Variant report

Variant	nsv828560
Chromosome Location	chr19:43859394-43864333
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	chr19:43857729..43859549-chr19:43967499..43969532,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124466	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578250430	chr19:43859414-43859415	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540898196	chr19:43859415-43859416	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554420017	chr19:43859422-43859423	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574315501	chr19:43859423-43859424	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182049506	chr19:43859426-43859427	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561870680	chr19:43859457-43859458	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1962260	chr19:43859549-43859550	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544205949	chr19:43859571-43859572	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145873476	chr19:43859584-43859585	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533079906	chr19:43859591-43859592	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546455700	chr19:43859619-43859620	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138701340	chr19:43859627-43859628	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116634255	chr19:43859634-43859635	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187659745	chr19:43859663-43859664	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142707564	chr19:43859722-43859723	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189077526	chr19:43859745-43859746	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558151704	chr19:43859770-43859771	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181035673	chr19:43859775-43859776	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571631295	chr19:43859784-43859785	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375328813	chr19:43859785-43859786	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369543421	chr19:43859788-43859789	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62113736	chr19:43859807-43859808	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138962093	chr19:43859812-43859813	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149427590	chr19:43859817-43859818	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144809107	chr19:43859844-43859845	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370248027	chr19:43859848-43859849	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556441386	chr19:43859862-43859863	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374615051	chr19:43859951-43859952	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367981894	chr19:43859955-43859956	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185339514	chr19:43859962-43859963	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190200494	chr19:43859964-43859965	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374285742	chr19:43859987-43859988	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563207389	chr19:43859991-43859992	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560964645	chr19:43859997-43859998	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112666621	chr19:43860001-43860002	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73039860	chr19:43860030-43860031	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2286403	chr19:43860048-43860049	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71350665	chr19:43860053-43860054	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182730265	chr19:43860074-43860075	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71350666	chr19:43860076-43860077	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529134765	chr19:43860127-43860128	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111926611	chr19:43860138-43860139	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549163751	chr19:43860141-43860142	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562514247	chr19:43860187-43860188	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71337594	chr19:43860192-43860193	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551935907	chr19:43860204-43860205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571745049	chr19:43860207-43860208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368350368	chr19:43860249-43860250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199668750	chr19:43860251-43860252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200662237	chr19:43860255-43860256	Weak transcription	n/a	n/a	Overlapped CNVs	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
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
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21509527	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21240255	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43855800-43864200	Weak transcription	Right Atrium	heart
2	chr19:43858800-43859400	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr19:43859000-43859400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr19:43859000-43860000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr19:43859000-43864200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:43859400-43859600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr19:43859400-43860200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr19:43859600-43859800	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr19:43859800-43860000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr19:43859800-43860200	Enhancers	HMEC	breast
11	chr19:43860000-43860200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr19:43860000-43864200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr19:43860000-43864200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr19:43860200-43864000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr19:43862800-43873200	Weak transcription	Gastric	stomach
16	chr19:43863000-43864200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:43864000-43864600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr19:43864000-43864600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
19	chr19:43864200-43864600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
20	chr19:43864200-43864600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr19:43864200-43864600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr19:43864200-43864600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:43864200-43864600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:43864200-43864600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:43864200-43864600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
26	chr19:43864200-43864600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr19:43864200-43864600	ZNF genes & repeats	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links