Variant report

Variant	esv3519555
Chromosome Location	chr7:77959566-77959995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 90 )

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	rs537106745	chr7:77959575-77959576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375668349	chr7:77959653-77959654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369763584	chr7:77959654-77959655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374479225	chr7:77959655-77959656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183396188	chr7:77959672-77959673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4363137	chr7:77959687-77959688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546724950	chr7:77959705-77959706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189826231	chr7:77959717-77959718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2109394	chr7:77959737-77959738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553624635	chr7:77959762-77959763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573411974	chr7:77959775-77959776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542038846	chr7:77959799-77959800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549543898	chr7:77959842-77959843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535452107	chr7:77959855-77959856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368643453	chr7:77959856-77959857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572127345	chr7:77959871-77959872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377694334	chr7:77959872-77959873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4024122	chr7:77959961-77959962	Weak transcription	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
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:77946200-77976000	Weak transcription	Aorta	Aorta
2	chr7:77953600-77986600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:77955200-77963000	Weak transcription	Esophagus	oesophagus
4	chr7:77956800-77964400	Weak transcription	Ovary	ovary
5	chr7:77957000-77975800	Weak transcription	Brain Angular Gyrus	brain
6	chr7:77957200-77973200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:77957200-77975800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:77957600-77974800	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:77957600-77976000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:77957600-77978600	Weak transcription	Brain Anterior Caudate	brain
11	chr7:77958000-77979800	Weak transcription	Fetal Brain Female	brain

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