Variant report

Variant	esv3421382
Chromosome Location	chr7:78502124-78503474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569399424	chr7:78502125-78502126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571106444	chr7:78502153-78502154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113620006	chr7:78502266-78502267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540130598	chr7:78502343-78502344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76398116	chr7:78502349-78502350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144042480	chr7:78502360-78502361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546921251	chr7:78502434-78502435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74573074	chr7:78502467-78502468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535477669	chr7:78502470-78502471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181480884	chr7:78502492-78502493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76045496	chr7:78502511-78502512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549017733	chr7:78502542-78502543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10242250	chr7:78502559-78502560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538384941	chr7:78502619-78502620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556859550	chr7:78502632-78502633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114257333	chr7:78502661-78502662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146051718	chr7:78502673-78502674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35066550	chr7:78502680-78502681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553326404	chr7:78502687-78502688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28403083	chr7:78502744-78502745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140016132	chr7:78502747-78502748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185324432	chr7:78502750-78502751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190271649	chr7:78502752-78502753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575244520	chr7:78502770-78502771	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78493000-78502600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:78502200-78502800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:78502600-78502800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:78502600-78502800	Enhancers	Gastric	stomach

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