Variant report

Variant	nsv1054056
Chromosome Location	chr14:66848234-66946135
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:22)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:66588235..66589171-chr14:66861977..66862698,2	MCF-7	breast:
2	chr14:66825542..66826429-chr14:66862069..66862684,3	MCF-7	breast:
3	chr14:66921061..66923583-chr14:66926009..66928849,2	K562	blood:
4	chr14:66866554..66868099-chr14:66868924..66870694,2	MCF-7	breast:
5	chr14:66868780..66871724-chr14:66974214..66976243,2	MCF-7	breast:
6	chr14:66868171..66869202-chr14:67212732..67213746,3	MCF-7	breast:
7	chr14:66872037..66873907-chr14:66876295..66878108,2	MCF-7	breast:
8	chr14:66916774..66918358-chr14:67561566..67563280,2	K562	blood:
9	chr14:66903059..66904771-chr14:66907431..66909809,2	MCF-7	breast:
10	chr14:66826086..66826716-chr14:66868369..66868913,2	MCF-7	breast:
11	chr14:66867904..66868628-chr14:67128968..67129850,2	MCF-7	breast:
12	chr14:66866554..66868099-chr14:66868924..66870694,2	MCF-7	breast:
13	chr14:66825773..66826732-chr14:66861672..66862671,3	MCF-7	breast:
14	chr14:66844529..66846704-chr14:66848786..66851261,3	MCF-7	breast:
15	chr14:66427635..66428321-chr14:66861572..66862456,2	MCF-7	breast:
16	chr14:66867855..66868382-chr14:67076673..67077298,2	MCF-7	breast:
17	chr14:66872037..66873907-chr14:66876295..66878108,2	MCF-7	breast:
18	chr14:66921061..66923583-chr14:66926009..66928849,2	K562	blood:
19	chr14:66903059..66904771-chr14:66907431..66909809,2	MCF-7	breast:
20	chr14:66826294..66826807-chr14:66869300..66870066,2	NB4	blood:
21	chr14:66929301..66930920-chr14:66959278..66961001,2	K562	blood:
22	chr14:66869840..66870579-chr14:67035035..67035552,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPHN-3	chr14:66867622-66868180	NONHSAT037416
2	lnc-GPHN-3	chr14:66897067-66897078	NONHSAT037416
3	lnc-GPHN-3	chr14:66896639-66896961	NONHSAT037416
4	lnc-CTD-2014B16.3.1-1	chr14:66908663-66908837	XLOC_011056
5	lnc-GPHN-3	chr14:66855024-66855098	NONHSAT037416
6	lnc-GPHN-3	chr14:66873952-66874333	NONHSAT037416
7	lnc-CTD-2014B16.3.1-1	chr14:66908663-66908837	XLOC_011056
8	lnc-CTD-2014B16.3.1-1	chr14:66926483-66927208	XLOC_011056
9	lnc-CTD-2014B16.3.1-1	chr14:66912788-66912979	XLOC_011056
10	lnc-CTD-2014B16.3.1-1	chr14:66912788-66912853	XLOC_011056

No data

Variant related genes	Relation type
ENSG00000258561	chromatin interactions
ENSG00000171723	chromatin interactions
CDC37L1	miRNA target sites
CDC34	miRNA target sites
ABCA1	miRNA target sites

Extended variants
information (count: 2765 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2765 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570850677	chr14:66848268-66848269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182041755	chr14:66848338-66848339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546897731	chr14:66848433-66848434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139988753	chr14:66848470-66848471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372786619	chr14:66848475-66848476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374790001	chr14:66848504-66848505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575094217	chr14:66848531-66848532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368122322	chr14:66848591-66848592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537974550	chr14:66848592-66848593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557551760	chr14:66848595-66848596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145820307	chr14:66848599-66848600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539818013	chr14:66848694-66848695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10135880	chr14:66848820-66848821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs573536085	chr14:66848847-66848848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546555069	chr14:66848910-66848911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148973343	chr14:66848912-66848913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10138300	chr14:66848965-66848966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530988277	chr14:66848967-66848968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186261015	chr14:66848979-66848980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564398981	chr14:66848986-66848987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10149072	chr14:66849018-66849019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs145770583	chr14:66849027-66849028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139151389	chr14:66849033-66849034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558900851	chr14:66849037-66849038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566521453	chr14:66849075-66849076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76177159	chr14:66849084-66849085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548845440	chr14:66849156-66849157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28563967	chr14:66849183-66849184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs578202843	chr14:66849184-66849185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537609775	chr14:66849211-66849212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80075248	chr14:66849219-66849220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577618524	chr14:66849237-66849238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146587120	chr14:66849247-66849248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553842168	chr14:66849264-66849265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573674497	chr14:66849314-66849315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115443852	chr14:66849315-66849316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556077640	chr14:66849447-66849448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575818931	chr14:66849452-66849453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201017572	chr14:66849460-66849461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189069773	chr14:66849473-66849474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564615742	chr14:66849647-66849648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181296876	chr14:66849674-66849675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185557431	chr14:66849683-66849684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560143688	chr14:66849726-66849727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371611221	chr14:66849746-66849747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185161461	chr14:66849747-66849748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141294988	chr14:66849756-66849757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569028274	chr14:66849772-66849773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531535633	chr14:66849780-66849781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145028055	chr14:66849814-66849815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66840600-66851000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:66842200-66848600	Weak transcription	Fetal Brain Female	brain
3	chr14:66842400-66850800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:66845400-66850600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:66846000-66849800	Enhancers	Brain Anterior Caudate	brain
6	chr14:66846600-66848400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:66846800-66849400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:66846800-66855400	Weak transcription	Esophagus	oesophagus
9	chr14:66847200-66849000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:66847200-66849200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:66847200-66849400	Weak transcription	HMEC	breast
12	chr14:66847200-66849400	Weak transcription	NHEK	skin
13	chr14:66847200-66849600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:66847200-66850200	Weak transcription	Fetal Kidney	kidney
15	chr14:66847400-66849200	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:66847400-66850600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr14:66847600-66848600	Weak transcription	Ovary	ovary
18	chr14:66847600-66848800	Weak transcription	Right Atrium	heart
19	chr14:66847600-66849400	Weak transcription	Adipose Nuclei	Adipose
20	chr14:66847600-66849400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:66847600-66849800	Weak transcription	Pancreas	Pancrea
22	chr14:66847600-66850000	Weak transcription	Left Ventricle	heart
23	chr14:66847800-66849000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:66847800-66849800	Weak transcription	Brain Germinal Matrix	brain
25	chr14:66848200-66848600	Enhancers	Brain Cingulate Gyrus	brain
26	chr14:66848200-66850800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr14:66848400-66849400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:66848600-66848800	Enhancers	Fetal Brain Female	brain
29	chr14:66848600-66848800	Enhancers	Ovary	ovary
30	chr14:66848600-66849000	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr14:66849000-66850200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:66849000-66850400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:66849200-66849400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:66849200-66849400	Enhancers	Right Atrium	heart
35	chr14:66849200-66849600	Enhancers	Brain Hippocampus Middle	brain
36	chr14:66849200-66850000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:66849400-66849600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:66849400-66849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:66849400-66850200	Enhancers	HMEC	breast
40	chr14:66849400-66850200	Enhancers	NHEK	skin
41	chr14:66849400-66850400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr14:66849400-66850400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:66849400-66850400	Enhancers	Adipose Nuclei	Adipose
44	chr14:66849400-66850600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr14:66849400-66850600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:66849400-66850800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr14:66849400-66850800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr14:66849400-66851000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr14:66849400-66851600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr14:66849600-66850000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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