Variant report

Variant	nsv983811
Chromosome Location	chr14:31788724-31791043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31675817..31678526-chr14:31784194..31789174,6	MCF-7	breast:
2	chr14:31782463..31784081-chr14:31788737..31791376,2	K562	blood:
3	chr14:31784409..31786854-chr14:31787339..31791059,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092148	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577501537	chr14:31788735-31788736	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552064647	chr14:31788775-31788776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567055369	chr14:31788778-31788779	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs74043920	chr14:31788795-31788796	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73257374	chr14:31788815-31788816	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548166790	chr14:31788817-31788818	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563412056	chr14:31788820-31788821	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs8014570	chr14:31788830-31788831	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs377503802	chr14:31788879-31788880	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147157500	chr14:31788883-31788884	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571476577	chr14:31788902-31788903	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184960669	chr14:31788940-31788941	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546879083	chr14:31788965-31788966	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567976243	chr14:31788977-31788978	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191081147	chr14:31788987-31788988	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554541696	chr14:31788996-31788997	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534556250	chr14:31789007-31789008	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576158034	chr14:31789053-31789054	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs183662277	chr14:31789061-31789062	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558747792	chr14:31789080-31789081	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189053991	chr14:31789108-31789109	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577389246	chr14:31789109-31789110	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192108508	chr14:31789113-31789114	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553637280	chr14:31789201-31789202	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140515255	chr14:31789290-31789291	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144360926	chr14:31789293-31789294	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566774193	chr14:31789305-31789306	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578252611	chr14:31789307-31789308	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114964709	chr14:31789318-31789319	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567883644	chr14:31789361-31789362	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530487713	chr14:31789375-31789376	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147822936	chr14:31789386-31789387	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370482852	chr14:31789399-31789400	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528300345	chr14:31789439-31789440	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148913463	chr14:31789475-31789476	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568061340	chr14:31789487-31789488	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529130327	chr14:31789490-31789491	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182986284	chr14:31789499-31789500	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537525296	chr14:31789538-31789539	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569730217	chr14:31789613-31789614	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74043921	chr14:31789662-31789663	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs142672364	chr14:31789686-31789687	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570815130	chr14:31789693-31789694	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555860684	chr14:31789828-31789829	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553822317	chr14:31789837-31789838	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575235966	chr14:31789873-31789874	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542522224	chr14:31789890-31789891	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577183671	chr14:31789895-31789896	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34221070	chr14:31789896-31789897	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151043264	chr14:31789934-31789935	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31749400-31789000	Weak transcription	Psoas Muscle	Psoas
2	chr14:31761600-31794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr14:31761600-31794400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr14:31762400-31794800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
6	chr14:31767600-31790400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:31767800-31789400	Strong transcription	Adipose Nuclei	Adipose
8	chr14:31767800-31795200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:31768000-31798600	Weak transcription	Brain Germinal Matrix	brain
10	chr14:31768000-31805800	Weak transcription	NHEK	skin
11	chr14:31768200-31799200	Weak transcription	Colonic Mucosa	Colon
12	chr14:31768400-31798600	Weak transcription	Fetal Brain Female	brain
13	chr14:31769000-31793800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:31769800-31798600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:31770000-31789400	Weak transcription	Fetal Brain Male	brain
16	chr14:31770000-31798200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:31770000-31812600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:31770400-31802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:31771600-31798600	Weak transcription	A549	lung
21	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:31773400-31798200	Weak transcription	Right Ventricle	heart
23	chr14:31773600-31789000	Weak transcription	HSMMtube	muscle
24	chr14:31773600-31789400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:31774400-31792200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:31774400-31798600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:31774400-31800400	Weak transcription	Brain Angular Gyrus	brain
28	chr14:31774600-31811200	Weak transcription	HUVEC	blood vessel
29	chr14:31777000-31788800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:31777000-31795000	Weak transcription	GM12878-XiMat	blood
31	chr14:31777200-31795400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:31777200-31799400	Weak transcription	Primary T cells from cord blood	blood
33	chr14:31779200-31794400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:31779400-31790800	Strong transcription	Fetal Stomach	stomach
35	chr14:31780000-31790000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr14:31780000-31790600	Strong transcription	Osteobl	bone
37	chr14:31780400-31794400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:31780600-31795800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr14:31782200-31813000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr14:31782200-31814000	Weak transcription	Fetal Kidney	kidney
41	chr14:31782200-31875200	Weak transcription	Gastric	stomach
42	chr14:31782400-31789000	Weak transcription	Ovary	ovary
43	chr14:31782400-31789400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr14:31782400-31794400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr14:31782400-31798800	Weak transcription	Spleen	Spleen
46	chr14:31782400-31799200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:31782400-31799200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr14:31782400-31827000	Weak transcription	Aorta	Aorta
49	chr14:31782600-31789400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr14:31782600-31792400	Weak transcription	NH-A	brain

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