Variant report

Variant	esv3429061
Chromosome Location	chr14:55889547-55890092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55889778..55893394-chr14:55894134..55896526,3	K562	blood:
2	chr14:55888467..55890762-chr14:55899523..55901753,2	K562	blood:
3	chr14:55888145..55889967-chr14:55899523..55902153,2	K562	blood:
4	chr14:55890007..55892259-chr14:56172820..56174391,2	K562	blood:
5	chr14:55882209..55883793-chr14:55889649..55891588,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553531262	chr14:55889606-55889607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574892206	chr14:55889658-55889659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536068092	chr14:55889688-55889689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2341537	chr14:55889693-55889694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576029826	chr14:55889694-55889695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114516812	chr14:55889712-55889713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74053913	chr14:55889725-55889726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546043425	chr14:55889742-55889743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112925605	chr14:55889774-55889775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540415893	chr14:55889775-55889776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531466355	chr14:55889778-55889779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59883673	chr14:55889788-55889789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7156493	chr14:55889815-55889816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184721189	chr14:55889817-55889818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547995240	chr14:55889824-55889825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563210924	chr14:55889853-55889854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189168436	chr14:55889864-55889865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552133271	chr14:55889866-55889867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570401268	chr14:55889894-55889895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77350057	chr14:55889916-55889917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79240711	chr14:55890017-55890018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536029992	chr14:55890040-55890041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557616016	chr14:55890056-55890057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575993785	chr14:55890062-55890063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540176776	chr14:55890063-55890064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76052518	chr14:55890085-55890086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55884400-55890200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:55885000-55890200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:55885400-55890200	Weak transcription	Stomach Mucosa	stomach
4	chr14:55885400-55891600	Weak transcription	Right Ventricle	heart
5	chr14:55886000-55890200	Weak transcription	K562	blood
6	chr14:55886400-55890400	Weak transcription	Fetal Heart	heart
7	chr14:55890000-55891200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:55890000-55891800	Enhancers	Primary hematopoietic stem cells	blood

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