Variant report

Variant	nsv10563
Chromosome Location	chr4:131181649-131272077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:131153992..131157908-chr4:131192612..131195351,3	K562	blood:
2	chr4:131242207..131244895-chr4:131247047..131249107,2	K562	blood:
3	chr19:7708632..7709166-chr4:131266218..131266718,2	NB4	blood:
4	chr4:131242207..131244895-chr4:131247047..131249107,2	K562	blood:

Extended variants
information (count: 1062 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1062 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28802407	chr4:131187819-131187820	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574607174	chr4:131187835-131187836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs376880967	chr4:131187860-131187861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs541791951	chr4:131187903-131187904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs560262994	chr4:131187909-131187910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs112573457	chr4:131187913-131187914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs552175457	chr4:131187981-131187982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs146143396	chr4:131187991-131187992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs548088484	chr4:131188001-131188002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs78743837	chr4:131188009-131188010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs564450350	chr4:131188011-131188012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs531361348	chr4:131188055-131188056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs550014072	chr4:131188078-131188079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs188615091	chr4:131188127-131188128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs35835889	chr4:131188171-131188172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs535568373	chr4:131188178-131188179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs543440045	chr4:131188188-131188189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs79733820	chr4:131188198-131188199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs565525621	chr4:131188199-131188200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs539461379	chr4:131188224-131188225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs193146924	chr4:131188294-131188295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs111272875	chr4:131188308-131188309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs577474430	chr4:131188383-131188384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs6839197	chr4:131188507-131188508	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs556359100	chr4:131188518-131188519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs529062672	chr4:131188537-131188538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs574719629	chr4:131188573-131188574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs61572961	chr4:131188592-131188593	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373430608	chr4:131191410-131191411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554288132	chr4:131191457-131191458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185006362	chr4:131191466-131191467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375077627	chr4:131191477-131191478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537495974	chr4:131191530-131191531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190258160	chr4:131191563-131191564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559957341	chr4:131191576-131191577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562214924	chr4:131191612-131191613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545742510	chr4:131191618-131191619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35908493	chr4:131191652-131191653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372567204	chr4:131191663-131191664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557843840	chr4:131191680-131191681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547595533	chr4:131191705-131191706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183256375	chr4:131191711-131191712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531169571	chr4:131191745-131191746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571120233	chr4:131191748-131191749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188385762	chr4:131191762-131191763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567654728	chr4:131191775-131191776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs193027430	chr4:131191795-131191796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546691799	chr4:131191800-131191801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79411834	chr4:131191845-131191846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533563600	chr4:131191847-131191848	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131187800-131188600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr4:131191400-131191800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:131191400-131192400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:131191400-131192600	Enhancers	Dnd41	blood
5	chr4:131197600-131198200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:131198200-131199200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:131199000-131199600	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr4:131199600-131200000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:131199800-131200000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:131208600-131209400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:131209400-131209800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:131209600-131210400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:131209800-131210000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:131210000-131210200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:131210000-131210600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:131210000-131210600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:131210200-131210400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:131210200-131210600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:131210400-131210800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:131210600-131215000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:131210600-131215200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:131215000-131215600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:131215000-131215800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:131215200-131215800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:131219800-131220000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:131220600-131220800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:131229400-131229600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:131229400-131230600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:131230000-131232000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:131232800-131233000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr4:131233000-131236200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:131234200-131234400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:131236000-131236400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:131236200-131236400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr4:131236200-131236800	Enhancers	HUVEC	blood vessel
36	chr4:131243800-131244200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:131247200-131247800	Enhancers	Liver	Liver
38	chr4:131247800-131248800	Weak transcription	Liver	Liver
39	chr4:131248400-131249200	Enhancers	Adipose Nuclei	Adipose
40	chr4:131248800-131249000	Enhancers	Liver	Liver
41	chr4:131254200-131255600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:131254200-131255800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr4:131254400-131255400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:131254600-131255400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:131254600-131255400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr4:131254600-131255400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr4:131254600-131255400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:131255400-131255800	Enhancers	H9 Cell Line	embryonic stem cell
49	chr4:131255400-131256000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:131256000-131256400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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