Variant report

Variant	nsv510638
Chromosome Location	chr14:65353025-65368298
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65268216..65269184-chr14:65358330..65359038,4	K562	blood:
2	chr14:65346776..65348701-chr14:65353935..65356642,2	K562	blood:
3	chr14:65358336..65361161-chr14:65365213..65366947,2	K562	blood:
4	chr14:65289311..65290700-chr14:65357720..65359432,13	MCF-7	breast:
5	chr14:65346776..65351606-chr14:65355142..65358604,5	K562	blood:
6	chr14:65360076..65361766-chr14:65362287..65363875,2	MCF-7	breast:
7	chr14:65358336..65361161-chr14:65365213..65366947,2	K562	blood:
8	chr14:65289524..65290526-chr14:65358021..65359324,8	K562	blood:
9	chr14:65288738..65289433-chr14:65358177..65359166,2	K562	blood:
10	chr14:65264347..65266634-chr14:65358841..65360422,2	MCF-7	breast:
11	chr14:65352038..65354745-chr14:65354823..65356401,2	MCF-7	breast:
12	chr14:65345386..65349759-chr14:65351524..65353392,4	K562	blood:
13	chr14:65360076..65361766-chr14:65362287..65363875,2	MCF-7	breast:
14	chr14:65238323..65239708-chr14:65358202..65359292,7	MCF-7	breast:
15	chr14:65356440..65358700-chr14:65379769..65381546,2	MCF-7	breast:
16	chr14:65289223..65290628-chr14:65357779..65359171,7	MCF-7	breast:
17	chr14:65238831..65239785-chr14:65358174..65359063,5	MCF-7	breast:
18	chr14:65348790..65350431-chr14:65354334..65355956,2	K562	blood:
19	chr14:65267486..65269217-chr14:65357718..65359262,14	MCF-7	breast:
20	chr14:65353028..65355615-chr14:65356230..65358479,2	K562	blood:
21	chr14:65346800..65348898-chr14:65351625..65354536,2	K562	blood:
22	chr14:65353028..65355615-chr14:65356230..65358479,2	K562	blood:
23	chr14:65352038..65354745-chr14:65354823..65356401,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258289	chromatin interactions
ENSG00000125954	chromatin interactions
ENSG00000070182	chromatin interactions

Extended variants
information (count: 508 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529106131	chr14:65353097-65353098	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542461175	chr14:65353099-65353100	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369300411	chr14:65353141-65353142	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs1957431	chr14:65353187-65353188	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530939474	chr14:65353215-65353216	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs72726266	chr14:65353242-65353243	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs114605867	chr14:65353256-65353257	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533179113	chr14:65353257-65353258	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546924093	chr14:65353307-65353308	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186779720	chr14:65353360-65353361	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117552608	chr14:65353380-65353381	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556032836	chr14:65353404-65353405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569453794	chr14:65353409-65353410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538409102	chr14:65353444-65353445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373497631	chr14:65353500-65353501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1957430	chr14:65353506-65353507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191236497	chr14:65353627-65353628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1998333	chr14:65353632-65353633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs182331019	chr14:65353634-65353635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553727217	chr14:65353756-65353757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573640697	chr14:65353758-65353759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs8021599	chr14:65353772-65353773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs562413147	chr14:65353774-65353775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187754224	chr14:65353796-65353797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73279839	chr14:65353834-65353835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560961207	chr14:65353907-65353908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564424780	chr14:65353949-65353950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538010897	chr14:65353973-65353974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546716342	chr14:65354009-65354010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566858816	chr14:65354011-65354012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534926792	chr14:65354026-65354027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542322494	chr14:65354027-65354028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561997558	chr14:65354028-65354029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1957429	chr14:65354033-65354034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs193117869	chr14:65354041-65354042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1957428	chr14:65354058-65354059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1957427	chr14:65354085-65354086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs150270296	chr14:65354102-65354103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533877626	chr14:65354122-65354123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185186929	chr14:65354151-65354152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375196746	chr14:65354165-65354166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573321769	chr14:65354225-65354226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535811521	chr14:65354336-65354337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556048155	chr14:65354338-65354339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533036878	chr14:65354524-65354525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558294442	chr14:65354572-65354573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376463420	chr14:65354586-65354587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190116737	chr14:65354588-65354589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544919510	chr14:65354598-65354599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74798585	chr14:65354638-65354639	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:63)

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
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
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	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65352200-65353400	Enhancers	K562	blood
2	chr14:65353200-65353400	Enhancers	Gastric	stomach
3	chr14:65353400-65357400	Weak transcription	K562	blood
4	chr14:65357400-65358600	Enhancers	K562	blood
5	chr14:65357800-65358400	Enhancers	Liver	Liver
6	chr14:65357800-65358600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr14:65358000-65358600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr14:65358200-65359000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr14:65358400-65358600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:65358600-65368000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:65364200-65364800	Enhancers	Thymus	Thymus
12	chr14:65364400-65364800	Bivalent Enhancer	Fetal Thymus	thymus
13	chr14:65366600-65367000	Enhancers	K562	blood

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