Variant report

Variant	esv3363960
Chromosome Location	chr7:79741416-79743464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:79727798..79730628-chr7:79742506..79744646,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76408234	chr7:79741434-79741435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542505320	chr7:79741448-79741449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557237577	chr7:79741455-79741456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568861059	chr7:79741462-79741463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10280273	chr7:79741474-79741475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183785793	chr7:79741510-79741511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545087861	chr7:79741523-79741524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188465784	chr7:79741540-79741541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201809320	chr7:79741554-79741555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554985895	chr7:79741562-79741563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11983944	chr7:79741589-79741590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180843882	chr7:79741628-79741629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541718598	chr7:79741658-79741659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561464471	chr7:79741668-79741669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538135053	chr7:79741693-79741694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10267026	chr7:79741699-79741700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550135063	chr7:79741701-79741702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113331559	chr7:79741703-79741704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532492185	chr7:79741713-79741714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552206492	chr7:79741757-79741758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565747310	chr7:79741772-79741773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10273360	chr7:79741852-79741853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199952713	chr7:79741885-79741886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186492602	chr7:79741917-79741918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567479129	chr7:79741925-79741926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536534643	chr7:79741926-79741927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557688529	chr7:79741931-79741932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71076497	chr7:79741951-79741952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149400743	chr7:79742001-79742002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553753788	chr7:79742006-79742007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576274014	chr7:79742061-79742062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112705443	chr7:79742091-79742092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377402589	chr7:79742093-79742094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199830403	chr7:79742406-79742407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200780723	chr7:79742407-79742408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201954896	chr7:79742408-79742409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538737964	chr7:79742443-79742444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148560030	chr7:79742481-79742482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572159580	chr7:79742501-79742502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540716160	chr7:79742527-79742528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76929426	chr7:79742531-79742532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572599642	chr7:79742542-79742543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141659923	chr7:79742555-79742556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147172941	chr7:79742618-79742619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563543932	chr7:79742630-79742631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191330344	chr7:79742639-79742640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539736482	chr7:79742665-79742666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552345234	chr7:79742700-79742701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111616419	chr7:79742730-79742731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536769015	chr7:79742744-79742745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79736600-79742800	Weak transcription	Brain Hippocampus Middle	brain
2	chr7:79737000-79742800	Weak transcription	Brain Substantia Nigra	brain
3	chr7:79737600-79742800	Weak transcription	Brain Angular Gyrus	brain
4	chr7:79737600-79742800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:79741200-79743000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:79741200-79743000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:79742800-79743000	Enhancers	Brain Cingulate Gyrus	brain
8	chr7:79742800-79743000	Enhancers	Brain Hippocampus Middle	brain
9	chr7:79742800-79743200	Enhancers	Brain Angular Gyrus	brain
10	chr7:79742800-79743600	Active TSS	Brain Substantia Nigra	brain
11	chr7:79743000-79743600	Active TSS	Brain Cingulate Gyrus	brain
12	chr7:79743000-79743600	Active TSS	Brain Hippocampus Middle	brain
13	chr7:79743000-79743800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:79743000-79744000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:79743200-79743800	Active TSS	Brain Angular Gyrus	brain
16	chr7:79743200-79744000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr7:79743400-79743800	Active TSS	Brain Anterior Caudate	brain
18	chr7:79743400-79744000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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