Variant report

Variant	nsv978823
Chromosome Location	chr19:43081358-43094705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42965246..42967758-chr19:43079335..43081443,2	MCF-7	breast:
2	chr19:43086009..43087735-chr19:43091658..43093226,2	MCF-7	breast:
3	chr19:43092830..43095599-chr19:43097248..43100120,2	K562	blood:
4	chr19:43086009..43087735-chr19:43091658..43093226,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124469	chromatin interactions

Extended variants
information (count: 479 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529222314	chr19:43081450-43081451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12327570	chr19:43081490-43081491	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562590800	chr19:43081581-43081582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531684494	chr19:43081693-43081694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187860099	chr19:43081789-43081790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139579419	chr19:43081821-43081822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199840297	chr19:43081822-43081823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201061556	chr19:43081832-43081833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527900672	chr19:43081840-43081841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10421721	chr19:43081843-43081844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10422911	chr19:43081845-43081846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548033883	chr19:43081857-43081858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567845320	chr19:43081894-43081895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373162794	chr19:43081948-43081949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560892130	chr19:43081956-43081957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536978716	chr19:43081993-43081994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191301726	chr19:43081994-43081995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138567756	chr19:43082032-43082033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144090166	chr19:43082048-43082049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557912187	chr19:43082055-43082056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183495441	chr19:43082062-43082063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577880046	chr19:43082063-43082064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528081396	chr19:43082077-43082078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533734763	chr19:43082102-43082103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73932730	chr19:43082162-43082163	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573851851	chr19:43082186-43082187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377117978	chr19:43082207-43082208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542948883	chr19:43082308-43082309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77173261	chr19:43082313-43082314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565054871	chr19:43082354-43082355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13346831	chr19:43082401-43082402	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs565558380	chr19:43082417-43082418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs45542141	chr19:43082455-43082456	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs13346879	chr19:43082503-43082504	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs78922924	chr19:43082504-43082505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547652739	chr19:43082517-43082518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561573421	chr19:43082518-43082519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535422331	chr19:43082567-43082568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs45439592	chr19:43082635-43082636	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs13346903	chr19:43082642-43082643	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs568845638	chr19:43082647-43082648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148340399	chr19:43082649-43082650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532893329	chr19:43082684-43082685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551432827	chr19:43082722-43082723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373895697	chr19:43082732-43082733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12327716	chr19:43082754-43082755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189490091	chr19:43082761-43082762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377372533	chr19:43082790-43082791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74373683	chr19:43082801-43082802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557748729	chr19:43082832-43082833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43072400-43084200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr19:43078800-43081800	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:43078800-43082400	Enhancers	Primary B cells from cord blood	blood
4	chr19:43080200-43081800	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr19:43080400-43081600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr19:43080600-43081800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr19:43081000-43081400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:43081000-43081400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr19:43081000-43081400	Enhancers	Spleen	Spleen
10	chr19:43081000-43081800	Enhancers	Adipose Nuclei	Adipose
11	chr19:43081000-43081800	Enhancers	Colonic Mucosa	Colon
12	chr19:43081000-43081800	Enhancers	Fetal Intestine Large	intestine
13	chr19:43081200-43081600	Enhancers	Primary hematopoietic stem cells	blood
14	chr19:43081400-43082600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr19:43081400-43100600	Weak transcription	Spleen	Spleen
16	chr19:43081600-43081800	Enhancers	Small Intestine	intestine
17	chr19:43081600-43082200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:43082200-43082600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr19:43082600-43083600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr19:43083600-43083800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr19:43084200-43084800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
22	chr19:43084800-43085400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr19:43085400-43086200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr19:43086200-43088000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
25	chr19:43088000-43092200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr19:43088400-43088800	Bivalent Enhancer	Primary B cells from cord blood	blood
27	chr19:43088400-43089400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr19:43088800-43089400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr19:43090200-43091200	Bivalent Enhancer	Primary B cells from cord blood	blood
30	chr19:43092200-43094400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
31	chr19:43094200-43094400	Enhancers	Primary B cells from cord blood	blood
32	chr19:43094400-43095400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr19:43094400-43100200	Weak transcription	Primary B cells from cord blood	blood

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