Variant report

Variant	nsv1044363
Chromosome Location	chr14:65850832-65870128
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65854015..65856643-chr14:65859496..65861468,2	K562	blood:
2	chr14:65868206..65869815-chr14:65870159..65873099,2	K562	blood:
3	chr14:65864996..65866526-chr14:65868395..65870395,2	K562	blood:
4	chr14:65864996..65866526-chr14:65868395..65870395,2	K562	blood:
5	chr14:65862260..65865116-chr14:65877901..65880398,3	MCF-7	breast:
6	chr14:65870073..65871791-chr14:65877472..65880048,2	K562	blood:
7	chr14:65858309..65860376-chr14:65878138..65880007,2	MCF-7	breast:
8	chr14:65854015..65856643-chr14:65859496..65861468,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAX-10	chr14:65857081-65857420	NONHSAT037388

No data

Variant related genes	Relation type
ENSG00000033170	chromatin interactions

Extended variants
information (count: 700 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:700 , 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	rs578105315	chr14:65850841-65850842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28502530	chr14:65850968-65850969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553949400	chr14:65850992-65850993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573967435	chr14:65851022-65851023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542930042	chr14:65851028-65851029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562725701	chr14:65851055-65851056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531758833	chr14:65851079-65851080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10083421	chr14:65851158-65851159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181730354	chr14:65851160-65851161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115653387	chr14:65851210-65851211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186080177	chr14:65851296-65851297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567488674	chr14:65851403-65851404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529980078	chr14:65851483-65851484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10083525	chr14:65851556-65851557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112744368	chr14:65851592-65851593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112218757	chr14:65851607-65851608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79719203	chr14:65851627-65851628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576733416	chr14:65851639-65851640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369301924	chr14:65851640-65851641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573938392	chr14:65851687-65851688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535045794	chr14:65851702-65851703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576582285	chr14:65851708-65851709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558279861	chr14:65851734-65851735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545441910	chr14:65851735-65851736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112614505	chr14:65851776-65851777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199834289	chr14:65851786-65851787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534434723	chr14:65851815-65851816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553914469	chr14:65851836-65851837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565250599	chr14:65851868-65851869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142299062	chr14:65851869-65851870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542890966	chr14:65851903-65851904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556860918	chr14:65851906-65851907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576348403	chr14:65851907-65851908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143167776	chr14:65851908-65851909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542421618	chr14:65851957-65851958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527755524	chr14:65851967-65851968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541551248	chr14:65851968-65851969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561045443	chr14:65851989-65851990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529965162	chr14:65852016-65852017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17826448	chr14:65852017-65852018	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs111899520	chr14:65852084-65852085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201156414	chr14:65852085-65852086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530273435	chr14:65852102-65852103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17180994	chr14:65852108-65852109	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs148248417	chr14:65852131-65852132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73282213	chr14:65852139-65852140	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs17826466	chr14:65852170-65852171	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534399656	chr14:65852262-65852263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139214811	chr14:65852288-65852289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528851832	chr14:65852345-65852346	Enhancers Weak transcription	n/a	n/a	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
Hypoplastic left heart syndrome	22349727	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65848000-65851800	Weak transcription	Primary B cells from cord blood	blood
2	chr14:65849400-65861800	Weak transcription	Brain Substantia Nigra	brain
3	chr14:65851800-65852400	Enhancers	Primary B cells from cord blood	blood
4	chr14:65851800-65852600	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:65852200-65852400	Enhancers	GM12878-XiMat	blood
6	chr14:65852800-65854000	Weak transcription	GM12878-XiMat	blood
7	chr14:65854000-65854200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:65854000-65854200	Enhancers	GM12878-XiMat	blood
9	chr14:65854000-65854400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr14:65854000-65854400	Enhancers	Fetal Thymus	thymus
11	chr14:65854200-65854600	Flanking Active TSS	GM12878-XiMat	blood
12	chr14:65854600-65855200	Enhancers	GM12878-XiMat	blood
13	chr14:65858200-65860000	Enhancers	Placenta	Placenta
14	chr14:65858800-65859000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:65859000-65859400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:65859000-65860000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:65859400-65859600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:65860200-65874600	Weak transcription	Stomach Mucosa	stomach
19	chr14:65861800-65862000	ZNF genes & repeats	Brain Substantia Nigra	brain
20	chr14:65861800-65862400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:65862600-65863600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
22	chr14:65863600-65864600	Enhancers	Primary B cells from peripheral blood	blood
23	chr14:65864200-65864400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:65864400-65878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:65864800-65865200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:65868000-65869600	Enhancers	Placenta	Placenta
27	chr14:65868800-65869000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:65869000-65877800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:65869400-65871600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:65869600-65870200	Enhancers	Duodenum Mucosa	Duodenum
31	chr14:65869600-65870400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:65869600-65870400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:65869600-65870400	Enhancers	NHDF-Ad	bronchial
34	chr14:65869600-65870600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:65869600-65870600	Enhancers	Osteobl	bone
36	chr14:65869800-65870400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:65870000-65870400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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