Variant report

Variant	nsv565044
Chromosome Location	chr14:72317961-72336142
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:72316626..72318854-chr14:72330259..72331802,2	MCF-7	breast:
2	chr14:71570724..71571280-chr14:72321914..72322593,2	K562	blood:
3	chr14:72319702..72321484-chr14:72327900..72329836,2	MCF-7	breast:
4	chr14:72316626..72318854-chr14:72330259..72331802,2	MCF-7	breast:
5	chr14:72218474..72220315-chr14:72319928..72323369,3	MCF-7	breast:
6	chr14:72187408..72187995-chr14:72322024..72322774,2	MCF-7	breast:
7	chr14:72316415..72318148-chr14:72324477..72326524,2	MCF-7	breast:
8	chr14:72314229..72318890-chr14:72319811..72323615,5	MCF-7	breast:
9	chr14:71605408..71606120-chr14:72322432..72323318,2	K562	blood:
10	chr14:72319702..72321484-chr14:72327900..72329836,2	MCF-7	breast:
11	chr14:72316415..72318148-chr14:72324477..72326524,2	MCF-7	breast:
12	chr14:72219493..72220771-chr14:72321780..72322785,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266869	chromatin interactions

Extended variants
information (count: 280 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8019244	chr14:72317961-72317962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571111512	chr14:72317975-72317976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538404524	chr14:72318050-72318051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557878174	chr14:72318054-72318055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191930223	chr14:72318059-72318060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114394568	chr14:72318066-72318067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376623220	chr14:72318108-72318109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185767035	chr14:72318109-72318110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144532110	chr14:72318117-72318118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190270095	chr14:72318163-72318164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145596693	chr14:72318166-72318167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545613316	chr14:72318191-72318192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2533059	chr14:72318206-72318207	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs530610399	chr14:72318219-72318220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574695782	chr14:72318253-72318254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567276193	chr14:72318258-72318259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373290414	chr14:72318264-72318265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528030031	chr14:72318324-72318325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546498537	chr14:72318348-72318349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571206427	chr14:72318374-72318375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538475912	chr14:72318380-72318381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556723004	chr14:72318381-72318382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532961367	chr14:72318396-72318397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551223634	chr14:72318397-72318398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116653739	chr14:72318399-72318400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556192065	chr14:72318411-72318412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2533058	chr14:72318430-72318431	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573990777	chr14:72318431-72318432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536998496	chr14:72318456-72318457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541430385	chr14:72318482-72318483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12323886	chr14:72318511-72318512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187585608	chr14:72318519-72318520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2533057	chr14:72318520-72318521	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs190740897	chr14:72318526-72318527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563920555	chr14:72318535-72318536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575721062	chr14:72318567-72318568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183403830	chr14:72318573-72318574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542709669	chr14:72318580-72318581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560779990	chr14:72318623-72318624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528114573	chr14:72318631-72318632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149663881	chr14:72318634-72318635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2533056	chr14:72318648-72318649	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs564872039	chr14:72318651-72318652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113888907	chr14:72318659-72318660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553055395	chr14:72318691-72318692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550573852	chr14:72318712-72318713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569039709	chr14:72318749-72318750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111941076	chr14:72318776-72318777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151071950	chr14:72318781-72318782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561690148	chr14:72318797-72318798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72316000-72319000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:72316400-72319200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr14:72316600-72318000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr14:72316600-72319000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:72316600-72319200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:72316600-72322600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:72316800-72318800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:72317000-72318600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:72317000-72318800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:72318000-72318200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr14:72318200-72318600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:72318200-72319600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:72318600-72319600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr14:72318600-72319600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:72318800-72319600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:72318800-72319600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:72318800-72319600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:72318800-72319600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr14:72319000-72319200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:72319000-72319400	Enhancers	Right Ventricle	heart
21	chr14:72319000-72319400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr14:72319000-72319600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:72319000-72319600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:72319000-72319600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:72319000-72319600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:72319000-72319600	Enhancers	Fetal Heart	heart
27	chr14:72319200-72319600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:72319200-72319600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr14:72319600-72322800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:72319600-72322800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:72319600-72323000	Weak transcription	Fetal Heart	heart
32	chr14:72320800-72321000	Enhancers	Left Ventricle	heart
33	chr14:72320800-72321000	Enhancers	Spleen	Spleen
34	chr14:72321000-72323000	Weak transcription	Spleen	Spleen
35	chr14:72322400-72323000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:72322400-72323600	Enhancers	Primary B cells from peripheral blood	blood
37	chr14:72322400-72323600	Enhancers	Primary hematopoietic stem cells	blood
38	chr14:72322400-72323600	Enhancers	GM12878-XiMat	blood
39	chr14:72322400-72324000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:72322600-72323000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
41	chr14:72322600-72323600	Enhancers	Dnd41	blood
42	chr14:72322600-72324000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr14:72322800-72323200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:72322800-72323200	Enhancers	Hela-S3	cervix
45	chr14:72322800-72323200	Enhancers	K562	blood
46	chr14:72322800-72323400	Enhancers	HMEC	breast
47	chr14:72322800-72323600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:72322800-72323600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:72322800-72324000	Enhancers	Primary B cells from cord blood	blood
50	chr14:72323000-72323400	Enhancers	Fetal Heart	heart

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