Variant report

Variant	nsv564948
Chromosome Location	chr14:65711180-65712420
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65709860..65711374-chr14:65803916..65806781,2	MCF-7	breast:
2	chr14:65708389..65714331-chr14:65715596..65724154,17	MCF-7	breast:
3	chr14:65691185..65703550-chr14:65706694..65715001,23	MCF-7	breast:
4	chr14:65708443..65711390-chr14:65727270..65732025,4	MCF-7	breast:
5	chr14:65583338..65585299-chr14:65708352..65712057,3	MCF-7	breast:
6	chr14:65711767..65715817-chr14:65877100..65880952,4	MCF-7	breast:
7	chr14:65708249..65716123-chr14:65876687..65882798,15	MCF-7	breast:
8	chr14:65710525..65712418-chr14:65882853..65884868,2	MCF-7	breast:
9	chr14:65703266..65707350-chr14:65709369..65712516,3	K562	blood:
10	chr14:65709528..65711067-chr14:65712244..65714160,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258878	chromatin interactions
ENSG00000033170	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1256489	chr14:65711180-65711181	Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1256490	chr14:65711192-65711193	Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572637524	chr14:65711202-65711203	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532411920	chr14:65711215-65711216	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs541656333	chr14:65711220-65711221	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566006757	chr14:65711223-65711224	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs148711699	chr14:65711264-65711265	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs1256491	chr14:65711290-65711291	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs574935702	chr14:65711329-65711330	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs72712450	chr14:65711336-65711337	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs563744069	chr14:65711351-65711352	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs77995686	chr14:65711376-65711377	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576252303	chr14:65711385-65711386	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs1256492	chr14:65711387-65711388	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1256493	chr14:65711439-65711440	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572450065	chr14:65711457-65711458	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs541060603	chr14:65711527-65711528	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs544437549	chr14:65711531-65711532	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs370865304	chr14:65711558-65711559	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs192326941	chr14:65711565-65711566	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs563444152	chr14:65711575-65711576	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs1256494	chr14:65711579-65711580	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552434624	chr14:65711651-65711652	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs559676292	chr14:65711720-65711721	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs1256495	chr14:65711755-65711756	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs113757220	chr14:65711758-65711759	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs142292070	chr14:65711836-65711837	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs12587691	chr14:65711837-65711838	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183029226	chr14:65711852-65711853	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201085628	chr14:65711866-65711867	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs187564604	chr14:65711885-65711886	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs1256496	chr14:65711913-65711914	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372694462	chr14:65711917-65711918	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs558776675	chr14:65711935-65711936	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs193287072	chr14:65711976-65711977	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs1256497	chr14:65711984-65711985	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554631093	chr14:65712005-65712006	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs568348235	chr14:65712033-65712034	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs531260723	chr14:65712047-65712048	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs550831115	chr14:65712048-65712049	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs570194301	chr14:65712063-65712064	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs368996839	chr14:65712064-65712065	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs563756082	chr14:65712110-65712111	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs147923766	chr14:65712116-65712117	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs36069390	chr14:65712117-65712118	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs112418829	chr14:65712125-65712126	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs61653504	chr14:65712126-65712127	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs75555583	chr14:65712131-65712132	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs546017720	chr14:65712198-65712199	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs371629459	chr14:65712250-65712251	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65703400-65711800	Enhancers	Fetal Intestine Small	intestine
3	chr14:65706600-65718200	Weak transcription	Spleen	Spleen
4	chr14:65706800-65716200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:65707000-65716200	Weak transcription	Brain Anterior Caudate	brain
6	chr14:65708400-65716200	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:65708400-65716200	Weak transcription	Brain Substantia Nigra	brain
8	chr14:65709000-65713200	Enhancers	Fetal Intestine Large	intestine
9	chr14:65709200-65711400	Flanking Active TSS	A549	lung
10	chr14:65709600-65711200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr14:65709800-65711200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:65709800-65711600	Enhancers	NH-A	brain
13	chr14:65710000-65711400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr14:65710000-65711600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:65710000-65711800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:65710000-65712800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:65710400-65711200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr14:65710400-65711200	Enhancers	HMEC	breast
19	chr14:65710400-65711200	Enhancers	HSMM	muscle
20	chr14:65710400-65711200	Enhancers	NHLF	lung
21	chr14:65710400-65711400	Enhancers	NHDF-Ad	bronchial
22	chr14:65710400-65711600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr14:65710400-65711600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr14:65710400-65711600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:65710400-65711600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr14:65710400-65711600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr14:65710400-65711600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:65710400-65711600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr14:65710400-65711600	Enhancers	Fetal Thymus	thymus
30	chr14:65710400-65711600	Enhancers	Small Intestine	intestine
31	chr14:65710400-65711800	Enhancers	Stomach Mucosa	stomach
32	chr14:65710600-65711200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:65710600-65711200	Enhancers	Duodenum Mucosa	Duodenum
34	chr14:65710600-65711200	Enhancers	Thymus	Thymus
35	chr14:65710600-65711200	Enhancers	NHEK	skin
36	chr14:65710600-65711200	Enhancers	Osteobl	bone
37	chr14:65710600-65711400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:65710600-65711400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:65710600-65711400	Enhancers	GM12878-XiMat	blood
40	chr14:65710600-65711600	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr14:65710600-65711600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr14:65710600-65711600	Flanking Active TSS	HUVEC	blood vessel
43	chr14:65710600-65712800	Enhancers	Primary T cells from cord blood	blood
44	chr14:65710800-65711200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr14:65710800-65711200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr14:65710800-65711200	Flanking Active TSS	K562	blood
47	chr14:65710800-65711200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr14:65710800-65711600	Enhancers	Primary hematopoietic stem cells	blood
49	chr14:65710800-65711600	Flanking Active TSS	Dnd41	blood
50	chr14:65710800-65716800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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