Variant report

Variant	nsv1313
Chromosome Location	chr14:66410061-66437297
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:66410164..66412047-chr14:66415656..66417761,2	MCF-7	breast:
2	chr14:66409655..66412849-chr14:66417225..66419477,3	MCF-7	breast:
3	chr14:66427325..66428411-chr14:66537144..66538123,6	MCF-7	breast:
4	chr14:66433052..66435993-chr14:66437879..66439711,3	K562	blood:
5	chr14:66396499..66397053-chr14:66425648..66426403,2	MCF-7	breast:
6	chr14:66425922..66427142-chr14:66536724..66537891,6	MCF-7	breast:
7	chr14:66416957..66418575-chr14:66539864..66542721,2	MCF-7	breast:
8	chr14:66427635..66428321-chr14:66861572..66862456,2	MCF-7	breast:
9	chr14:66410164..66412047-chr14:66415656..66417761,2	MCF-7	breast:
10	chr14:65876878..65880763-chr14:66413907..66416423,3	MCF-7	breast:
11	chr14:66414502..66416771-chr14:66536392..66538001,2	MCF-7	breast:
12	chr14:66409655..66412849-chr14:66417225..66419477,3	MCF-7	breast:
13	chr14:66404813..66406809-chr14:66413591..66416552,2	MCF-7	breast:
14	chr14:65628473..65630943-chr14:66425441..66427693,2	MCF-7	breast:
15	chr14:66425926..66426823-chr14:66537370..66538030,2	MCF-7	breast:
16	chr14:66407663..66410728-chr14:66412233..66417001,4	K562	blood:
17	chr14:66407238..66409314-chr14:66412717..66414386,2	MCF-7	breast:
18	chr14:66427400..66429193-chr14:66535777..66538129,25	MCF-7	breast:
19	chr14:66407663..66410306-chr14:66414738..66417001,2	K562	blood:
20	chr14:65881389..65882114-chr14:66425535..66426219,3	MCF-7	breast:
21	chr14:66281810..66282561-chr14:66425521..66426262,2	MCF-7	breast:
22	chr14:66291136..66291696-chr14:66425702..66426318,2	MCF-7	breast:
23	chr14:65630510..65631490-chr14:66425640..66426199,2	K562	blood:
24	chr14:66407663..66410728-chr14:66412233..66417001,4	K562	blood:
25	chr14:66428978..66429819-chr14:66537577..66538194,2	K562	blood:
26	chr14:66407663..66410306-chr14:66414738..66417001,2	K562	blood:
27	chr14:66291364..66292041-chr14:66427887..66428391,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000033170	chromatin interactions

Extended variants
information (count: 1047 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1047 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557272221	chr14:66410132-66410133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544066549	chr14:66410133-66410134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs137974211	chr14:66410140-66410141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201978038	chr14:66410153-66410154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540085913	chr14:66410154-66410155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552561322	chr14:66410219-66410220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115689573	chr14:66410281-66410282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528532982	chr14:66410291-66410292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149464464	chr14:66410347-66410348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116808404	chr14:66410360-66410361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373993783	chr14:66410390-66410391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536827828	chr14:66410400-66410401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76790303	chr14:66410465-66410466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78917631	chr14:66410561-66410562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184790964	chr14:66410594-66410595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377562299	chr14:66410624-66410625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145937792	chr14:66410656-66410657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550110341	chr14:66410690-66410691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139780171	chr14:66410707-66410708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374714768	chr14:66410708-66410709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140066353	chr14:66410726-66410727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575965140	chr14:66410749-66410750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575241662	chr14:66410775-66410776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17753956	chr14:66410821-66410822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28492007	chr14:66410833-66410834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532601066	chr14:66410843-66410844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114988421	chr14:66410856-66410857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559838268	chr14:66410960-66410961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143013913	chr14:66411045-66411046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548590735	chr14:66411057-66411058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146129891	chr14:66411062-66411063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377430975	chr14:66411089-66411090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148761954	chr14:66411096-66411097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28489937	chr14:66411112-66411113	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188224383	chr14:66411128-66411129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376074322	chr14:66411129-66411130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555373670	chr14:66411150-66411151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12147962	chr14:66411154-66411155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs180974296	chr14:66411162-66411163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540703857	chr14:66411205-66411206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34571228	chr14:66411238-66411239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35902729	chr14:66411247-66411248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535085414	chr14:66411273-66411274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183606490	chr14:66411285-66411286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142397414	chr14:66411317-66411318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12147958	chr14:66411326-66411327	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532890256	chr14:66411339-66411340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545148078	chr14:66411347-66411348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563158466	chr14:66411367-66411368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150858840	chr14:66411448-66411449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	20164919	CNVD
Cancer	17440070	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66404600-66415000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:66404600-66415200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:66405000-66416400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:66405400-66410200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:66405400-66416600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:66408200-66410600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:66408400-66415000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:66408800-66415000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:66409600-66410800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr14:66409800-66410400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr14:66409800-66410400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr14:66409800-66410600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:66409800-66410800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr14:66409800-66411400	Enhancers	Primary T cells from cord blood	blood
15	chr14:66409800-66411600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:66410000-66410600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr14:66410000-66410600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:66410000-66410800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr14:66410200-66410400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:66410200-66410800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr14:66410400-66414000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:66410400-66414600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:66410600-66410800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:66410600-66415800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:66410600-66416000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:66410600-66416200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr14:66410800-66411200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:66410800-66415000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr14:66410800-66416200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:66410800-66416200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:66410800-66416200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:66411400-66416200	Weak transcription	Primary T cells from cord blood	blood
33	chr14:66411600-66411800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:66411600-66416400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:66411800-66415000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:66412400-66412600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr14:66412600-66412800	Enhancers	Spleen	Spleen
38	chr14:66412600-66413000	Enhancers	Placenta	Placenta
39	chr14:66412600-66413400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr14:66412800-66417200	Weak transcription	Spleen	Spleen
41	chr14:66413000-66413200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:66413200-66424200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:66413400-66414200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr14:66413600-66413800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr14:66413600-66413800	Enhancers	Fetal Heart	heart
46	chr14:66413800-66415000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr14:66414000-66415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:66414600-66414800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:66414800-66415200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:66414800-66415600	Enhancers	Placenta	Placenta

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