Variant report

Variant	nsv983826
Chromosome Location	chr14:55273339-55282030
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:54973891..54976699-chr14:55272273..55274488,2	K562	blood:
2	chr14:55030910..55034480-chr14:55271107..55275366,4	K562	blood:
3	chr14:55275299..55276942-chr14:55278821..55281562,2	MCF-7	breast:
4	chr14:55032192..55035403-chr14:55273371..55275783,3	K562	blood:
5	chr14:55237445..55239866-chr14:55271701..55273428,2	K562	blood:
6	chr14:55272779..55274320-chr14:55276133..55278224,2	K562	blood:
7	chr14:55275299..55276942-chr14:55278821..55281562,2	MCF-7	breast:
8	chr14:55240781..55242402-chr14:55272682..55274467,2	K562	blood:
9	chr14:55031156..55033292-chr14:55272031..55274309,2	MCF-7	breast:
10	chr14:55271581..55274371-chr14:55277437..55280415,2	MCF-7	breast:
11	chr14:55040891..55043330-chr14:55270490..55273400,2	K562	blood:
12	chr14:55273057..55275787-chr14:55279144..55281055,2	K562	blood:
13	chr14:55272162..55274540-chr14:55368133..55370664,4	MCF-7	breast:
14	chr14:55271581..55274371-chr14:55277437..55280415,2	MCF-7	breast:
15	chr14:55273057..55275787-chr14:55279144..55281055,2	K562	blood:
16	chr14:55272779..55274320-chr14:55276133..55278224,2	K562	blood:
17	chr14:55279326..55281967-chr14:55362988..55365196,2	MCF-7	breast:
18	chr14:55270234..55274125-chr14:55367170..55370199,7	MCF-7	breast:
19	chr14:55279684..55281675-chr14:55367538..55369312,2	MCF-7	breast:
20	chr12:120727925..120730773-chr14:55272795..55274366,2	MCF-7	breast:
21	chr14:55276230..55279460-chr14:55367942..55370979,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000202538	chromatin interactions
ENSG00000131979	chromatin interactions
ENSG00000100532	chromatin interactions
ENSG00000020577	chromatin interactions

Extended variants
information (count: 338 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539545321	chr14:55273349-55273350	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs551362843	chr14:55273352-55273353	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs117918832	chr14:55273383-55273384	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs371825524	chr14:55273457-55273458	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs534237774	chr14:55273472-55273473	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs77617847	chr14:55273479-55273480	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs574229518	chr14:55273485-55273486	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs182314980	chr14:55273501-55273502	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs547769639	chr14:55273509-55273510	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs575456091	chr14:55273528-55273529	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs150689826	chr14:55273535-55273536	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs563942183	chr14:55273552-55273553	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs186640428	chr14:55273586-55273587	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs539825847	chr14:55273629-55273630	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs189801541	chr14:55273636-55273637	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs529143655	chr14:55273641-55273642	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs550409492	chr14:55273645-55273646	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs562297666	chr14:55273667-55273668	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs535129435	chr14:55273687-55273688	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs545112827	chr14:55273694-55273695	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs17127971	chr14:55273730-55273731	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139940756	chr14:55273737-55273738	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs531930839	chr14:55273744-55273745	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs566771527	chr14:55273749-55273750	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs34494615	chr14:55273769-55273770	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs79952416	chr14:55273781-55273782	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs184230053	chr14:55273793-55273794	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs149852127	chr14:55273974-55273975	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs538535038	chr14:55273975-55273976	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs556806161	chr14:55273980-55273981	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs571919169	chr14:55273999-55274000	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs117029219	chr14:55274185-55274186	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs114725616	chr14:55274252-55274253	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs369735143	chr14:55274275-55274276	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs188677157	chr14:55274278-55274279	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs34207678	chr14:55274311-55274312	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs563709892	chr14:55274321-55274322	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs117486223	chr14:55274334-55274335	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs146353853	chr14:55274337-55274338	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs573603509	chr14:55274345-55274346	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs193186369	chr14:55274358-55274359	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs185034341	chr14:55274386-55274387	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs562357249	chr14:55274401-55274402	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs376721604	chr14:55274428-55274429	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs546043075	chr14:55274482-55274483	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs117714728	chr14:55274493-55274494	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs552560484	chr14:55274494-55274495	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs117084609	chr14:55274522-55274523	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs139725205	chr14:55274535-55274536	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs549403299	chr14:55274551-55274552	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16397240	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55262000-55274800	Weak transcription	Spleen	Spleen
2	chr14:55272600-55274000	Weak transcription	Fetal Kidney	kidney
3	chr14:55272600-55276600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:55273000-55274000	Enhancers	HepG2	liver
5	chr14:55273000-55274200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:55273000-55274200	Weak transcription	Brain Substantia Nigra	brain
7	chr14:55273000-55274400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:55273000-55281400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:55273200-55273600	Weak transcription	HSMMtube	muscle
10	chr14:55273200-55273800	Weak transcription	GM12878-XiMat	blood
11	chr14:55273600-55274400	Enhancers	HSMMtube	muscle
12	chr14:55274000-55274200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr14:55274000-55274400	Enhancers	Fetal Kidney	kidney
14	chr14:55274000-55275600	Bivalent Enhancer	HepG2	liver
15	chr14:55274200-55274800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr14:55274400-55274600	Enhancers	Brain Substantia Nigra	brain
17	chr14:55274600-55274800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:55274800-55275000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:55274800-55275000	Enhancers	Spleen	Spleen
20	chr14:55275600-55275800	Enhancers	HepG2	liver
21	chr14:55276600-55276800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:55278800-55279000	Bivalent Enhancer	NHDF-Ad	bronchial
23	chr14:55279400-55280400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:55279600-55279800	Bivalent Enhancer	NHEK	skin
25	chr14:55279800-55280200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:55279800-55280400	Enhancers	NHEK	skin
27	chr14:55280000-55280400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:55280000-55280400	Enhancers	HMEC	breast
29	chr14:55280800-55281400	Enhancers	Osteobl	bone
30	chr14:55280800-55282200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:55281000-55282200	Enhancers	HSMM	muscle
32	chr14:55281200-55282400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:55281200-55284600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:55281400-55281800	Enhancers	HSMMtube	muscle
35	chr14:55281400-55281800	Flanking Active TSS	Osteobl	bone
36	chr14:55281400-55282000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:55281400-55282200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:55281400-55282200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr14:55281800-55282000	Enhancers	Adipose Nuclei	Adipose
40	chr14:55281800-55282000	Active TSS	Osteobl	bone
41	chr14:55281800-55284800	Weak transcription	HSMMtube	muscle
42	chr14:55282000-55282200	Flanking Active TSS	Osteobl	bone

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