Variant report

Variant	esv3520090
Chromosome Location	chr7:21587610-21587923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112557402	chr7:21587656-21587657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546616884	chr7:21587707-21587708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376486749	chr7:21587709-21587710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376183530	chr7:21587710-21587711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115040255	chr7:21587711-21587712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114919411	chr7:21587722-21587723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535565654	chr7:21587748-21587749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79443566	chr7:21587777-21587778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35294143	chr7:21587823-21587824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs113440730	chr7:21587827-21587828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557482101	chr7:21587842-21587843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11766898	chr7:21587845-21587846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140562988	chr7:21587848-21587849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554184769	chr7:21587850-21587851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62439331	chr7:21587868-21587869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371564824	chr7:21587901-21587902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75597418	chr7:21587906-21587907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562984038	chr7:21587921-21587922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21583600-21588400	Weak transcription	Pancreas	Pancrea
2	chr7:21583800-21591200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:21584000-21588200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:21584800-21590200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:21585200-21594400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:21585800-21590800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:21585800-21591000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:21586000-21590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:21586000-21591200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:21586000-21598800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:21586200-21590800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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