Variant report

Variant	esv3377296
Chromosome Location	chr7:61086810-61105308
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2173 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2173 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201505189	chr7:61086813-61086814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202245630	chr7:61086857-61086858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200345872	chr7:61086869-61086870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190701022	chr7:61086932-61086933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199640775	chr7:61086961-61086962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200620798	chr7:61086990-61086991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542216163	chr7:61087002-61087003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201747314	chr7:61087030-61087031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534884916	chr7:61087033-61087034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552995157	chr7:61087059-61087060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199545935	chr7:61087080-61087081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57136471	chr7:61087120-61087121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201834294	chr7:61087122-61087123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545012984	chr7:61087179-61087180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371578123	chr7:61087180-61087181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557044442	chr7:61087196-61087197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199965945	chr7:61087215-61087216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200773211	chr7:61087235-61087236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201612476	chr7:61087245-61087246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542780232	chr7:61087281-61087282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199943022	chr7:61087287-61087288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201133070	chr7:61087293-61087294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202242905	chr7:61087333-61087334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199887140	chr7:61087350-61087351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10274180	chr7:61087364-61087365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs201997029	chr7:61087365-61087366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529488476	chr7:61087378-61087379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148813420	chr7:61087389-61087390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201681494	chr7:61087398-61087399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559802164	chr7:61087428-61087429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192957762	chr7:61087444-61087445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551356803	chr7:61087449-61087450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569742400	chr7:61087464-61087465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151089898	chr7:61087475-61087476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563944077	chr7:61087478-61087479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112837360	chr7:61087497-61087498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534527517	chr7:61087498-61087499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146960816	chr7:61087507-61087508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183607680	chr7:61087512-61087513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113426595	chr7:61087518-61087519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538964087	chr7:61087521-61087522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199836149	chr7:61087525-61087526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556983105	chr7:61087528-61087529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368185181	chr7:61087531-61087532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575329846	chr7:61087532-61087533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs137875702	chr7:61087541-61087542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188321009	chr7:61087542-61087543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574134925	chr7:61087565-61087566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576868197	chr7:61087587-61087588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141987500	chr7:61087590-61087591	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:93 , 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	chr7:61086000-61087600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:61086000-61087600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:61086000-61087800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:61086000-61087800	Weak transcription	Liver	Liver
11	chr7:61086000-61088000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:61086200-61087600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:61087600-61090800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr7:61087600-61098000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr7:61087800-61088200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:61087800-61089200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:61087800-61090200	ZNF genes & repeats	Liver	Liver
18	chr7:61087800-61098000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr7:61088000-61088200	Strong transcription	HUVEC	blood vessel
20	chr7:61088000-61088600	ZNF genes & repeats	Fetal Heart	heart
21	chr7:61088000-61088800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr7:61088000-61092400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:61088200-61088600	ZNF genes & repeats	HUVEC	blood vessel
24	chr7:61088200-61088800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
25	chr7:61090000-61090400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr7:61090000-61090400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
27	chr7:61090000-61090600	ZNF genes & repeats	HUVEC	blood vessel
28	chr7:61091400-61091800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr7:61091400-61098000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
30	chr7:61091600-61092000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr7:61091800-61092000	ZNF genes & repeats	Colon Smooth Muscle	Colon
32	chr7:61091800-61092000	ZNF genes & repeats	HUVEC	blood vessel
33	chr7:61092200-61099600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:61093800-61097200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:61095400-61095600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
36	chr7:61095400-61095600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
37	chr7:61095400-61095600	ZNF genes & repeats	Fetal Lung	lung
38	chr7:61095400-61097000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:61096400-61097000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:61096600-61098000	ZNF genes & repeats	Liver	Liver
41	chr7:61097000-61099400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:61097200-61097800	ZNF genes & repeats	Psoas Muscle	Psoas
43	chr7:61097400-61098000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
44	chr7:61097600-61098000	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr7:61097600-61098000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
46	chr7:61097800-61099200	Weak transcription	Psoas Muscle	Psoas
47	chr7:61098000-61099200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:61098000-61099400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:61098000-61099400	Weak transcription	Liver	Liver
50	chr7:61098000-61099400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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