Variant report

Variant	nsv901786
Chromosome Location	chr14:43846159-43994785
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:43880917..43882900-chr14:43887178..43889627,2	MCF-7	breast:
2	chr14:43852687..43854424-chr14:43860035..43862313,2	K562	blood:
3	chr14:43488671..43489539-chr14:43933950..43934498,2	MCF-7	breast:
4	chr14:43973454..43975582-chr14:44005011..44006707,2	MCF-7	breast:
5	chr14:43938331..43940716-chr14:43949286..43952227,2	MCF-7	breast:
6	chr14:43865357..43867874-chr14:43869727..43871855,2	MCF-7	breast:
7	chr14:43986572..43989251-chr14:43990379..43992781,2	MCF-7	breast:
8	chr14:43947614..43949166-chr14:43949323..43951314,2	MCF-7	breast:
9	chr14:43940452..43942483-chr14:43949115..43951115,2	MCF-7	breast:
10	chr14:43972518..43973359-chr14:44264541..44265550,6	MCF-7	breast:
11	chr14:43865357..43867874-chr14:43869727..43871855,2	MCF-7	breast:
12	chr14:43880917..43882900-chr14:43887178..43889627,2	MCF-7	breast:
13	chr14:43941963..43943822-chr14:43946116..43947630,2	MCF-7	breast:
14	chr14:43993538..43995707-chr14:44000622..44002493,2	MCF-7	breast:
15	chr14:43852687..43854424-chr14:43860035..43862313,2	K562	blood:
16	chr14:43821381..43823520-chr14:43862265..43864179,2	MCF-7	breast:
17	chr14:43940452..43942483-chr14:43949115..43951115,2	MCF-7	breast:
18	chr14:43879061..43882609-chr14:43885109..43888407,3	MCF-7	breast:
19	chr14:43938331..43940716-chr14:43949286..43952227,2	MCF-7	breast:
20	chr14:43941963..43943822-chr14:43946116..43947630,2	MCF-7	breast:
21	chr14:43947614..43949166-chr14:43949323..43951314,2	MCF-7	breast:
22	chr14:43989907..43990507-chr17:56708657..56709394,2	MCF-7	breast:
23	chr14:43986572..43989251-chr14:43990379..43992781,2	MCF-7	breast:
24	chr14:43972805..43973364-chr14:44367745..44368249,2	MCF-7	breast:
25	chr10:32510632..32511618-chr14:43981940..43982629,2	MCF-7	breast:
26	chr14:43879061..43882609-chr14:43885109..43888407,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 966 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:966 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537966395	chr14:43876210-43876211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184428551	chr14:43876219-43876220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570133680	chr14:43876225-43876226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571584580	chr14:43876284-43876285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34080231	chr14:43876287-43876288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80220632	chr14:43876291-43876292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1494006	chr14:43876342-43876343	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74048118	chr14:43876343-43876344	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs117256829	chr14:43876354-43876355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554406476	chr14:43876400-43876401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572879801	chr14:43876413-43876414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539875463	chr14:43876502-43876503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543104135	chr14:43876529-43876530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564864432	chr14:43876561-43876562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577129915	chr14:43876584-43876585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544458963	chr14:43876594-43876595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557663294	chr14:43879808-43879809	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs575908498	chr14:43879840-43879841	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs151039806	chr14:43879911-43879912	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs561696897	chr14:43879922-43879923	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs528993287	chr14:43879943-43879944	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs73331379	chr14:43880009-43880010	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs559481207	chr14:43880039-43880040	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs7143267	chr14:43880049-43880050	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs34801129	chr14:43880093-43880094	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7143413	chr14:43880095-43880096	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570385873	chr14:43880104-43880105	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs115094516	chr14:43880106-43880107	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs549566471	chr14:43880117-43880118	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs368068755	chr14:43880119-43880120	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs186216013	chr14:43880145-43880146	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs553229798	chr14:43880150-43880151	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs571390236	chr14:43880181-43880182	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs538674007	chr14:43880196-43880197	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs560906333	chr14:43881823-43881824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573469598	chr14:43881882-43881883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144582226	chr14:43881894-43881895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568685638	chr14:43881917-43881918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565235311	chr14:43881944-43881945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147987243	chr14:43881955-43881956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566495086	chr14:43881985-43881986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572581484	chr14:43881997-43881998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141617885	chr14:43882001-43882002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185692884	chr14:43882012-43882013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1874050	chr14:43882129-43882130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575210760	chr14:43882186-43882187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542602045	chr14:43882198-43882199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1874051	chr14:43882229-43882230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116684093	chr14:43882253-43882254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546954355	chr14:43882267-43882268	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43876200-43876600	Enhancers	Hela-S3	cervix
2	chr14:43879800-43880200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:43881800-43882800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr14:43886800-43888400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr14:43887000-43887200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:43887400-43887800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr14:43887400-43888000	Enhancers	Primary hematopoietic stem cells	blood
8	chr14:43887400-43888000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:43887400-43888400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:43918000-43919200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:43930800-43931200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:43936600-43940200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:43937600-43938000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:43939800-43940000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr14:43940000-43940600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:43940200-43941400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:43940400-43941400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:43940600-43941000	Enhancers	Brain Substantia Nigra	brain
19	chr14:43940600-43941200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr14:43940800-43941200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr14:43940800-43941200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr14:43940800-43941200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:43940800-43941200	Enhancers	Fetal Kidney	kidney
24	chr14:43947600-43948400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:43948400-43954800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:43950200-43950600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr14:43952800-43953000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:43953200-43954600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:43954600-43955200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:43954800-43955200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr14:43954800-43955200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr14:43954800-43955200	Active TSS	A549	lung
33	chr14:43971200-43971800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:43971200-43972400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr14:43971400-43972600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr14:43971600-43972600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr14:43971600-43972800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr14:43971600-43973200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr14:43971800-43972000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:43972000-43972200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:43972200-43972800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:43972200-43973200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:43972400-43972800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr14:43972800-43973000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:43973200-43973800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:43991400-43991600	Enhancers	Fetal Lung	lung
47	chr14:43991600-43994800	Weak transcription	Fetal Lung	lung
48	chr14:43993400-43993600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:43993600-43994800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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