Variant report

Variant	esv3372720
Chromosome Location	chr14:77722362-77722587
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	chr14:77720307..77722761-chr14:77737382..77738891,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165553	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543437164	chr14:77722365-77722366	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570367684	chr14:77722391-77722392	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529293291	chr14:77722405-77722406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561543421	chr14:77722416-77722417	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs7144159	chr14:77722451-77722452	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535134885	chr14:77722453-77722454	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs733416	chr14:77722467-77722468	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs571815517	chr14:77722493-77722494	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537701072	chr14:77722518-77722519	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557728330	chr14:77722533-77722534	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138507925	chr14:77722567-77722568	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375136779	chr14:77722578-77722579	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77697600-77726800	Weak transcription	Brain Substantia Nigra	brain
2	chr14:77709800-77729600	Weak transcription	Fetal Brain Male	brain
3	chr14:77711200-77731000	Weak transcription	Spleen	Spleen
4	chr14:77713200-77726800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:77714000-77723400	Weak transcription	Fetal Intestine Large	intestine
6	chr14:77716200-77724200	Weak transcription	Brain Angular Gyrus	brain
7	chr14:77718400-77726800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:77720000-77724600	Weak transcription	Fetal Intestine Small	intestine
9	chr14:77720400-77724000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:77720600-77725000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:77720800-77723400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:77720800-77724600	Weak transcription	Brain Germinal Matrix	brain
13	chr14:77720800-77725600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:77720800-77725800	Weak transcription	Esophagus	oesophagus
15	chr14:77720800-77726800	Weak transcription	Brain Anterior Caudate	brain
16	chr14:77720800-77727000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:77721800-77725000	Strong transcription	Fetal Brain Female	brain

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