Variant report

Variant	esv3318119
Chromosome Location	chr19:40257425-40257951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40245612..40247298-chr19:40255835..40257856,2	MCF-7	breast:
2	chr19:40256350..40257493-chr19:40334257..40335289,4	MCF-7	breast:
3	chr19:40163659..40164641-chr19:40256992..40257878,2	MCF-7	breast:
4	chr19:40255527..40257517-chr19:40266720..40268234,2	K562	blood:
5	chr19:40041769..40042752-chr19:40257039..40257543,2	K562	blood:
6	chr19:40255355..40257924-chr19:40332588..40334816,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213921	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571989342	chr19:40257436-40257437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146778885	chr19:40257512-40257513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368362949	chr19:40257539-40257540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11300358	chr19:40257547-40257548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576047776	chr19:40257553-40257554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10611625	chr19:40257556-40257557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62981663	chr19:40257561-40257562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375907695	chr19:40257562-40257563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367818670	chr19:40257563-40257564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371755873	chr19:40257564-40257565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377301426	chr19:40257565-40257566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374020906	chr19:40257609-40257610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564711246	chr19:40257667-40257668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532152362	chr19:40257769-40257770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540960813	chr19:40257773-40257774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112550406	chr19:40257817-40257818	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs369901544	chr19:40257849-40257850	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs374152800	chr19:40257850-40257851	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs549311363	chr19:40257860-40257861	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs12977763	chr19:40257874-40257875	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs564473682	chr19:40257888-40257889	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs567662853	chr19:40257897-40257898	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs12977956	chr19:40257900-40257901	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs76568792	chr19:40257950-40257951	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40254000-40259400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:40255600-40259000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr19:40256800-40257600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:40257200-40259000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr19:40257400-40258800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:40257400-40259000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr19:40257400-40259000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr19:40257400-40259000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr19:40257400-40259200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:40257400-40259200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:40257400-40259200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:40257600-40258000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:40257800-40258000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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