Variant report

Variant	esv1841451
Chromosome Location	chr19:23216667-23223046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1645774	chr19:23216667-23216668	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551572019	chr19:23216674-23216675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151227809	chr19:23216736-23216737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12710213	chr19:23216741-23216742	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555690078	chr19:23216788-23216789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567602475	chr19:23216895-23216896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10410470	chr19:23216991-23216992	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553540661	chr19:23216992-23216993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578156813	chr19:23216996-23216997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545993358	chr19:23217019-23217020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557672275	chr19:23217024-23217025	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1820182	chr19:23217097-23217098	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182568190	chr19:23217103-23217104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4021946	chr19:23217112-23217113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386388754	chr19:23217113-23217114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397726269	chr19:23217116-23217117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561720381	chr19:23217190-23217191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528885773	chr19:23217199-23217200	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144115206	chr19:23217272-23217273	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188280133	chr19:23217273-23217274	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570596364	chr19:23217295-23217296	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532883479	chr19:23217359-23217360	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146483380	chr19:23217368-23217369	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140951347	chr19:23217388-23217389	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539618916	chr19:23217412-23217413	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs58176115	chr19:23217425-23217426	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs397774375	chr19:23217435-23217436	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531223440	chr19:23217468-23217469	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549442751	chr19:23217469-23217470	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567638625	chr19:23217470-23217471	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534983786	chr19:23217507-23217508	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553428074	chr19:23217530-23217531	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571723455	chr19:23217566-23217567	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374822593	chr19:23217630-23217631	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539145921	chr19:23217648-23217649	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557924966	chr19:23217651-23217652	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76038496	chr19:23217652-23217653	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543679607	chr19:23217668-23217669	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373415222	chr19:23217669-23217670	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192562328	chr19:23217704-23217705	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573613645	chr19:23217719-23217720	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117892981	chr19:23217752-23217753	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543234683	chr19:23217850-23217851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577275178	chr19:23217917-23217918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544814474	chr19:23217931-23217932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs55633819	chr19:23217962-23217963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531049145	chr19:23217966-23217967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549570935	chr19:23218064-23218065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183737332	chr19:23218081-23218082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528799918	chr19:23218180-23218181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23215800-23217000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:23216400-23217200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:23217000-23217200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:23217000-23217800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr19:23217200-23217800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:23217200-23218000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:23217800-23218800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:23218000-23218800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:23218800-23219000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:23218800-23219200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:23219000-23222000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:23219200-23220200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:23220200-23220400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:23220200-23221400	Enhancers	Fetal Heart	heart
15	chr19:23220400-23220800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:23220800-23221200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:23222000-23222400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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