Variant report

Variant	esv3446832
Chromosome Location	chr7:79679866-79682014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541457241	chr7:79679900-79679901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544177906	chr7:79679915-79679916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138871525	chr7:79679924-79679925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529212669	chr7:79679979-79679980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542894301	chr7:79679982-79679983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562766090	chr7:79679991-79679992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11769120	chr7:79680017-79680018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35176621	chr7:79680023-79680024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201939887	chr7:79680025-79680026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200263560	chr7:79680026-79680027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397810364	chr7:79680031-79680032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200663691	chr7:79680032-79680033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571342934	chr7:79680067-79680068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76943920	chr7:79680102-79680103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527364194	chr7:79680108-79680109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11769881	chr7:79680115-79680116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs148986059	chr7:79680163-79680164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569798095	chr7:79680176-79680177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561581439	chr7:79680221-79680222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117697369	chr7:79680256-79680257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12673496	chr7:79680315-79680316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs542622529	chr7:79680358-79680359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559436181	chr7:79680370-79680371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143478338	chr7:79680397-79680398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376131080	chr7:79680449-79680450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572516401	chr7:79680534-79680535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73374589	chr7:79680543-79680544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555005796	chr7:79680544-79680545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528951211	chr7:79680554-79680555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574930637	chr7:79680558-79680559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10591909	chr7:79680565-79680566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398111490	chr7:79680566-79680567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150291514	chr7:79680567-79680568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72232517	chr7:79680576-79680577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201424645	chr7:79680577-79680578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186945226	chr7:79680628-79680629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13232808	chr7:79680645-79680646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12672137	chr7:79680671-79680672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13232925	chr7:79680681-79680682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544594112	chr7:79680711-79680712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576234104	chr7:79680744-79680745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376802116	chr7:79680745-79680746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545205429	chr7:79680771-79680772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564892176	chr7:79680772-79680773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527385931	chr7:79680774-79680775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56347739	chr7:79680778-79680779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547140748	chr7:79680815-79680816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191383280	chr7:79680822-79680823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560640656	chr7:79680828-79680829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114360678	chr7:79680901-79680902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79678200-79683400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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