Variant report

Variant	nsv901894
Chromosome Location	chr14:47975761-48041708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:47911217..47911884-chr14:48008112..48009013,3	MCF-7	breast:
2	chr14:48014028..48016603-chr14:48018952..48020463,2	K562	blood:
3	chr14:48014028..48016603-chr14:48018952..48020463,2	K562	blood:
4	chr14:48015701..48018210-chr14:48018280..48020967,2	MCF-7	breast:
5	chr14:47049935..47050932-chr14:48008149..48008898,3	MCF-7	breast:
6	chr14:48015701..48018210-chr14:48018280..48020967,2	MCF-7	breast:
7	chr14:47910964..47912035-chr14:48008060..48009032,5	MCF-7	breast:
8	chr14:47050439..47051198-chr14:48008059..48008561,2	MCF-7	breast:

No data

Extended variants
information (count: 2272 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2272 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577454523	chr14:47976648-47976649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539899725	chr14:47976658-47976659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556482033	chr14:47976679-47976680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576552644	chr14:47976681-47976682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1013376	chr14:47976685-47976686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141768108	chr14:47976694-47976695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182692936	chr14:47976772-47976773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572382892	chr14:47976831-47976832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79101900	chr14:47976856-47976857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559710200	chr14:47976862-47976863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532088978	chr14:47976924-47976925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552204954	chr14:47976935-47976936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188260095	chr14:47976998-47976999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542261666	chr14:47977065-47977066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548056984	chr14:47977115-47977116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568407466	chr14:47977126-47977127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562527673	chr14:47977128-47977129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146005720	chr14:47977134-47977135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376381638	chr14:47977148-47977149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531474141	chr14:47977167-47977168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547821863	chr14:47977218-47977219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570812367	chr14:47977243-47977244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529945807	chr14:47977254-47977255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556588609	chr14:47977255-47977256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192789164	chr14:47977262-47977263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139897690	chr14:47977268-47977269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114910502	chr14:47977304-47977305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572450100	chr14:47977323-47977324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541289832	chr14:47977325-47977326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112374296	chr14:47977327-47977328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143313792	chr14:47977330-47977331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576404274	chr14:47977335-47977336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545463866	chr14:47977372-47977373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527897054	chr14:47977454-47977455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562628872	chr14:47977482-47977483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531301262	chr14:47977509-47977510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371032352	chr14:47977520-47977521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149881110	chr14:47977555-47977556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528765409	chr14:47977556-47977557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71112501	chr14:47977584-47977585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs3039658	chr14:47977585-47977586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369954709	chr14:47977586-47977587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112037157	chr14:47977592-47977593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146694069	chr14:47977600-47977601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538925746	chr14:47977617-47977618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139792509	chr14:47977667-47977668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368364396	chr14:47977670-47977671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548041524	chr14:47977686-47977687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558587421	chr14:47977692-47977693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139055056	chr14:47977705-47977706	Weak transcription 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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Gastric cancer	18160780	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47976600-47978000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:47977000-47977600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:47977200-47977600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:47977600-47980000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:47977600-47981200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:47978000-47980800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:47979200-47980600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:47979400-47979800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr14:47979400-47980400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:47979400-47981400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:47979600-47980000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:47980000-47981400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr14:47980600-47981000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:47980800-47981400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:47981000-47981200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:47981200-47981400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:47981200-47984400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:47981400-47982600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:47981400-47985800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:47982600-47983000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:47983000-47985200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:47984400-47986200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:47984600-47985800	Enhancers	HepG2	liver
24	chr14:47985200-47985600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:47985600-47999600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:47985800-47986000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:47999000-47999200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:47999600-48000000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:48000000-48008000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:48003400-48003800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr14:48003800-48005000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:48004400-48008400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr14:48004600-48005200	Enhancers	Fetal Heart	heart
34	chr14:48004600-48006000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr14:48004600-48007000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr14:48005000-48005400	Enhancers	H9 Cell Line	embryonic stem cell
37	chr14:48005000-48006400	Enhancers	Fetal Brain Female	brain
38	chr14:48005000-48008400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr14:48005000-48008400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr14:48005200-48006400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr14:48005200-48007600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr14:48005400-48005600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:48005400-48006400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr14:48005400-48008200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr14:48005600-48007200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr14:48005800-48006000	Enhancers	Brain Germinal Matrix	brain
47	chr14:48005800-48018800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:48006000-48006200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:48006000-48006600	Weak transcription	Brain Germinal Matrix	brain
50	chr14:48006000-48008200	Weak transcription	H1 Cell Line	embryonic stem cell

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