Variant report

Variant	nsv1064304
Chromosome Location	chr19:24380497-24596738
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: 13429 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:13429 , 50 per page) page: 1 2 3 4 5 6 7 ... 269

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541224786	chr19:24380511-24380512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs559254944	chr19:24380555-24380556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs117304264	chr19:24380562-24380563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs184096013	chr19:24380580-24380581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562976096	chr19:24380587-24380588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs139027169	chr19:24385409-24385410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs141596607	chr19:24385435-24385436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs149232933	chr19:24385458-24385459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs539591517	chr19:24385510-24385511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs377364017	chr19:24385514-24385515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs199899471	chr19:24385517-24385518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs576419261	chr19:24385564-24385565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs543820820	chr19:24385577-24385578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs188003861	chr19:24385578-24385579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs574820105	chr19:24385616-24385617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs542122135	chr19:24385617-24385618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs375095804	chr19:24385647-24385648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs560433455	chr19:24385666-24385667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs527470890	chr19:24385667-24385668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs192283423	chr19:24385672-24385673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs150417242	chr19:24385674-24385675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs374076230	chr19:24385693-24385694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs1813285	chr19:24385695-24385696	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371639537	chr19:24385698-24385699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs183456283	chr19:24385709-24385710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs74703624	chr19:24385710-24385711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs1118798	chr19:24385751-24385752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs149606338	chr19:24385757-24385758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs565975295	chr19:24385776-24385777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs539654915	chr19:24385794-24385795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs560754129	chr19:24385797-24385798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs558040424	chr19:24385804-24385805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs570148349	chr19:24385823-24385824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs71359978	chr19:24385828-24385829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs537133534	chr19:24385835-24385836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs1118799	chr19:24385852-24385853	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540011476	chr19:24385864-24385865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs80227085	chr19:24385865-24385866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542183043	chr19:24385891-24385892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs554115690	chr19:24385898-24385899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs75664680	chr19:24385947-24385948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113322203	chr19:24385962-24385963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs572320897	chr19:24385988-24385989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs546003716	chr19:24386025-24386026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs564093876	chr19:24386027-24386028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs531471835	chr19:24386036-24386037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs567146155	chr19:24386037-24386038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs144348034	chr19:24386045-24386046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs536174242	chr19:24386086-24386087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs563799361	chr19:24386107-24386108	ZNF genes & repeats	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	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

Chromatin state (count:346 , 50 per page) page: 1 2 3 4 5 6 7

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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