Variant report

Variant	nsv9723
Chromosome Location	chr19:40221468-40227714
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	chr19:40219606..40222689-chr19:40225665..40231232,5	K562	blood:
2	chr19:40218825..40222024-chr19:40225949..40228732,3	K562	blood:

Variant related genes	Relation type
ENSG00000105205	chromatin interactions

Extended variants
information (count: 292 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:292 , 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	rs565689426	chr19:40221496-40221497	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549767808	chr19:40221510-40221511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368089855	chr19:40221535-40221536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10407799	chr19:40221539-40221540	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4802054	chr19:40221564-40221565	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576233041	chr19:40221565-40221566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537140598	chr19:40221591-40221592	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558726780	chr19:40221594-40221595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576918038	chr19:40221595-40221596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs77205066	chr19:40221613-40221614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534649680	chr19:40221632-40221633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs440191	chr19:40221643-40221644	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs115950820	chr19:40221661-40221662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542643436	chr19:40221667-40221668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560945838	chr19:40221679-40221680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531728735	chr19:40221682-40221683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs78605039	chr19:40221685-40221686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs377714505	chr19:40221686-40221687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs73559714	chr19:40221695-40221696	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs143235566	chr19:40221699-40221700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76825422	chr19:40221785-40221786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs192451566	chr19:40221802-40221803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373097006	chr19:40221978-40221979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs138827329	chr19:40221983-40221984	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs555582913	chr19:40221985-40221986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200513630	chr19:40222011-40222012	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377099281	chr19:40222018-40222019	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141833516	chr19:40222041-40222042	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs117361485	chr19:40222060-40222061	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368189111	chr19:40222064-40222065	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371744325	chr19:40222073-40222074	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546089464	chr19:40222106-40222107	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183442881	chr19:40222116-40222117	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs150767631	chr19:40222131-40222132	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558340888	chr19:40222139-40222140	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200091892	chr19:40222156-40222157	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576981411	chr19:40222161-40222162	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145576954	chr19:40222212-40222213	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113091367	chr19:40222290-40222291	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs141739943	chr19:40222300-40222301	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs58100423	chr19:40222318-40222319	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187294348	chr19:40222346-40222347	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs437780	chr19:40222379-40222380	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs113791020	chr19:40222395-40222396	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs2074926	chr19:40222408-40222409	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs565202548	chr19:40222472-40222473	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532624191	chr19:40222482-40222483	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs541293323	chr19:40222519-40222520	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs34895925	chr19:40222526-40222527	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs367788	chr19:40222533-40222534	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	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
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40219200-40221800	Weak transcription	GM12878-XiMat	blood
2	chr19:40219200-40225200	Weak transcription	Placenta	Placenta
3	chr19:40221800-40222200	Enhancers	GM12878-XiMat	blood
4	chr19:40222000-40222600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr19:40222200-40225600	Weak transcription	GM12878-XiMat	blood
6	chr19:40224600-40226600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr19:40225200-40226000	Enhancers	Placenta	Placenta
8	chr19:40225600-40229400	Enhancers	GM12878-XiMat	blood
9	chr19:40226000-40228600	Weak transcription	Placenta	Placenta
10	chr19:40226000-40228800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr19:40226200-40229200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr19:40226400-40227000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:40226400-40228200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr19:40226600-40227800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr19:40226800-40228800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr19:40227000-40227400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:40227400-40228200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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