529613411	chr7:57989658-57989659	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs547637310	chr7:57989673-57989674	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541901434	chr7:57989680-57989681	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs145229004	chr7:57989691-57989692	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs533339381	chr7:57989709-57989710	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs147604699	chr7:57989728-57989729	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs183756471	chr7:57989756-57989757	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs200783345	chr7:57989772-57989773	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs201827160	chr7:57989785-57989786	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs569718524	chr7:57989791-57989792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs112457528	chr7:57989796-57989797	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs576437917	chr7:57989797-57989798	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs140437992	chr7:57989798-57989799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs555364822	chr7:57989812-57989813	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs553693456	chr7:57989814-57989815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374888008	chr7:57989815-57989816	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs567105947	chr7:57989842-57989843	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs145653792	chr7:57989846-57989847	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs112048393	chr7:57989847-57989848	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs553297871	chr7:57989853-57989854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs113030558	chr7:57989854-57989855	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs545199942	chr7:57989855-57989856	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs558002505	chr7:57989878-57989879	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs576495243	chr7:57989879-57989880	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs543521172	chr7:57989882-57989883	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs34658126	chr7:57989890-57989891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs562115378	chr7:57989898-57989899	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs529209425	chr7:57989900-57989901	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs541365584	chr7:57989914-57989915	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs559597876	chr7:57989923-57989924	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs9918585	chr7:57989927-57989928	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551575986	chr7:57989939-57989940	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570123237	chr7:57989964-57989965	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs200649677	chr7:57989985-57989986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201327055	chr7:57989994-57989995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs199984408	chr7:57990003-57990004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs548765247	chr7:57990008-57990009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs567297030	chr7:57990015-57990016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs373597968	chr7:57990017-57990018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs534600123	chr7:57990019-57990020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs553328845	chr7:57990021-57990022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs571547044	chr7:57990023-57990024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs9918636	chr7:57990032-57990033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs111876966	chr7:57990049-57990050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs371843424	chr7:57990060-57990061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
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
Endometrioid adenocarcinoma	16974079	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
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Medulloblastoma	21163964	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57945200-58001800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr7:57959600-58001600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:57970600-58002000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr7:57979000-58001800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr7:57986800-57990000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:57990000-57990600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:57990600-57994000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:57990800-57996400	ZNF genes & repeats	Primary T cells from cord blood	blood
9	chr7:57992200-57996000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:57992400-57996600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr7:57992600-57996200	ZNF genes & repeats	Liver	Liver
12	chr7:57993200-57996000	ZNF genes & repeats	Primary B cells from cord blood	blood
13	chr7:57993800-57994600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:57993800-57996400	ZNF genes & repeats	HepG2	liver

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