Variant report

Variant	esv3321995
Chromosome Location	chr7:110031716-110032764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376883213	chr7:110031763-110031764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529909310	chr7:110031766-110031767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541028246	chr7:110031822-110031823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146285126	chr7:110031857-110031858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190122014	chr7:110031867-110031868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10215897	chr7:110031901-110031902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563313946	chr7:110031902-110031903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532354531	chr7:110031905-110031906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10215898	chr7:110031940-110031941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565785314	chr7:110031977-110031978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528243218	chr7:110031992-110031993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117662319	chr7:110032013-110032014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183253761	chr7:110032029-110032030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568082274	chr7:110032031-110032032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375052142	chr7:110032049-110032050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10215907	chr7:110032053-110032054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60136528	chr7:110032054-110032055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10234304	chr7:110032055-110032056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571280507	chr7:110032057-110032058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371262788	chr7:110032065-110032066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113543094	chr7:110032072-110032073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10215200	chr7:110032073-110032074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536523664	chr7:110032077-110032078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556838009	chr7:110032079-110032080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6978522	chr7:110032092-110032093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71149580	chr7:110032097-110032098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6978800	chr7:110032099-110032100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6978801	chr7:110032101-110032102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28577895	chr7:110032103-110032104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112742576	chr7:110032107-110032108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372626590	chr7:110032130-110032131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370949455	chr7:110032132-110032133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71149581	chr7:110032134-110032135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376223982	chr7:110032137-110032138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369285043	chr7:110032139-110032140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373740043	chr7:110032159-110032160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375567853	chr7:110032161-110032162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10279661	chr7:110032166-110032167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28645204	chr7:110032167-110032168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28640103	chr7:110032170-110032171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10279665	chr7:110032172-110032173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28661630	chr7:110032176-110032177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10279758	chr7:110032182-110032183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10264051	chr7:110032184-110032185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10264052	chr7:110032186-110032187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11275073	chr7:110032214-110032215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558578786	chr7:110032263-110032264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139422507	chr7:110032315-110032316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13233752	chr7:110032330-110032331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556602671	chr7:110032339-110032340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110028600-110055200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:110030000-110035600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:110030400-110031800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:110031200-110050600	Weak transcription	Dnd41	blood
5	chr7:110032400-110032600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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