Variant report

Variant	esv3450079
Chromosome Location	chr7:117846216-117848114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:117843570..117846534-chr7:117849608..117851208,2	K562	blood:
2	chr7:117845682..117847702-chr7:117872075..117874755,2	K562	blood:
3	chr7:117841858..117844215-chr7:117844744..117847374,2	K562	blood:
4	chr7:117821578..117823325-chr7:117847731..117849389,2	K562	blood:
5	chr7:117842197..117843985-chr7:117846070..117847812,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532357248	chr7:117846225-117846226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114945980	chr7:117846262-117846263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73205565	chr7:117846290-117846291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201992153	chr7:117846338-117846339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201577407	chr7:117846343-117846344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186166367	chr7:117846350-117846351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190688001	chr7:117846358-117846359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554626299	chr7:117846423-117846424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566175933	chr7:117846511-117846512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533534898	chr7:117846513-117846514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138726819	chr7:117846514-117846515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577867082	chr7:117846527-117846528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545601978	chr7:117846537-117846538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557241399	chr7:117846604-117846605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575781527	chr7:117846653-117846654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542783898	chr7:117846654-117846655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561366808	chr7:117846692-117846693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80215759	chr7:117846782-117846783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184178886	chr7:117846795-117846796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565181436	chr7:117846823-117846824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114374441	chr7:117846846-117846847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187846199	chr7:117846847-117846848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568985182	chr7:117846851-117846852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529893916	chr7:117846871-117846872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530219891	chr7:117846903-117846904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554550375	chr7:117846962-117846963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199854087	chr7:117847024-117847025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59090187	chr7:117847051-117847052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373555178	chr7:117847053-117847054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376532034	chr7:117847058-117847059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111413455	chr7:117847070-117847071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200974120	chr7:117847074-117847075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56659827	chr7:117847077-117847078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs5002232	chr7:117847110-117847111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs570217907	chr7:117847177-117847178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs5002233	chr7:117847220-117847221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs142782188	chr7:117847274-117847275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558099339	chr7:117847331-117847332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183075443	chr7:117847334-117847335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539000300	chr7:117847338-117847339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557613536	chr7:117847339-117847340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575795958	chr7:117847368-117847369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543199003	chr7:117847445-117847446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62466518	chr7:117847454-117847455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs10487389	chr7:117847460-117847461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs373530631	chr7:117847471-117847472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540653209	chr7:117847476-117847477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565246088	chr7:117847522-117847523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75200792	chr7:117847573-117847574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544225939	chr7:117847580-117847581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117833000-117854000	Weak transcription	HSMM	muscle
2	chr7:117833600-117854000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:117846400-117846600	Enhancers	HSMMtube	muscle

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