Variant report

Variant	nsv1036604
Chromosome Location	chr14:66698351-66829205
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:19)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:66709204..66711912-chr14:66719252..66721670,2	MCF-7	breast:
2	chr11:36171264..36171928-chr14:66734278..66734780,2	MCF-7	breast:
3	chr14:66725117..66725617-chr3:38044558..38045262,2	MCF-7	breast:
4	chr14:66691660..66694411-chr14:66704319..66706775,2	MCF-7	breast:
5	chr14:66747427..66750412-chr14:66751043..66753662,3	MCF-7	breast:
6	chr14:66747427..66750412-chr14:66751043..66753662,3	MCF-7	breast:
7	chr14:66825542..66826429-chr14:66862069..66862684,3	MCF-7	breast:
8	chr14:66696991..66699499-chr14:66704656..66706344,2	MCF-7	breast:
9	chr14:66826294..66826807-chr14:66869300..66870066,2	NB4	blood:
10	chr14:66825773..66826732-chr14:66861672..66862671,3	MCF-7	breast:
11	chr14:66735910..66737746-chr14:66747875..66749421,2	MCF-7	breast:
12	chr14:66826252..66826789-chr14:66844012..66844547,2	MCF-7	breast:
13	chr14:66696991..66699499-chr14:66704656..66706344,2	MCF-7	breast:
14	chr14:66702275..66703801-chr2:238394869..238397413,2	MCF-7	breast:
15	chr14:66729166..66732128-chr14:66733699..66735617,2	K562	blood:
16	chr14:66709204..66711912-chr14:66719252..66721670,2	MCF-7	breast:
17	chr14:66735910..66737746-chr14:66747875..66749421,2	MCF-7	breast:
18	chr14:66729166..66732128-chr14:66733699..66735617,2	K562	blood:
19	chr14:66826086..66826716-chr14:66868369..66868913,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2014B16.3.1-2	chr14:66715924-66715952	ENSG00000258561
2	lnc-GPHN-3	chr14:66734293-66734727	NONHSAT037416

No data

Variant related genes	Relation type
ENSG00000115648	chromatin interactions

Extended variants
information (count: 2519 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2519 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558669852	chr14:66698381-66698382	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs555348213	chr14:66698385-66698386	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs572097936	chr14:66698409-66698410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541023851	chr14:66698415-66698416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565700730	chr14:66698430-66698431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115243364	chr14:66698432-66698433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563667965	chr14:66698440-66698441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574615106	chr14:66698451-66698452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199651655	chr14:66698452-66698453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145064052	chr14:66698537-66698538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534811575	chr14:66698668-66698669	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375129166	chr14:66698679-66698680	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571801786	chr14:66698705-66698706	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545905381	chr14:66698754-66698755	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72720451	chr14:66698803-66698804	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192895654	chr14:66698822-66698823	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547849418	chr14:66698835-66698836	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138852447	chr14:66698836-66698837	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530314911	chr14:66698842-66698843	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72720452	chr14:66698874-66698875	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs558208494	chr14:66698904-66698905	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142020625	chr14:66698905-66698906	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565993042	chr14:66698939-66698940	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117587390	chr14:66698945-66698946	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11625028	chr14:66698956-66698957	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554632503	chr14:66698967-66698968	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574809615	chr14:66698977-66698978	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372327510	chr14:66698982-66698983	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557332947	chr14:66699001-66699002	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2228682	chr14:66699051-66699052	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150833886	chr14:66699068-66699069	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs33925292	chr14:66699073-66699074	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12588989	chr14:66699082-66699083	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35080279	chr14:66699084-66699085	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540052274	chr14:66699097-66699098	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559612309	chr14:66699148-66699149	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577797518	chr14:66699163-66699164	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10132014	chr14:66699170-66699171	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541945572	chr14:66699188-66699189	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561508654	chr14:66699217-66699218	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs187816041	chr14:66699237-66699238	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs550049533	chr14:66699243-66699244	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs569972345	chr14:66699273-66699274	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs532667894	chr14:66699280-66699281	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs567540070	chr14:66699314-66699315	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs76878618	chr14:66699316-66699317	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs10431710	chr14:66699323-66699324	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs566277356	chr14:66699374-66699375	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs534791701	chr14:66699375-66699376	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs555074473	chr14:66699422-66699423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66695800-66698400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:66697400-66699400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:66697800-66701000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr14:66698200-66698400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr14:66698400-66698800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:66698400-66699200	Enhancers	Primary B cells from cord blood	blood
7	chr14:66698600-66699400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr14:66699400-66700800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:66699800-66701200	Enhancers	Lung	lung
10	chr14:66700000-66700200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:66700000-66701400	Enhancers	Fetal Stomach	stomach
12	chr14:66700800-66704800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:66701000-66701200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:66701000-66701800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:66701000-66701800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:66701200-66704000	Weak transcription	Lung	lung
17	chr14:66701800-66702000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:66701800-66702200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:66701800-66704600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:66704000-66707200	Enhancers	Brain Germinal Matrix	brain
21	chr14:66704200-66704600	Enhancers	Fetal Brain Female	brain
22	chr14:66704200-66707400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:66704400-66704600	Enhancers	Lung	lung
24	chr14:66704600-66704800	Enhancers	Brain Cingulate Gyrus	brain
25	chr14:66704600-66705400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr14:66704600-66706600	Enhancers	Adipose Nuclei	Adipose
27	chr14:66704600-66707000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:66704600-66708400	Weak transcription	Fetal Brain Female	brain
29	chr14:66704800-66705200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:66704800-66705600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:66704800-66707000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:66705200-66707400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:66705400-66705600	Enhancers	Lung	lung
34	chr14:66705600-66706000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:66707000-66708400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:66707400-66707800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:66707800-66710000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr14:66708200-66708800	Enhancers	Fetal Brain Male	brain
39	chr14:66708400-66708800	Enhancers	Fetal Brain Female	brain
40	chr14:66708400-66710000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:66708800-66712200	Weak transcription	Fetal Brain Male	brain
42	chr14:66708800-66712200	Weak transcription	Fetal Brain Female	brain
43	chr14:66709000-66709200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:66710000-66714400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:66710000-66714800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:66710800-66711800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr14:66710800-66712000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:66711000-66711600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr14:66711200-66711800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr14:66711200-66711800	Enhancers	HUES64 Cell Line	embryonic stem cell

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