Variant report

Variant	nsv578973
Chromosome Location	chr19:22264183-22286741
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	chr19:22236195..22238676-chr19:22281763..22284450,2	K562	blood:

Extended variants
information (count: 590 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73019868	chr19:22264208-22264209	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73019869	chr19:22264215-22264216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150822714	chr19:22264232-22264233	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143385332	chr19:22264278-22264279	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371455680	chr19:22264397-22264398	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546940390	chr19:22264402-22264403	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375339689	chr19:22264456-22264457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571562415	chr19:22264532-22264533	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538737372	chr19:22264534-22264535	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539274769	chr19:22264539-22264540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151310383	chr19:22264566-22264567	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7258192	chr19:22264658-22264659	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191540783	chr19:22264679-22264680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13346821	chr19:22264712-22264713	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573370743	chr19:22264738-22264739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78368178	chr19:22264753-22264754	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113726193	chr19:22264786-22264787	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532192368	chr19:22264803-22264804	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184379199	chr19:22264886-22264887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35869969	chr19:22264888-22264889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs66500258	chr19:22264889-22264890	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113181187	chr19:22264890-22264891	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563564878	chr19:22264891-22264892	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575644785	chr19:22264920-22264921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542816642	chr19:22265038-22265039	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144127526	chr19:22265076-22265077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561082532	chr19:22265080-22265081	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565974512	chr19:22265142-22265143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546779890	chr19:22265170-22265171	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28424035	chr19:22265186-22265187	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528239918	chr19:22265224-22265225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565423385	chr19:22265258-22265259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193153679	chr19:22265270-22265271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150429451	chr19:22265294-22265295	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569183820	chr19:22265304-22265305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76624361	chr19:22265310-22265311	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548343643	chr19:22265435-22265436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554416858	chr19:22265519-22265520	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138274676	chr19:22265524-22265525	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552790729	chr19:22265544-22265545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373099725	chr19:22265586-22265587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34362154	chr19:22265587-22265588	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185722775	chr19:22265603-22265604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569637132	chr19:22265610-22265611	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577708635	chr19:22265685-22265686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567945569	chr19:22265717-22265718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190567192	chr19:22265813-22265814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376322779	chr19:22265816-22265817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180973706	chr19:22265834-22265835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369225920	chr19:22265849-22265850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22235800-22270400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr19:22253200-22272400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:22258800-22265200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:22260000-22264400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:22261000-22264200	Weak transcription	Fetal Intestine Large	intestine
6	chr19:22261800-22266200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:22263200-22267600	Weak transcription	Ovary	ovary
8	chr19:22263400-22264400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:22263400-22264400	Weak transcription	Pancreas	Pancrea
10	chr19:22263400-22265000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr19:22263400-22265200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:22263400-22266800	Weak transcription	Primary B cells from cord blood	blood
13	chr19:22264200-22265000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr19:22264400-22266200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:22265000-22266000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr19:22265000-22266000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
17	chr19:22265000-22267800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:22265200-22265400	ZNF genes & repeats	Pancreas	Pancrea
19	chr19:22265200-22266000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr19:22265200-22266200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:22265600-22266000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr19:22266200-22270800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:22267600-22267800	ZNF genes & repeats	Ovary	ovary
24	chr19:22268000-22268200	ZNF genes & repeats	Pancreas	Pancrea
25	chr19:22268200-22271200	Weak transcription	Left Ventricle	heart
26	chr19:22268200-22271400	Weak transcription	Pancreas	Pancrea
27	chr19:22268800-22272600	ZNF genes & repeats	Liver	Liver
28	chr19:22269400-22271800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr19:22269400-22272600	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr19:22270000-22272000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:22270200-22271600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
32	chr19:22270200-22272200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:22270200-22272400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr19:22270200-22273000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
35	chr19:22270400-22271600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
36	chr19:22270400-22272200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
37	chr19:22270400-22272600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
38	chr19:22270600-22271600	Weak transcription	Placenta	Placenta
39	chr19:22270600-22272000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:22270800-22272000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr19:22270800-22272200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:22270800-22272600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr19:22270800-22272600	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr19:22271000-22271400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:22271000-22271800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr19:22271000-22272000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
47	chr19:22271000-22272600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
48	chr19:22271200-22271600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
49	chr19:22271200-22271800	ZNF genes & repeats	Ovary	ovary
50	chr19:22271200-22272000	ZNF genes & repeats	Left Ventricle	heart

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