Variant report

Variant	nsv976853
Chromosome Location	chr14:65708032-65723266
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:39)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65710525..65712418-chr14:65882853..65884868,2	MCF-7	breast:
2	chr14:65630625..65634047-chr14:65708648..65711135,3	MCF-7	breast:
3	chr14:65708389..65714331-chr14:65715596..65724154,17	MCF-7	breast:
4	chr14:65696604..65698657-chr14:65706204..65708336,3	K562	blood:
5	chr14:65708443..65711390-chr14:65727270..65732025,4	MCF-7	breast:
6	chr14:65708389..65714331-chr14:65715596..65724154,17	MCF-7	breast:
7	chr14:65691185..65703550-chr14:65706694..65715001,23	MCF-7	breast:
8	chr14:65720634..65723404-chr14:65821648..65825451,4	MCF-7	breast:
9	chr14:65567923..65569908-chr14:65720468..65722497,2	MCF-7	breast:
10	chr14:65702798..65707565-chr14:65719899..65724349,7	MCF-7	breast:
11	chr14:65709860..65711374-chr14:65803916..65806781,2	MCF-7	breast:
12	chr14:65703752..65707201-chr14:65707603..65710596,4	MCF-7	breast:
13	chr14:65721905..65725444-chr14:65725472..65730269,4	MCF-7	breast:
14	chr14:65721103..65724002-chr14:65886062..65888088,2	MCF-7	breast:
15	chr14:65721681..65725033-chr14:65872611..65875727,3	MCF-7	breast:
16	chr14:65716874..65719656-chr14:65720391..65721945,2	MCF-7	breast:
17	chr14:65689123..65699940-chr14:65718655..65726829,32	MCF-7	breast:
18	chr14:65583698..65586091-chr14:65722041..65724216,2	MCF-7	breast:
19	chr14:65583338..65585299-chr14:65708352..65712057,3	MCF-7	breast:
20	chr14:65707878..65709895-chr14:65801423..65803291,2	MCF-7	breast:
21	chr14:65687724..65702236-chr14:65717995..65729217,67	MCF-7	breast:
22	chr14:65709528..65711067-chr14:65712244..65714160,2	MCF-7	breast:
23	chr14:65718344..65729728-chr14:65875413..65882756,31	MCF-7	breast:
24	chr14:65703266..65707350-chr14:65709369..65712516,3	K562	blood:
25	chr14:65687275..65689393-chr14:65708965..65710587,2	MCF-7	breast:
26	chr14:65707546..65709332-chr14:65714126..65717111,2	K562	blood:
27	chr14:65720143..65726834-chr14:65876571..65883583,24	MCF-7	breast:
28	chr14:65689238..65689806-chr14:65721908..65722565,2	MCF-7	breast:
29	chr14:65708249..65716123-chr14:65876687..65882798,15	MCF-7	breast:
30	chr14:65716874..65719656-chr14:65720391..65721945,2	MCF-7	breast:
31	chr14:65720469..65722329-chr14:65885252..65888198,2	MCF-7	breast:
32	chr14:65722351..65723988-chr14:65745085..65747003,2	MCF-7	breast:
33	chr14:65722509..65724711-chr14:65800142..65803387,3	MCF-7	breast:
34	chr14:65709528..65711067-chr14:65712244..65714160,2	MCF-7	breast:
35	chr14:65720811..65723510-chr20:45874802..45876375,2	MCF-7	breast:
36	chr14:65721766..65724259-chr14:65752829..65756528,3	MCF-7	breast:
37	chr14:65707546..65709332-chr14:65714126..65717111,2	K562	blood:
38	chr14:65711767..65715817-chr14:65877100..65880952,4	MCF-7	breast:
39	chr14:65722451..65723961-chr14:65842364..65844574,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAX-2	chr14:65714356-65714846	XLOC_011054
2	lnc-MAX-3	chr14:65720419-65720624	ENSG00000258760.1
3	lnc-MAX-2	chr14:65708499-65709934	XLOC_011054

No data

Variant related genes	Relation type
ENSG00000033170	chromatin interactions
ENSG00000259078	chromatin interactions
ENSG00000125952	chromatin interactions
ENSG00000258878	chromatin interactions
ENSG00000255002	chromatin interactions
ENSG00000266740	chromatin interactions
NDE1	miRNA target sites
EIF2C1	miRNA target sites

