Variant report

Variant	esv3509870
Chromosome Location	chr19:21513756-21514236
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	chr19:21511256..21513599-chr19:21513725..21515814,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182141	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2968050	chr19:21513761-21513762	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs560109907	chr19:21513789-21513790	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527349824	chr19:21513793-21513794	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545880048	chr19:21513844-21513845	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs59353291	chr19:21513873-21513874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181457647	chr19:21513881-21513882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531519330	chr19:21513886-21513887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs28771683	chr19:21513887-21513888	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs28824587	chr19:21513899-21513900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs62107537	chr19:21513904-21513905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs28552484	chr19:21513915-21513916	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs71333821	chr19:21513925-21513926	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs71333822	chr19:21513928-21513929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs71333823	chr19:21513930-21513931	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs71333824	chr19:21513935-21513936	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs28810709	chr19:21513937-21513938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs569848138	chr19:21513943-21513944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369864863	chr19:21513966-21513967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201772838	chr19:21513971-21513972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187927241	chr19:21513977-21513978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192604301	chr19:21513984-21513985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs537224646	chr19:21513991-21513992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555561884	chr19:21513992-21513993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573961274	chr19:21513993-21513994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs55941378	chr19:21514001-21514002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541714613	chr19:21514035-21514036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs553437063	chr19:21514038-21514039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs373594092	chr19:21514150-21514151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376584102	chr19:21514152-21514153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571999026	chr19:21514180-21514181	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144053636	chr19:21514198-21514199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564150138	chr19:21514206-21514207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:39)

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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21512400-21515000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:21513400-21513800	ZNF genes & repeats	Dnd41	blood
3	chr19:21513600-21513800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:21513600-21513800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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