Variant report

Variant	esv3428991
Chromosome Location	chr7:83941216-83944164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537389540	chr7:83941232-83941233	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs549277140	chr7:83941240-83941241	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs73711516	chr7:83941295-83941296	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs9987045	chr7:83941300-83941301	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530164063	chr7:83941347-83941348	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189263459	chr7:83941364-83941365	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs578000863	chr7:83941398-83941399	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs531379518	chr7:83941401-83941402	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs369150061	chr7:83941408-83941409	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs73711517	chr7:83941523-83941524	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149583453	chr7:83941599-83941600	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544749773	chr7:83941612-83941613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575432872	chr7:83941618-83941619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112480782	chr7:83941637-83941638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75080499	chr7:83941639-83941640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372424028	chr7:83941641-83941642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564627081	chr7:83941650-83941651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527297178	chr7:83941705-83941706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182212655	chr7:83941727-83941728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144311218	chr7:83941759-83941760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540620619	chr7:83941817-83941818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77087305	chr7:83941824-83941825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559407853	chr7:83941838-83941839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71558724	chr7:83941841-83941842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551452427	chr7:83941876-83941877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73386906	chr7:83941903-83941904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs187379399	chr7:83941925-83941926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28578371	chr7:83941950-83941951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190620659	chr7:83941953-83941954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567541357	chr7:83941963-83941964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149780456	chr7:83942003-83942004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535022425	chr7:83942027-83942028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199689991	chr7:83942053-83942054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148235395	chr7:83942068-83942069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571607790	chr7:83942112-83942113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568965980	chr7:83942114-83942115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113192092	chr7:83942136-83942137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111948791	chr7:83942150-83942151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115359187	chr7:83942157-83942158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111397009	chr7:83942170-83942171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112529009	chr7:83942188-83942189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377261705	chr7:83942189-83942190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533517783	chr7:83942195-83942196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373946223	chr7:83942216-83942217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13238014	chr7:83942237-83942238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs483075	chr7:83942239-83942240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551476253	chr7:83942241-83942242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13235117	chr7:83942252-83942253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13221127	chr7:83942253-83942254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113256291	chr7:83942260-83942261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Neurodevelopmental disorder	22521361	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
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
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83924400-83943800	Weak transcription	NHDF-Ad	bronchial
2	chr7:83930800-83950000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:83940000-83942400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:83940800-83941400	Active TSS	Rectal Smooth Muscle	rectum
5	chr7:83941200-83941400	Enhancers	Colon Smooth Muscle	Colon
6	chr7:83941400-83941600	Active TSS	Colon Smooth Muscle	Colon
7	chr7:83941400-83943600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:83941600-83942800	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:83942400-83947000	Active TSS	Stomach Smooth Muscle	stomach
10	chr7:83942800-83946800	Active TSS	Colon Smooth Muscle	Colon
11	chr7:83943000-83943400	Enhancers	HUVEC	blood vessel
12	chr7:83943400-83946600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr7:83943600-83946800	Active TSS	Rectal Smooth Muscle	rectum
14	chr7:83943800-83944000	Active TSS	Right Atrium	heart
15	chr7:83943800-83944200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr7:83943800-83944200	Enhancers	NHDF-Ad	bronchial

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