Variant report

Variant	nsv564787
Chromosome Location	chr14:47709799-47729127
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:

Extended variants
information (count: 457 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529528755	chr14:47710202-47710203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149794710	chr14:47710209-47710210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs36055526	chr14:47710219-47710220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544469089	chr14:47710285-47710286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374260616	chr14:47710298-47710299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561175122	chr14:47710300-47710301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145724930	chr14:47710338-47710339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529837742	chr14:47710369-47710370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193183054	chr14:47710386-47710387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200070114	chr14:47710450-47710451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185494926	chr14:47710486-47710487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532604573	chr14:47710497-47710498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552275851	chr14:47710522-47710523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549281654	chr14:47710527-47710528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569063445	chr14:47710536-47710537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368646997	chr14:47710554-47710555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548465883	chr14:47710559-47710560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112709506	chr14:47710590-47710591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534540509	chr14:47710613-47710614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568463014	chr14:47710622-47710623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574763801	chr14:47710625-47710626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17652736	chr14:47710638-47710639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531816956	chr14:47710639-47710640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187960369	chr14:47710649-47710650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191319224	chr14:47710658-47710659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183824368	chr14:47710666-47710667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575467778	chr14:47710690-47710691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188441360	chr14:47710716-47710717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368866301	chr14:47710721-47710722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368819408	chr14:47710732-47710733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561162663	chr14:47710800-47710801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574704596	chr14:47710838-47710839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540173522	chr14:47710853-47710854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556294158	chr14:47710869-47710870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200599614	chr14:47710892-47710893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532663837	chr14:47710906-47710907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372699551	chr14:47710909-47710910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139540131	chr14:47710988-47710989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377493328	chr14:47711054-47711055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181264845	chr14:47711059-47711060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545852875	chr14:47711103-47711104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184986831	chr14:47711114-47711115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17652760	chr14:47711141-47711142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546730676	chr14:47711173-47711174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548405196	chr14:47711177-47711178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539587945	chr14:47711183-47711184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76406902	chr14:47711201-47711202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189915119	chr14:47711257-47711258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547793220	chr14:47711260-47711261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566414365	chr14:47711318-47711319	Weak transcription	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:24 , 50 per page) page: 1

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

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