Variant report

Variant	esv3331975
Chromosome Location	chr7:61224323-61252111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 809 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:809 , 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	rs541276556	chr7:61240806-61240807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs113277467	chr7:61240810-61240811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs28834985	chr7:61240817-61240818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs28846427	chr7:61240818-61240819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs200670540	chr7:61240838-61240839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs71250406	chr7:61240869-61240870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs9801116	chr7:61240880-61240881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs4557641	chr7:61240881-61240882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs28784052	chr7:61240885-61240886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs199729714	chr7:61240900-61240901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs578204920	chr7:61240901-61240902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs9801270	chr7:61240906-61240907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs4870594	chr7:61240912-61240913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs201847480	chr7:61240914-61240915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs199949537	chr7:61240928-61240929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs9801347	chr7:61240934-61240935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs200751777	chr7:61240940-61240941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs201683524	chr7:61240948-61240949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs28869232	chr7:61240952-61240953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545388231	chr7:61240962-61240963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs200894885	chr7:61240970-61240971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563660092	chr7:61240977-61240978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs141519704	chr7:61240981-61240982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs373677690	chr7:61241001-61241002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs71239499	chr7:61241002-61241003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs9801273	chr7:61241007-61241008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs371464986	chr7:61241008-61241009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs201901736	chr7:61241027-61241028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs146197220	chr7:61241028-61241029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs9801275	chr7:61241035-61241036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372354397	chr7:61241062-61241063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs4870592	chr7:61241067-61241068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs201055102	chr7:61241078-61241079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs4870591	chr7:61241091-61241092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs71267560	chr7:61241140-61241141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148670297	chr7:61241157-61241158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs369052398	chr7:61241162-61241163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs549492688	chr7:61241165-61241166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs201023413	chr7:61241168-61241169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs372621883	chr7:61241190-61241191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377435592	chr7:61241198-61241199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs142148164	chr7:61241199-61241200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201199116	chr7:61241608-61241609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs200458460	chr7:61241621-61241622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs62453341	chr7:61241628-61241629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs201702167	chr7:61241637-61241638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs149298792	chr7:61241653-61241654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs147415364	chr7:61241655-61241656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs568490181	chr7:61241667-61241668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs535885181	chr7:61241675-61241676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Autism	18414403	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Recurrent pregnancy loss	19789632	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61240800-61241200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr7:61241600-61242400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr7:61242200-61244000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:61242200-61244000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr7:61242800-61244000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr7:61243000-61243200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:61243400-61244000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr7:61243800-61244000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr7:61243800-61244000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:61243800-61244000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
11	chr7:61243800-61244000	ZNF genes & repeats	Fetal Brain Male	brain
12	chr7:61243800-61244000	Enhancers	Fetal Kidney	kidney
13	chr7:61244000-61246000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:61246000-61246200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood

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