Variant report

Variant	esv3347597
Chromosome Location	chr7:78694350-78711035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 198 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185856533	chr7:78701215-78701216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571269533	chr7:78701233-78701234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533937698	chr7:78701234-78701235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368868487	chr7:78701253-78701254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148631411	chr7:78701266-78701267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534886667	chr7:78701318-78701319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190571839	chr7:78701396-78701397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535290785	chr7:78701402-78701403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555566605	chr7:78701410-78701411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372425781	chr7:78701449-78701450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575595940	chr7:78701501-78701502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111417059	chr7:78701515-78701516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541704157	chr7:78703848-78703849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549683429	chr7:78703909-78703910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569283009	chr7:78703939-78703940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192782625	chr7:78703985-78703986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184078688	chr7:78704047-78704048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539147986	chr7:78704055-78704056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188560420	chr7:78704069-78704070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555267846	chr7:78704088-78704089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535216373	chr7:78704133-78704134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111494097	chr7:78704167-78704168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569259710	chr7:78704215-78704216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73369317	chr7:78704216-78704217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544094760	chr7:78704241-78704242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544209645	chr7:78704261-78704262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376950996	chr7:78704278-78704279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142021418	chr7:78704283-78704284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533045567	chr7:78704340-78704341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573063528	chr7:78704347-78704348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2041483	chr7:78704358-78704359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181310703	chr7:78704365-78704366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2041484	chr7:78704378-78704379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs150658970	chr7:78704379-78704380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528607729	chr7:78704394-78704395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139891999	chr7:78704398-78704399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185910869	chr7:78704439-78704440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529861115	chr7:78704459-78704460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148235159	chr7:78704478-78704479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549618221	chr7:78704532-78704533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569625402	chr7:78704539-78704540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531973210	chr7:78704542-78704543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60972123	chr7:78704569-78704570	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565744121	chr7:78704596-78704597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149259112	chr7:78704701-78704702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10251142	chr7:78704781-78704782	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147391004	chr7:78704799-78704800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537643311	chr7:78704845-78704846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200075614	chr7:78704913-78704914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557644684	chr7:78704919-78704920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Pancreatic cancer	17952125	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
Glioma	20126413	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78701200-78701600	Enhancers	Spleen	Spleen
2	chr7:78703800-78704200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:78704200-78707600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:78704400-78704800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:78707400-78708000	Enhancers	HepG2	liver
6	chr7:78707600-78709000	Enhancers	Pancreatic Islets	Pancreatic Islet

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