Extended variants
information (count: 678 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:678 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368926579	chr14:65708059-65708060	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs12882039	chr14:65708067-65708068	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546222493	chr14:65708084-65708085	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs79803297	chr14:65708099-65708100	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs535218018	chr14:65708125-65708126	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs548327683	chr14:65708143-65708144	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568647484	chr14:65708155-65708156	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs537318579	chr14:65708163-65708164	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557611365	chr14:65708175-65708176	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs577503402	chr14:65708182-65708183	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs539834557	chr14:65708231-65708232	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531876817	chr14:65708238-65708239	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs144400522	chr14:65708246-65708247	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376494984	chr14:65708248-65708249	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs573330490	chr14:65708251-65708252	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs545244847	chr14:65708266-65708267	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs542356282	chr14:65708285-65708286	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs561700847	chr14:65708289-65708290	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs148764019	chr14:65708328-65708329	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs183482047	chr14:65708330-65708331	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs142179125	chr14:65708368-65708369	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs146329383	chr14:65708371-65708372	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs539837840	chr14:65708392-65708393	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs187513815	chr14:65708398-65708399	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs528915406	chr14:65708400-65708401	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs191927238	chr14:65708428-65708429	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs568888071	chr14:65708466-65708467	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs139648794	chr14:65708467-65708468	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs184107244	chr14:65708482-65708483	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs186905059	chr14:65708488-65708489	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs192623461	chr14:65708510-65708511	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs144298153	chr14:65708562-65708563	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs553364758	chr14:65708574-65708575	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs185622193	chr14:65708590-65708591	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs559037716	chr14:65708596-65708597	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs555806490	chr14:65708602-65708603	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs575680345	chr14:65708618-65708619	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs544384570	chr14:65708626-65708627	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs190441641	chr14:65708638-65708639	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs577467604	chr14:65708639-65708640	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs146535016	chr14:65708660-65708661	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs182088878	chr14:65708665-65708666	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs185448790	chr14:65708668-65708669	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs527843196	chr14:65708670-65708671	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs139699491	chr14:65708681-65708682	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs528837754	chr14:65708694-65708695	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs542292558	chr14:65708697-65708698	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs149737749	chr14:65708698-65708699	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs1256481	chr14:65708702-65708703	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566058570	chr14:65708727-65708728	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 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:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65697400-65710600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:65703200-65708600	Enhancers	Fetal Intestine Large	intestine
4	chr14:65703400-65711800	Enhancers	Fetal Intestine Small	intestine
5	chr14:65703600-65708400	Enhancers	Brain Substantia Nigra	brain
6	chr14:65704800-65710400	Weak transcription	Small Intestine	intestine
7	chr14:65705000-65710400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr14:65705000-65710600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:65706000-65710600	Weak transcription	NHEK	skin
10	chr14:65706400-65709600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:65706400-65710000	Weak transcription	Gastric	stomach
12	chr14:65706400-65710000	Weak transcription	K562	blood
13	chr14:65706600-65710400	Weak transcription	Pancreas	Pancrea
14	chr14:65706600-65710400	Weak transcription	HMEC	breast
15	chr14:65706600-65710400	Weak transcription	HSMM	muscle
16	chr14:65706600-65710600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:65706600-65718200	Weak transcription	Spleen	Spleen
18	chr14:65706800-65708200	Weak transcription	A549	lung
19	chr14:65706800-65709200	Weak transcription	NH-A	brain
20	chr14:65706800-65709800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:65706800-65709800	Weak transcription	NHLF	lung
22	chr14:65706800-65710400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:65706800-65710600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:65706800-65710600	Weak transcription	Osteobl	bone
25	chr14:65706800-65711000	Weak transcription	Hela-S3	cervix
26	chr14:65706800-65716200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:65707000-65708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:65707000-65708200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:65707000-65709200	Weak transcription	Stomach Mucosa	stomach
30	chr14:65707000-65709600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr14:65707000-65709800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:65707000-65709800	Weak transcription	Placenta	Placenta
33	chr14:65707000-65709800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:65707000-65710200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:65707000-65710400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:65707000-65710400	Weak transcription	NHDF-Ad	bronchial
37	chr14:65707000-65710600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:65707000-65710600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr14:65707000-65710800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr14:65707000-65716200	Weak transcription	Brain Anterior Caudate	brain
41	chr14:65707200-65708800	Weak transcription	HUVEC	blood vessel
42	chr14:65707600-65708600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:65708000-65708200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr14:65708000-65708200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr14:65708000-65708200	Enhancers	Brain Cingulate Gyrus	brain
46	chr14:65708000-65708400	Genic enhancers	Primary B cells from peripheral blood	blood
47	chr14:65708000-65708400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:65708000-65708400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:65708000-65708400	Enhancers	Brain Hippocampus Middle	brain
50	chr14:65708000-65708400	Enhancers	Fetal Thymus	thymus

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