Variant report

Variant	nsv564774
Chromosome Location	chr14:47702469-47729127
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	chr14:47706399..47708616-chr14:47715847..47717651,2	MCF-7	breast:
2	chr14:47706399..47708616-chr14:47715847..47717651,2	MCF-7	breast:

Extended variants
information (count: 557 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10148729	chr14:47702469-47702470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144822731	chr14:47702475-47702476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192226109	chr14:47702498-47702499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185541527	chr14:47702536-47702537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547063243	chr14:47702549-47702550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574057350	chr14:47702553-47702554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550390096	chr14:47702568-47702569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566948334	chr14:47702573-47702574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78263754	chr14:47702583-47702584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180701159	chr14:47702613-47702614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116534723	chr14:47702614-47702615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538443616	chr14:47702615-47702616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80116125	chr14:47702616-47702617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574843780	chr14:47702617-47702618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542197794	chr14:47702621-47702622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549601606	chr14:47702647-47702648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572814395	chr14:47702684-47702685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563184332	chr14:47702696-47702697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544747514	chr14:47702725-47702726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564993691	chr14:47702769-47702770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530576044	chr14:47702834-47702835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112048871	chr14:47702842-47702843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116109434	chr14:47702859-47702860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185998774	chr14:47702877-47702878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114318398	chr14:47702878-47702879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566718145	chr14:47702903-47702904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147019901	chr14:47703056-47703057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532542264	chr14:47703113-47703114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552349251	chr14:47703124-47703125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138658516	chr14:47703214-47703215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111496444	chr14:47703234-47703235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538052354	chr14:47703258-47703259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141670966	chr14:47703378-47703379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532043462	chr14:47703398-47703399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189629190	chr14:47703401-47703402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559556121	chr14:47703423-47703424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554067546	chr14:47703426-47703427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145373489	chr14:47703434-47703435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571329128	chr14:47703439-47703440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10873005	chr14:47703538-47703539	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs181275250	chr14:47703562-47703563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575343701	chr14:47703594-47703595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544398276	chr14:47703785-47703786	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs561099093	chr14:47703866-47703867	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs574699501	chr14:47703875-47703876	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540486927	chr14:47703987-47703988	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs116078849	chr14:47704008-47704009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185815604	chr14:47704024-47704025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117710456	chr14:47704063-47704064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562822594	chr14:47704112-47704113	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Colorectal cancer	16774939	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
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	20967226	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47699200-47703600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:47699400-47703000	Weak transcription	HUVEC	blood vessel
3	chr14:47699400-47703600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:47703000-47703600	Enhancers	HUVEC	blood vessel
5	chr14:47703600-47704000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:47703600-47704000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:47703600-47704000	Flanking Active TSS	HUVEC	blood vessel
8	chr14:47704000-47705600	Enhancers	HUVEC	blood vessel
9	chr14:47710200-47710600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:47710200-47710600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:47710200-47710600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr14:47710200-47710600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:47710600-47713600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:47720400-47720600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:47720600-47721800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:47721200-47721800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:47721800-47722200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr14:47721800-47722200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:47721800-47722200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:47722200-47722400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:47722200-47722600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:47722600-47723200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr14:47722800-47723400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:47725200-47727800	Enhancers	Primary T cells from cord blood	blood
25	chr14:47725400-47727800	Enhancers	Fetal Thymus	thymus
26	chr14:47726200-47726600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:47726200-47726800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:47726600-47728800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:47727800-47729000	Weak transcription	Primary T cells from cord blood	blood
30	chr14:47728800-47729400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:47728800-47729400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:47729000-47729800	Enhancers	Cortex derived primary cultured neurospheres	brain

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