Variant report

Variant	esv3373904
Chromosome Location	chr19:51405340-51409338
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:51297529..51298368-chr19:51409144..51409704,2	K562	blood:
2	chr19:51405117..51408111-chr19:51411398..51414932,3	MCF-7	breast:
3	chr19:51398615..51401717-chr19:51409067..51411982,3	K562	blood:

Variant related genes	Relation type
ENSG00000167749	chromatin interactions
ENSG00000197588	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554003698	chr19:51405360-51405361	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs572309119	chr19:51405396-51405397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546028059	chr19:51405402-51405403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191624202	chr19:51405412-51405413	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2739496	chr19:51405475-51405476	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576108828	chr19:51405486-51405487	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543016504	chr19:51405507-51405508	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561757219	chr19:51405538-51405539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146137090	chr19:51405552-51405553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529558329	chr19:51405568-51405569	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs71185774	chr19:51405571-51405572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547725849	chr19:51405579-51405580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559630291	chr19:51405638-51405639	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs806021	chr19:51405673-51405674	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551582148	chr19:51405704-51405705	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs806020	chr19:51405808-51405809	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73932678	chr19:51405814-51405815	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549089756	chr19:51405822-51405823	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567696277	chr19:51405829-51405830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535374961	chr19:51405832-51405833	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554066345	chr19:51405902-51405903	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572373002	chr19:51405914-51405915	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539614509	chr19:51405922-51405923	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs806019	chr19:51405982-51405983	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11881354	chr19:51406129-51406130	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs146137475	chr19:51406152-51406153	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11881373	chr19:51406153-51406154	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12977636	chr19:51406178-51406179	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7507565	chr19:51406201-51406202	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186644524	chr19:51406213-51406214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372531402	chr19:51406221-51406222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs573540966	chr19:51406235-51406236	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs192534387	chr19:51406241-51406242	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184386975	chr19:51406286-51406287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559591968	chr19:51406293-51406294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs149757666	chr19:51406323-51406324	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs533463548	chr19:51406336-51406337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369877147	chr19:51406366-51406367	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190500893	chr19:51406388-51406389	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs112221599	chr19:51406393-51406394	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs118009375	chr19:51406426-51406427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs118100566	chr19:51406432-51406433	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549494904	chr19:51406492-51406493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567662507	chr19:51406506-51406507	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs1090649	chr19:51406531-51406532	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs140104759	chr19:51406605-51406606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1090648	chr19:51406613-51406614	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2569531	chr19:51406618-51406619	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs372736661	chr19:51406662-51406663	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs1090647	chr19:51406691-51406692	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51407200-51408000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:51407400-51407800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:51408600-51409400	Weak transcription	GM12878-XiMat	blood

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