Variant report

Variant	nsv579081
Chromosome Location	chr19:24374419-24490299
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: 4975 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:4975 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533340473	chr19:24379601-24379602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs370885801	chr19:24379605-24379606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs546163834	chr19:24379614-24379615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs564360290	chr19:24379638-24379639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs56273303	chr19:24379640-24379641	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550002056	chr19:24379646-24379647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs146911805	chr19:24379658-24379659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs376133554	chr19:24379736-24379737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs188518178	chr19:24379737-24379738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs565587436	chr19:24379765-24379766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs193106640	chr19:24379772-24379773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs557291605	chr19:24379783-24379784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs370462910	chr19:24379789-24379790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs570018347	chr19:24379853-24379854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs537323377	chr19:24379863-24379864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs555557824	chr19:24379919-24379920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs371747036	chr19:24379936-24379937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs35647401	chr19:24379958-24379959	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541197868	chr19:24380005-24380006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs553427102	chr19:24380061-24380062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs185747336	chr19:24380110-24380111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs190660869	chr19:24380114-24380115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563625592	chr19:24380115-24380116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs576426217	chr19:24380128-24380129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs201538269	chr19:24380132-24380133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs376853549	chr19:24380138-24380139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192393961	chr19:24380161-24380162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs374625995	chr19:24380170-24380171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs73928599	chr19:24380222-24380223	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529061998	chr19:24380225-24380226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs547217491	chr19:24380226-24380227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs559408252	chr19:24380242-24380243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs183842516	chr19:24380247-24380248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs143495836	chr19:24380274-24380275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs569278788	chr19:24380278-24380279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs537384859	chr19:24380280-24380281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs549633936	chr19:24380303-24380304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs56206604	chr19:24380304-24380305	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535209415	chr19:24380316-24380317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs553248325	chr19:24380321-24380322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs188162312	chr19:24380322-24380323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs539105420	chr19:24380329-24380330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557406064	chr19:24380349-24380350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs114158901	chr19:24380377-24380378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs541654459	chr19:24380399-24380400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs181359862	chr19:24380424-24380425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113175767	chr19:24380434-24380435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs76600843	chr19:24380462-24380463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs541224786	chr19:24380511-24380512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs559254944	chr19:24380555-24380556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
Colorectal cancer	20459617	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
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24379600-24380600	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:24385400-24389600	ZNF genes & repeats	Liver	Liver
3	chr19:24387200-24389400	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:24387400-24389600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:24390200-24394800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:24390600-24391800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:24390800-24391200	ZNF genes & repeats	HUVEC	blood vessel
8	chr19:24390800-24393800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr19:24390800-24398400	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:24390800-24400400	ZNF genes & repeats	Liver	Liver
11	chr19:24393200-24394000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr19:24394200-24401200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:24397400-24403000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr19:24397600-24397800	Enhancers	Rectal Smooth Muscle	rectum
15	chr19:24397800-24400200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:24398000-24403000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr19:24400000-24400400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr19:24400000-24400400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
19	chr19:24400000-24400400	ZNF genes & repeats	Brain Substantia Nigra	brain
20	chr19:24400000-24400600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr19:24400000-24400600	ZNF genes & repeats	Dnd41	blood
22	chr19:24400000-24405000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:24400000-24410400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr19:24400200-24400400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
25	chr19:24400200-24400400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:24400200-24400400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:24400200-24400400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
28	chr19:24400200-24400400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:24400200-24400400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
30	chr19:24400200-24400400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
31	chr19:24400200-24400400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr19:24400200-24400400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
33	chr19:24400200-24400400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
34	chr19:24400200-24400400	ZNF genes & repeats	GM12878-XiMat	blood
35	chr19:24400200-24400400	ZNF genes & repeats	Hela-S3	cervix
36	chr19:24400200-24400400	ZNF genes & repeats	HSMM	muscle
37	chr19:24400200-24400400	ZNF genes & repeats	HSMMtube	muscle
38	chr19:24400200-24400400	ZNF genes & repeats	HUVEC	blood vessel
39	chr19:24400200-24400400	ZNF genes & repeats	NH-A	brain
40	chr19:24400200-24400400	ZNF genes & repeats	NHDF-Ad	bronchial
41	chr19:24400200-24400400	ZNF genes & repeats	NHEK	skin
42	chr19:24400200-24400400	ZNF genes & repeats	NHLF	lung
43	chr19:24400200-24400400	ZNF genes & repeats	Osteobl	bone
44	chr19:24401600-24403400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr19:24403400-24412800	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr19:24403400-24415200	ZNF genes & repeats	Liver	Liver
47	chr19:24408400-24408800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
48	chr19:24408600-24414600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr19:24409200-24410200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr19:24409400-24410200	Active TSS	Right Atrium	heart

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