Variant report

Variant	nsv1063583
Chromosome Location	chr19:24419363-24596738
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-chr19:24456855..24458356,4	K562	blood:
2	chr1:121483249..121485033-chr19:24456836..24458356,4	K562	blood:

Extended variants
information (count: 11602 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:11602 , 50 per page) page: 1 2 3 4 5 6 7 ... 233

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534393938	chr19:24419364-24419365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558833542	chr19:24419367-24419368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181163998	chr19:24419371-24419372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116969071	chr19:24419378-24419379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200911873	chr19:24419398-24419399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562886431	chr19:24419418-24419419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574860997	chr19:24419424-24419425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531643061	chr19:24419435-24419436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551454827	chr19:24419439-24419440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186225381	chr19:24419455-24419456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528317712	chr19:24419463-24419464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190598464	chr19:24419483-24419484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564887989	chr19:24419492-24419493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532247653	chr19:24419502-24419503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550229628	chr19:24419506-24419507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150684310	chr19:24419509-24419510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374398095	chr19:24419524-24419525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529625562	chr19:24419549-24419550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548510132	chr19:24419579-24419580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12151120	chr19:24419583-24419584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567411500	chr19:24419587-24419588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149859451	chr19:24419590-24419591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559116734	chr19:24419596-24419597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144436839	chr19:24419598-24419599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4275966	chr19:24419600-24419601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs74777011	chr19:24419601-24419602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182077235	chr19:24419602-24419603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542237652	chr19:24419607-24419608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187404642	chr19:24419621-24419622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146456157	chr19:24419640-24419641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55893876	chr19:24419661-24419662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191816553	chr19:24419662-24419663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117577284	chr19:24419668-24419669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558664767	chr19:24419676-24419677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572194132	chr19:24419692-24419693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543936154	chr19:24419726-24419727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10426339	chr19:24419728-24419729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs113608972	chr19:24419729-24419730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142176562	chr19:24419733-24419734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182904450	chr19:24419794-24419795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566304611	chr19:24419820-24419821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376620527	chr19:24419840-24419841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554354424	chr19:24419857-24419858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528004569	chr19:24419868-24419869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10426547	chr19:24419878-24419879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs571057105	chr19:24419880-24419881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10426562	chr19:24419892-24419893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556738302	chr19:24419899-24419900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568566970	chr19:24419937-24419938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535909595	chr19:24419944-24419945	Weak transcription	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:291 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24419200-24424200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:24420600-24422600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:24420800-24422600	ZNF genes & repeats	Liver	Liver
4	chr19:24422000-24422600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:24424600-24425200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr19:24435000-24440000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:24436000-24439600	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr19:24436600-24436800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr19:24440600-24444800	ZNF genes & repeats	Liver	Liver
10	chr19:24442400-24445000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr19:24443000-24446200	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr19:24444000-24444800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr19:24444800-24446400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:24445200-24445400	ZNF genes & repeats	Brain Substantia Nigra	brain
15	chr19:24445400-24445800	Active TSS	Brain Substantia Nigra	brain
16	chr19:24450200-24451400	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr19:24451400-24451600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr19:24455800-24462600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:24457000-24458600	ZNF genes & repeats	Liver	Liver
20	chr19:24457600-24458600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr19:24468000-24473400	ZNF genes & repeats	Liver	Liver
22	chr19:24468400-24496800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr19:24468600-24477400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr19:24469200-24504400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:24472000-24475000	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr19:24472800-24473200	Active TSS	Aorta	Aorta
27	chr19:24473200-24474200	Weak transcription	Aorta	Aorta
28	chr19:24474000-24474800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr19:24474200-24474400	ZNF genes & repeats	Brain Substantia Nigra	brain
30	chr19:24474200-24474400	ZNF genes & repeats	Dnd41	blood
31	chr19:24474200-24474400	ZNF genes & repeats	Osteobl	bone
32	chr19:24474200-24474600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
33	chr19:24474200-24474600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:24474200-24474800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr19:24474200-24474800	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr19:24474200-24474800	Active TSS	Aorta	Aorta
37	chr19:24474200-24474800	ZNF genes & repeats	NH-A	brain
38	chr19:24474200-24475000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr19:24474400-24474800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:24474600-24474800	ZNF genes & repeats	HepG2	liver
41	chr19:24474600-24474800	ZNF genes & repeats	HUVEC	blood vessel
42	chr19:24474600-24474800	ZNF genes & repeats	K562	blood
43	chr19:24475000-24475600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:24475600-24504400	ZNF genes & repeats	Liver	Liver
45	chr19:24478600-24484600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:24480000-24493400	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr19:24480800-24481400	Active TSS	Aorta	Aorta
48	chr19:24481600-24494000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr19:24484400-24485000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:24484800-24486000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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