Variant report

Variant	esv3339960
Chromosome Location	chr19:51562340-51563488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:51553750..51555731-chr19:51560630..51563131,3	MCF-7	breast:
2	chr19:51550901..51553309-chr19:51561288..51563961,2	K562	blood:
3	chr19:51559490..51563133-chr19:51565418..51568164,4	MCF-7	breast:
4	chr19:51562646..51565535-chr19:51565719..51568759,3	K562	blood:

Variant related genes	Relation type
ENSG00000167759	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184818705	chr19:51562395-51562396	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556100550	chr19:51562405-51562406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189236488	chr19:51562413-51562414	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538972235	chr19:51562462-51562463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541282818	chr19:51562492-51562493	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181603869	chr19:51562493-51562494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376209305	chr19:51562495-51562496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184213636	chr19:51562507-51562508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189872047	chr19:51562536-51562537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563432727	chr19:51562538-51562539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181083636	chr19:51562549-51562550	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548917872	chr19:51562551-51562552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147604307	chr19:51562683-51562684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542985558	chr19:51562698-51562699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529150387	chr19:51562780-51562781	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547357631	chr19:51562814-51562815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186514523	chr19:51562853-51562854	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539251495	chr19:51562858-51562859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557924115	chr19:51562862-51562863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569724856	chr19:51562868-51562869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142451985	chr19:51562879-51562880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190928929	chr19:51562883-51562884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs180793415	chr19:51562894-51562895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541739303	chr19:51562921-51562922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543648000	chr19:51562934-51562935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs553388082	chr19:51563051-51563052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144336791	chr19:51563084-51563085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs578154421	chr19:51563117-51563118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs148778381	chr19:51563119-51563120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs142449744	chr19:51563124-51563125	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374937829	chr19:51563134-51563135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545156901	chr19:51563139-51563140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541619008	chr19:51563143-51563144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147268256	chr19:51563162-51563163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs199961227	chr19:51563163-51563164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs151317733	chr19:51563174-51563175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139772701	chr19:51563180-51563181	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs530885281	chr19:51563184-51563185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201907629	chr19:51563185-51563186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs35833234	chr19:51563188-51563189	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369313164	chr19:51563191-51563192	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372484116	chr19:51563222-51563223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538118845	chr19:51563227-51563228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200562604	chr19:51563229-51563230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375625856	chr19:51563231-51563232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs199569172	chr19:51563236-51563237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs146548891	chr19:51563241-51563242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369228780	chr19:51563252-51563253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs373303491	chr19:51563253-51563254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs112121032	chr19:51563259-51563260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51555800-51567800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:51559600-51562400	Strong transcription	Esophagus	oesophagus
3	chr19:51559800-51567800	Weak transcription	HMEC	breast
4	chr19:51562400-51566800	Weak transcription	Esophagus	oesophagus

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