Variant report

Variant	nsv579036
Chromosome Location	chr19:23465240-23466019
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	chr17:56735011..56736549-chr19:23464937..23466566,2	MCF-7	breast:
2	chr19:23456110..23458063-chr19:23465875..23467770,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213971	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28550952	chr19:23465240-23465241	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574192822	chr19:23465265-23465266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144023455	chr19:23465267-23465268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554302968	chr19:23465279-23465280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376497518	chr19:23465297-23465298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541639168	chr19:23465372-23465373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572653583	chr19:23465375-23465376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546448955	chr19:23465423-23465424	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74477272	chr19:23465653-23465654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74537457	chr19:23465655-23465656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564338955	chr19:23465658-23465659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576539779	chr19:23465698-23465699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543815438	chr19:23465727-23465728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562209574	chr19:23465737-23465738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561470584	chr19:23465761-23465762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529395328	chr19:23465973-23465974	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112142607	chr19:23466007-23466008	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188409250	chr19:23466017-23466018	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23457600-23470400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr19:23464200-23466000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr19:23464200-23467000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr19:23464400-23467000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr19:23464600-23466000	Enhancers	Primary T cells from cord blood	blood
6	chr19:23465000-23465400	Enhancers	HepG2	liver
7	chr19:23465200-23466000	Enhancers	Dnd41	blood
8	chr19:23465200-23466200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr19:23465200-23466600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:23465400-23465600	Flanking Active TSS	HepG2	liver
11	chr19:23465600-23465800	Enhancers	HepG2	liver
12	chr19:23465800-23466000	Flanking Active TSS	HepG2	liver
13	chr19:23466000-23466800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr19:23466000-23467000	Enhancers	HepG2	liver

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