Variant report

Variant	esv3340074
Chromosome Location	chr19:24054537-24057285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112242414	chr19:24054561-24054562	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs140602912	chr19:24054564-24054565	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs62114162	chr19:24054579-24054580	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549690984	chr19:24054604-24054605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62114184	chr19:24054612-24054613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535346621	chr19:24054625-24054626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs137864719	chr19:24054626-24054627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397957517	chr19:24054650-24054651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375534689	chr19:24054683-24054684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548044705	chr19:24054685-24054686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149458818	chr19:24054711-24054712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs251744	chr19:24054902-24054903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145841812	chr19:24054941-24054942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370788207	chr19:24054950-24054951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112896589	chr19:24054971-24054972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575224797	chr19:24054989-24054990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536347231	chr19:24054991-24054992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556564277	chr19:24055015-24055016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375564356	chr19:24055023-24055024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536203992	chr19:24055063-24055064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10518280	chr19:24055081-24055082	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs142769669	chr19:24055100-24055101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75695352	chr19:24055104-24055105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs113678732	chr19:24055175-24055176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7257172	chr19:24055211-24055212	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546367353	chr19:24055224-24055225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7257184	chr19:24055240-24055241	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11668713	chr19:24055241-24055242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147398977	chr19:24055245-24055246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530633334	chr19:24055261-24055262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34066546	chr19:24055273-24055274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs17000523	chr19:24055276-24055277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs528761989	chr19:24055290-24055291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547298099	chr19:24055314-24055315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574197704	chr19:24055357-24055358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532780892	chr19:24055385-24055386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369945709	chr19:24055388-24055389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568961817	chr19:24055423-24055424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191461263	chr19:24055470-24055471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554509237	chr19:24055494-24055495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541646015	chr19:24055513-24055514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116518861	chr19:24055534-24055535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148467455	chr19:24055543-24055544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12971479	chr19:24055580-24055581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188349032	chr19:24055588-24055589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557198003	chr19:24055596-24055597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12971291	chr19:24055618-24055619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12971510	chr19:24055621-24055622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12973274	chr19:24055638-24055639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs386808164	chr19:24055642-24055643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
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
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	18194544	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24048000-24054600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:24048200-24059600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:24052600-24055000	Weak transcription	Ovary	ovary
4	chr19:24053400-24054600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:24054200-24057200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr19:24054600-24060000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:24054800-24056200	Enhancers	Liver	Liver

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