Variant report

Variant	esv3393238
Chromosome Location	chr7:78843366-78844814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556709337	chr7:78843376-78843377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576607467	chr7:78843406-78843407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545587392	chr7:78843418-78843419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565538062	chr7:78843427-78843428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528009550	chr7:78843441-78843442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111823552	chr7:78843468-78843469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76714716	chr7:78843470-78843471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372208804	chr7:78843634-78843635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561295815	chr7:78843646-78843647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71531163	chr7:78843719-78843720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566672266	chr7:78843721-78843722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35975005	chr7:78843723-78843724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2536051	chr7:78843725-78843726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555155910	chr7:78843727-78843728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112557484	chr7:78843739-78843740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181340387	chr7:78843761-78843762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530196763	chr7:78843814-78843815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368190006	chr7:78843891-78843892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185815025	chr7:78843967-78843968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563804340	chr7:78844070-78844071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10235007	chr7:78844081-78844082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28797013	chr7:78844089-78844090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543754000	chr7:78844095-78844096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549232881	chr7:78844117-78844118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113452189	chr7:78844147-78844148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs848812	chr7:78844149-78844150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192295421	chr7:78844206-78844207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141073443	chr7:78844249-78844250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546972239	chr7:78844253-78844254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551254614	chr7:78844261-78844262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115464696	chr7:78844299-78844300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549399277	chr7:78844306-78844307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536343725	chr7:78844310-78844311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75530960	chr7:78844312-78844313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576096827	chr7:78844386-78844387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77468567	chr7:78844404-78844405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559219178	chr7:78844410-78844411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113927557	chr7:78844411-78844412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541782569	chr7:78844437-78844438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182551020	chr7:78844476-78844477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186948737	chr7:78844501-78844502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191723007	chr7:78844502-78844503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142905701	chr7:78844503-78844504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372670505	chr7:78844504-78844505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374822002	chr7:78844581-78844582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543806526	chr7:78844589-78844590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574304516	chr7:78844595-78844596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114213835	chr7:78844608-78844609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182774278	chr7:78844636-78844637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187248196	chr7:78844657-78844658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78842200-78847000	Weak transcription	Liver	Liver
2	chr7:78842400-78845400	Weak transcription	HepG2	liver
3	chr7:78844600-78845000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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