Variant report

Variant	nsv85474
Chromosome Location	chr14:72031219-72034173
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72030442..72031945-chr14:72036768..72039737,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202066960	chr14:72031219-72031220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559874011	chr14:72031237-72031238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528566628	chr14:72031266-72031267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546736262	chr14:72031300-72031301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571637832	chr14:72031350-72031351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187148686	chr14:72031351-72031352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139904424	chr14:72031449-72031450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189741749	chr14:72031453-72031454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536907965	chr14:72031455-72031456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117440562	chr14:72031466-72031467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180679441	chr14:72031546-72031547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185553194	chr14:72031557-72031558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9323561	chr14:72031563-72031564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs141096525	chr14:72031569-72031570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562312564	chr14:72031587-72031588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148595641	chr14:72031631-72031632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577377487	chr14:72031642-72031643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541673569	chr14:72031695-72031696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145655079	chr14:72031697-72031698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538569584	chr14:72031701-72031702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551937226	chr14:72031714-72031715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558470023	chr14:72031752-72031753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560755514	chr14:72031762-72031763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147771868	chr14:72031764-72031765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532470732	chr14:72031773-72031774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550966832	chr14:72031778-72031779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189971258	chr14:72031824-72031825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539970346	chr14:72031911-72031912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139409556	chr14:72031960-72031961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548941459	chr14:72031982-72031983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182919707	chr14:72032149-72032150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534425295	chr14:72032205-72032206	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs558858630	chr14:72032215-72032216	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs540613676	chr14:72032224-72032225	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs117280443	chr14:72032226-72032227	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs114162173	chr14:72032327-72032328	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs12880674	chr14:72032351-72032352	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs188847678	chr14:72032379-72032380	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs532571274	chr14:72032465-72032466	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs117455350	chr14:72032486-72032487	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574139650	chr14:72032538-72032539	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs76343980	chr14:72032545-72032546	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs150929305	chr14:72032546-72032547	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs55660303	chr14:72032547-72032548	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs541412627	chr14:72032551-72032552	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs553684004	chr14:72032594-72032595	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs116958503	chr14:72032623-72032624	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs545999951	chr14:72032670-72032671	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs564091634	chr14:72032672-72032673	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs191543282	chr14:72032698-72032699	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72022600-72040200	Weak transcription	Osteobl	bone
2	chr14:72023400-72041000	Weak transcription	HSMM	muscle
3	chr14:72023800-72033200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr14:72024200-72032400	Weak transcription	Primary B cells from cord blood	blood
5	chr14:72024400-72033000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:72024400-72033200	Weak transcription	Thymus	Thymus
7	chr14:72024400-72052400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:72024800-72032000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:72025400-72033000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr14:72027600-72033000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr14:72027800-72032800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:72030400-72041000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:72030600-72033000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:72030600-72040000	Weak transcription	Dnd41	blood
15	chr14:72030600-72048800	Weak transcription	Fetal Kidney	kidney
16	chr14:72030800-72032200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr14:72030800-72032800	Weak transcription	Brain Anterior Caudate	brain
18	chr14:72030800-72033000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:72030800-72033600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:72030800-72040000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:72031000-72032200	Enhancers	GM12878-XiMat	blood
22	chr14:72031000-72052600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:72031600-72033400	Enhancers	Fetal Lung	lung
24	chr14:72032000-72032200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:72032000-72032200	Enhancers	Aorta	Aorta
26	chr14:72032000-72042800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:72032200-72032400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr14:72032200-72032400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:72032200-72032600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:72032200-72032800	Flanking Active TSS	GM12878-XiMat	blood
31	chr14:72032200-72033400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr14:72032200-72040000	Weak transcription	Aorta	Aorta
33	chr14:72032400-72032800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:72032400-72033000	Enhancers	Primary B cells from cord blood	blood
35	chr14:72032400-72033200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr14:72032400-72041800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:72032600-72034200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:72032800-72033000	Active TSS	Monocytes-CD14+_RO01746	blood
39	chr14:72032800-72033200	Active TSS	GM12878-XiMat	blood
40	chr14:72032800-72033400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr14:72032800-72033400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:72032800-72033400	Enhancers	Brain Anterior Caudate	brain
43	chr14:72032800-72033600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr14:72032800-72033800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr14:72032800-72034000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:72032800-72034000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr14:72033000-72033200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr14:72033000-72033400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr14:72033000-72033400	Active TSS	Primary B cells from cord blood	blood
50	chr14:72033000-72033400	Enhancers	Primary T cells from cord blood	blood

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