Variant report

Variant	esv3394002
Chromosome Location	chr7:61086010-61104408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2245 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2245 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553531401	chr7:61086010-61086011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113044563	chr7:61086011-61086012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140033673	chr7:61086020-61086021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553921263	chr7:61086021-61086022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201117849	chr7:61086038-61086039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187887754	chr7:61086061-61086062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202179203	chr7:61086069-61086070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191548618	chr7:61086077-61086078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111601167	chr7:61086088-61086089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9768834	chr7:61086091-61086092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs200238613	chr7:61086096-61086097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201237353	chr7:61086116-61086117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199591121	chr7:61086135-61086136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200450170	chr7:61086139-61086140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111264061	chr7:61086154-61086155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186673128	chr7:61086156-61086157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543282780	chr7:61086165-61086166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199545500	chr7:61086176-61086177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573515579	chr7:61086178-61086179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373233315	chr7:61086191-61086192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9691379	chr7:61086201-61086202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80199199	chr7:61086216-61086217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201208693	chr7:61086222-61086223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559131366	chr7:61086236-61086237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533023240	chr7:61086245-61086246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199706277	chr7:61086255-61086256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551534737	chr7:61086256-61086257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564642650	chr7:61086294-61086295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531946159	chr7:61086300-61086301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184678525	chr7:61086325-61086326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181070022	chr7:61086337-61086338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568728678	chr7:61086351-61086352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9691982	chr7:61086357-61086358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113828888	chr7:61086365-61086366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113730880	chr7:61086391-61086392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200016723	chr7:61086400-61086401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565977002	chr7:61086401-61086402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539509880	chr7:61086414-61086415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557849488	chr7:61086419-61086420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201821829	chr7:61086420-61086421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200783018	chr7:61086428-61086429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575782730	chr7:61086435-61086436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536856389	chr7:61086470-61086471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202071961	chr7:61086492-61086493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555182029	chr7:61086501-61086502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199899374	chr7:61086502-61086503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573875088	chr7:61086507-61086508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371949145	chr7:61086510-61086511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201030290	chr7:61086511-61086512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113808938	chr7:61086518-61086519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61085400-61087800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:61085400-61093200	Weak transcription	K562	blood
3	chr7:61085800-61088000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:61085800-61088000	Weak transcription	Fetal Heart	heart
5	chr7:61085800-61088000	Weak transcription	HUVEC	blood vessel
6	chr7:61085800-61088200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:61086000-61086400	Weak transcription	NH-A	brain
8	chr7:61086000-61087600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:61086000-61087600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:61086000-61087800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:61086000-61087800	Weak transcription	Liver	Liver
12	chr7:61086000-61088000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:61086200-61087600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:61087600-61090800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr7:61087600-61098000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr7:61087800-61088200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:61087800-61089200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:61087800-61090200	ZNF genes & repeats	Liver	Liver
19	chr7:61087800-61098000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr7:61088000-61088200	Strong transcription	HUVEC	blood vessel
21	chr7:61088000-61088600	ZNF genes & repeats	Fetal Heart	heart
22	chr7:61088000-61088800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr7:61088000-61092400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:61088200-61088600	ZNF genes & repeats	HUVEC	blood vessel
25	chr7:61088200-61088800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
26	chr7:61090000-61090400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr7:61090000-61090400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
28	chr7:61090000-61090600	ZNF genes & repeats	HUVEC	blood vessel
29	chr7:61091400-61091800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr7:61091400-61098000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr7:61091600-61092000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr7:61091800-61092000	ZNF genes & repeats	Colon Smooth Muscle	Colon
33	chr7:61091800-61092000	ZNF genes & repeats	HUVEC	blood vessel
34	chr7:61092200-61099600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:61093800-61097200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:61095400-61095600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
37	chr7:61095400-61095600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
38	chr7:61095400-61095600	ZNF genes & repeats	Fetal Lung	lung
39	chr7:61095400-61097000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:61096400-61097000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:61096600-61098000	ZNF genes & repeats	Liver	Liver
42	chr7:61097000-61099400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:61097200-61097800	ZNF genes & repeats	Psoas Muscle	Psoas
44	chr7:61097400-61098000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
45	chr7:61097600-61098000	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr7:61097600-61098000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
47	chr7:61097800-61099200	Weak transcription	Psoas Muscle	Psoas
48	chr7:61098000-61099200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:61098000-61099400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:61098000-61099400	Weak transcription	Liver	Liver

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