Variant report

Variant	esv3347223
Chromosome Location	chr14:77622626-77623440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77621398..77624327-chr14:77786933..77789294,4	MCF-7	breast:
2	chr14:77618647..77620331-chr14:77622173..77624872,2	K562	blood:
3	chr14:77617758..77621204-chr14:77622193..77625212,3	MCF-7	breast:
4	chr14:77615331..77626101-chr14:77782557..77793016,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100577	chromatin interactions
ENSG00000009830	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368830132	chr14:77622626-77622627	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs376935885	chr14:77622638-77622639	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11434884	chr14:77622639-77622640	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs67335288	chr14:77622640-77622641	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141021919	chr14:77622706-77622707	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs166967	chr14:77622721-77622722	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs561802704	chr14:77622832-77622833	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs190779206	chr14:77622833-77622834	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs373085267	chr14:77622841-77622842	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371638438	chr14:77622843-77622844	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs541197418	chr14:77622844-77622845	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs564315807	chr14:77622865-77622866	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs573882146	chr14:77622921-77622922	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs199797927	chr14:77622945-77622946	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs533394550	chr14:77622948-77622949	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144931512	chr14:77622973-77622974	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570298656	chr14:77622985-77622986	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs528834443	chr14:77622986-77622987	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs166968	chr14:77623000-77623001	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs2655988	chr14:77623135-77623136	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs149036651	chr14:77623138-77623139	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs183494620	chr14:77623139-77623140	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs8014140	chr14:77623140-77623141	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113515815	chr14:77623144-77623145	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs118092587	chr14:77623173-77623174	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs187112479	chr14:77623195-77623196	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs376341980	chr14:77623207-77623208	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs542170286	chr14:77623245-77623246	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs78557433	chr14:77623250-77623251	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs158110	chr14:77623335-77623336	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs541110091	chr14:77623338-77623339	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs564280663	chr14:77623387-77623388	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs533568387	chr14:77623403-77623404	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs117596857	chr14:77623425-77623426	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77613800-77624800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:77615400-77624200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr14:77618200-77624200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:77620200-77624000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:77621200-77624200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:77621200-77624200	Weak transcription	Fetal Brain Female	brain
7	chr14:77621400-77624200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:77621400-77624200	Weak transcription	Brain Substantia Nigra	brain
9	chr14:77621400-77624600	Weak transcription	Esophagus	oesophagus
10	chr14:77621600-77623400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:77621600-77624200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:77621600-77624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:77621600-77624200	Weak transcription	Brain Anterior Caudate	brain
14	chr14:77621600-77624200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:77621800-77624000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:77622000-77624000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:77622000-77624200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:77622000-77624200	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:77622000-77624200	Weak transcription	Fetal Brain Male	brain
20	chr14:77622000-77624800	Weak transcription	Left Ventricle	heart
21	chr14:77622000-77624800	Weak transcription	Right Atrium	heart
22	chr14:77622200-77624000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:77622200-77624200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:77622400-77624200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:77622400-77624200	Weak transcription	Brain Angular Gyrus	brain
26	chr14:77622600-77623000	Weak transcription	Brain Germinal Matrix	brain
27	chr14:77623000-77623200	Enhancers	Brain Germinal Matrix	brain
28	chr14:77623200-77624200	Weak transcription	Brain Germinal Matrix	brain
29	chr14:77623400-77624200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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