Variant report

Variant	esv9717
Chromosome Location	chr7:78357583-78358439
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	chr7:78354533..78356785-chr7:78357118..78359771,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564251423	chr7:78357636-78357637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193139354	chr7:78357670-78357671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11762589	chr7:78357685-78357686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11760265	chr7:78357688-78357689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529050240	chr7:78357697-78357698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11773249	chr7:78357713-78357714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1859327	chr7:78357729-78357730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182281007	chr7:78357779-78357780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371866859	chr7:78357791-78357792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112032571	chr7:78357875-78357876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71085560	chr7:78357886-78357887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10237476	chr7:78357957-78357958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10224257	chr7:78357983-78357984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571891217	chr7:78358058-78358059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369781446	chr7:78358083-78358084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112008882	chr7:78358095-78358096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569598305	chr7:78358128-78358129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554128315	chr7:78358155-78358156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184266576	chr7:78358159-78358160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538584967	chr7:78358161-78358162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567532668	chr7:78358200-78358201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73152421	chr7:78358226-78358227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10227776	chr7:78358308-78358309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574975667	chr7:78358338-78358339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565777656	chr7:78358343-78358344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376145410	chr7:78358394-78358395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13437895	chr7:78358413-78358414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs368120360	chr7:78358424-78358425	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
Cancer	20164919	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78346800-78361400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:78355600-78363400	Weak transcription	Brain Anterior Caudate	brain

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