Variant report

Variant	esv3420949
Chromosome Location	chr7:69541712-69542951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562922466	chr7:69541726-69541727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565489326	chr7:69541800-69541801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551989683	chr7:69541886-69541887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146140067	chr7:69542001-69542002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528016669	chr7:69542005-69542006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183324131	chr7:69542026-69542027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567733111	chr7:69542039-69542040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535038530	chr7:69542128-69542129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550159742	chr7:69542161-69542162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568652851	chr7:69542182-69542183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539146843	chr7:69542205-69542206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35460566	chr7:69542206-69542207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398005098	chr7:69542208-69542209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557962965	chr7:69542214-69542215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541565547	chr7:69542232-69542233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188566805	chr7:69542249-69542250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148259554	chr7:69542279-69542280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555331060	chr7:69542281-69542282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193132385	chr7:69542294-69542295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544661116	chr7:69542311-69542312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10156142	chr7:69542319-69542320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs578168438	chr7:69542342-69542343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79370592	chr7:69542368-69542369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560758840	chr7:69542370-69542371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141248282	chr7:69542408-69542409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543309877	chr7:69542427-69542428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561293211	chr7:69542448-69542449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531875071	chr7:69542458-69542459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150332980	chr7:69542500-69542501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184866853	chr7:69542504-69542505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533071922	chr7:69542530-69542531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371381590	chr7:69542564-69542565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551159210	chr7:69542603-69542604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34329074	chr7:69542608-69542609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188454954	chr7:69542618-69542619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137965198	chr7:69542648-69542649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559217536	chr7:69542668-69542669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549254036	chr7:69542713-69542714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567605769	chr7:69542726-69542727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191240177	chr7:69542733-69542734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556622010	chr7:69542736-69542737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184206922	chr7:69542741-69542742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545499537	chr7:69542745-69542746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145924027	chr7:69542759-69542760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188537638	chr7:69542771-69542772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542893789	chr7:69542773-69542774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577267688	chr7:69542794-69542795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569007817	chr7:69542810-69542811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35703608	chr7:69542832-69542833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531910780	chr7:69542833-69542834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69529400-69544800	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69537600-69547600	Weak transcription	Ovary	ovary
3	chr7:69537800-69546000	Weak transcription	Fetal Stomach	stomach
4	chr7:69537800-69546600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:69537800-69546800	Weak transcription	Fetal Brain Male	brain
6	chr7:69538400-69543600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:69541000-69548200	Weak transcription	Psoas Muscle	Psoas
8	chr7:69542800-69544800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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