Variant report

Variant	nsv521739
Chromosome Location	chr14:66880362-66930258
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:6)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:66929301..66930920-chr14:66959278..66961001,2	K562	blood:
2	chr14:66903059..66904771-chr14:66907431..66909809,2	MCF-7	breast:
3	chr14:66916774..66918358-chr14:67561566..67563280,2	K562	blood:
4	chr14:66921061..66923583-chr14:66926009..66928849,2	K562	blood:
5	chr14:66903059..66904771-chr14:66907431..66909809,2	MCF-7	breast:
6	chr14:66921061..66923583-chr14:66926009..66928849,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPHN-3	chr14:66896639-66896961	NONHSAT037416
2	lnc-GPHN-3	chr14:66897067-66897078	NONHSAT037416
3	lnc-CTD-2014B16.3.1-1	chr14:66912788-66912979	XLOC_011056
4	lnc-CTD-2014B16.3.1-1	chr14:66912788-66912853	XLOC_011056
5	lnc-CTD-2014B16.3.1-1	chr14:66926483-66927208	XLOC_011056
6	lnc-CTD-2014B16.3.1-1	chr14:66908663-66908837	XLOC_011056
7	lnc-CTD-2014B16.3.1-1	chr14:66908663-66908837	XLOC_011056

No data

Variant related genes	Relation type
CDC37L1	miRNA target sites
CDC34	miRNA target sites
ABCA1	miRNA target sites

Extended variants
information (count: 1134 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1134 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12588933	chr14:66880362-66880363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181739727	chr14:66880379-66880380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12100939	chr14:66880454-66880455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117460544	chr14:66880477-66880478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540491220	chr14:66880538-66880539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560336984	chr14:66880586-66880587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148288790	chr14:66880608-66880609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116937772	chr14:66880648-66880649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9332388	chr14:66880662-66880663	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs186977160	chr14:66880708-66880709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528319723	chr14:66880743-66880744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs716234	chr14:66880791-66880792	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs191811481	chr14:66880823-66880824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183145373	chr14:66880842-66880843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17182420	chr14:66880847-66880848	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567480439	chr14:66880896-66880897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536100392	chr14:66880906-66880907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs716232	chr14:66880949-66880950	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs146280991	chr14:66880954-66880955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs716233	chr14:66881016-66881017	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs188181955	chr14:66881020-66881021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367715227	chr14:66881102-66881103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558285635	chr14:66881121-66881122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571679671	chr14:66881148-66881149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540528209	chr14:66881183-66881184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139394139	chr14:66881185-66881186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569278479	chr14:66881194-66881195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72724513	chr14:66881258-66881259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs117035464	chr14:66881332-66881333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142603615	chr14:66881356-66881357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376735613	chr14:66881367-66881368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563081974	chr14:66881371-66881372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531726118	chr14:66881437-66881438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190134841	chr14:66881464-66881465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551821636	chr14:66881469-66881470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534160284	chr14:66881513-66881514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376670342	chr14:66881564-66881565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571669787	chr14:66881643-66881644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370092223	chr14:66881651-66881652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372350426	chr14:66881684-66881685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117346841	chr14:66881687-66881688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17827391	chr14:66881740-66881741	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs567612755	chr14:66881758-66881759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536528268	chr14:66881778-66881779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79898771	chr14:66881821-66881822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569800054	chr14:66881837-66881838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139516129	chr14:66881906-66881907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558183351	chr14:66881916-66881917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72724514	chr14:66881928-66881929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534362845	chr14:66881959-66881960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66879200-66881200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:66880400-66881800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:66881200-66881600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:66881800-66887000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:66886200-66887000	Enhancers	Fetal Kidney	kidney
6	chr14:66886800-66887400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:66887000-66887200	Enhancers	Fetal Heart	heart
8	chr14:66887000-66888000	Weak transcription	Fetal Kidney	kidney
9	chr14:66887000-66889400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:66887200-66888600	Weak transcription	Fetal Heart	heart
11	chr14:66888000-66888200	Enhancers	Fetal Kidney	kidney
12	chr14:66888200-66888600	Weak transcription	Fetal Kidney	kidney
13	chr14:66888600-66889400	Enhancers	Fetal Kidney	kidney
14	chr14:66888600-66889600	Enhancers	Fetal Heart	heart
15	chr14:66888800-66889000	Enhancers	Liver	Liver
16	chr14:66888800-66889800	Enhancers	Pancreas	Pancrea
17	chr14:66889000-66889600	Active TSS	Duodenum Mucosa	Duodenum
18	chr14:66889000-66890000	Flanking Active TSS	Liver	Liver
19	chr14:66889200-66889400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr14:66889400-66889800	Flanking Active TSS	Fetal Kidney	kidney
21	chr14:66889400-66891600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:66889600-66891000	Weak transcription	Fetal Heart	heart
23	chr14:66889800-66890000	Enhancers	Fetal Kidney	kidney
24	chr14:66889800-66891600	Weak transcription	Pancreas	Pancrea
25	chr14:66890000-66892600	Enhancers	Liver	Liver
26	chr14:66890000-66898800	Weak transcription	Fetal Kidney	kidney
27	chr14:66891000-66894400	Enhancers	Fetal Heart	heart
28	chr14:66891600-66891800	Enhancers	Pancreas	Pancrea
29	chr14:66891600-66891800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr14:66891600-66892200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr14:66891600-66893400	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr14:66891800-66892600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:66892200-66892600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr14:66892600-66892800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr14:66892600-66893000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr14:66892800-66895800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:66894400-66898000	Weak transcription	Fetal Heart	heart
38	chr14:66896000-66896600	Enhancers	Brain Germinal Matrix	brain
39	chr14:66896000-66897000	Enhancers	Fetal Brain Male	brain
40	chr14:66896400-66897200	Enhancers	Fetal Brain Female	brain
41	chr14:66898000-66899000	Enhancers	Fetal Heart	heart
42	chr14:66898400-66900600	Enhancers	Liver	Liver
43	chr14:66898800-66900000	Enhancers	Fetal Kidney	kidney
44	chr14:66902600-66903200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr14:66908800-66913200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:66908800-66913400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr14:66909000-66909200	Enhancers	Fetal Kidney	kidney
48	chr14:66909000-66909200	Enhancers	Fetal Muscle Leg	muscle
49	chr14:66909000-66910600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:66909000-66913200	Enhancers	Fetal Brain Female	brain

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