Variant report

Variant	esv1813039
Chromosome Location	chr19:24402054-24582985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:121483249..121485033-chr19:24456836..24458356,4	K562	blood:
2	chr1:121483249..121485033-chr19:24456855..24458356,4	K562	blood:

Extended variants
information (count: 11317 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:11317 , 50 per page) page: 1 2 3 4 5 6 7 ... 227

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35802184	chr19:24402054-24402055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs193279692	chr19:24402058-24402059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs111719437	chr19:24402063-24402064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112197697	chr19:24402081-24402082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562580151	chr19:24402111-24402112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs567858402	chr19:24402142-24402143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs535174388	chr19:24402214-24402215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs199558855	chr19:24402216-24402217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs368369148	chr19:24402224-24402225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs4986351	chr19:24402242-24402243	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528914669	chr19:24402251-24402252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs539030770	chr19:24402260-24402261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558446294	chr19:24402271-24402272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs576639255	chr19:24402274-24402275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs73013473	chr19:24402276-24402277	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562256534	chr19:24402284-24402285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs533618569	chr19:24402327-24402328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547309144	chr19:24402339-24402340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200011434	chr19:24402381-24402382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs184841895	chr19:24402387-24402388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs4986274	chr19:24402403-24402404	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs80203499	chr19:24402408-24402409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112481141	chr19:24402476-24402477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs533376588	chr19:24402481-24402482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs551465270	chr19:24402484-24402485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs564442402	chr19:24402489-24402490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs531499465	chr19:24402490-24402491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs149396058	chr19:24402492-24402493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs567917735	chr19:24402496-24402497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs535233516	chr19:24402529-24402530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs547106288	chr19:24402551-24402552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs143751938	chr19:24402565-24402566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs539446564	chr19:24402567-24402568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs148148850	chr19:24402601-24402602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs557452154	chr19:24402621-24402622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs186940285	chr19:24402639-24402640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs537339297	chr19:24402643-24402644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs569300534	chr19:24402655-24402656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs556047011	chr19:24402706-24402707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs574292764	chr19:24402712-24402713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs537962957	chr19:24402727-24402728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs541602130	chr19:24402737-24402738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs374376230	chr19:24402749-24402750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs557890830	chr19:24402766-24402767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs553534576	chr19:24402775-24402776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs578023668	chr19:24402785-24402786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs545429879	chr19:24402796-24402797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs191404434	chr19:24402829-24402830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs530887238	chr19:24402854-24402855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs183621760	chr19:24402861-24402862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

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	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24397400-24403000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:24398000-24403000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr19:24400000-24405000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:24400000-24410400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr19:24401600-24403400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr19:24403400-24412800	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr19:24403400-24415200	ZNF genes & repeats	Liver	Liver
8	chr19:24408400-24408800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr19:24408600-24414600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:24409200-24410200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:24409400-24410200	Active TSS	Right Atrium	heart
12	chr19:24409800-24410800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr19:24410200-24412200	Weak transcription	Right Atrium	heart
14	chr19:24412200-24412600	Active TSS	Right Atrium	heart
15	chr19:24412200-24412800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr19:24413400-24414800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr19:24419200-24424200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:24420600-24422600	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr19:24420800-24422600	ZNF genes & repeats	Liver	Liver
20	chr19:24422000-24422600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr19:24424600-24425200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr19:24435000-24440000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:24436000-24439600	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr19:24436600-24436800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr19:24440600-24444800	ZNF genes & repeats	Liver	Liver
26	chr19:24442400-24445000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr19:24443000-24446200	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr19:24444000-24444800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr19:24444800-24446400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:24445200-24445400	ZNF genes & repeats	Brain Substantia Nigra	brain
31	chr19:24445400-24445800	Active TSS	Brain Substantia Nigra	brain
32	chr19:24450200-24451400	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr19:24451400-24451600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
34	chr19:24455800-24462600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:24457000-24458600	ZNF genes & repeats	Liver	Liver
36	chr19:24457600-24458600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr19:24468000-24473400	ZNF genes & repeats	Liver	Liver
38	chr19:24468400-24496800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr19:24468600-24477400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr19:24469200-24504400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:24472000-24475000	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr19:24472800-24473200	Active TSS	Aorta	Aorta
43	chr19:24473200-24474200	Weak transcription	Aorta	Aorta
44	chr19:24474000-24474800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr19:24474200-24474400	ZNF genes & repeats	Brain Substantia Nigra	brain
46	chr19:24474200-24474400	ZNF genes & repeats	Dnd41	blood
47	chr19:24474200-24474400	ZNF genes & repeats	Osteobl	bone
48	chr19:24474200-24474600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
49	chr19:24474200-24474600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:24474200-24474800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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