Variant report

Variant	esv3529958
Chromosome Location	chr4:119124654-119131252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577075209	chr4:119124678-119124679	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs185254987	chr4:119124686-119124687	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs553354746	chr4:119124692-119124693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs559612638	chr4:119124697-119124698	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs140404889	chr4:119124708-119124709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs2892799	chr4:119124720-119124721	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs368508939	chr4:119124741-119124742	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536193524	chr4:119124793-119124794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs561930388	chr4:119124839-119124840	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs113475878	chr4:119124896-119124897	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs191374416	chr4:119124950-119124951	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs550950938	chr4:119125013-119125014	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372152138	chr4:119125017-119125018	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs35054481	chr4:119125054-119125055	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs182798031	chr4:119125069-119125070	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs566758220	chr4:119125102-119125103	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534410643	chr4:119125109-119125110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs371272753	chr4:119125110-119125111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs199979879	chr4:119125114-119125115	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs34302716	chr4:119125120-119125121	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537061841	chr4:119125208-119125209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs186557261	chr4:119125237-119125238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs145604228	chr4:119125245-119125246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs368752003	chr4:119125248-119125249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs546151467	chr4:119125372-119125373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs544773546	chr4:119125382-119125383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs559575139	chr4:119125402-119125403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs563252522	chr4:119125409-119125410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs369215825	chr4:119125417-119125418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs199624564	chr4:119125444-119125445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs67050636	chr4:119125451-119125452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs112269249	chr4:119125452-119125453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs75434208	chr4:119125456-119125457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs549986741	chr4:119125459-119125460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs541909748	chr4:119125467-119125468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs191460185	chr4:119125488-119125489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183163464	chr4:119125588-119125589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs187815625	chr4:119125613-119125614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs564167822	chr4:119125636-119125637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs192710046	chr4:119125647-119125648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs572253174	chr4:119125711-119125712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs60418385	chr4:119125725-119125726	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs140750520	chr4:119125745-119125746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs182274489	chr4:119125797-119125798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs115702703	chr4:119125804-119125805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536617004	chr4:119125821-119125822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556977340	chr4:119125893-119125894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10018706	chr4:119126335-119126336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539740081	chr4:119126343-119126344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553304339	chr4:119126365-119126366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Autism	22495311	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
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	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
Colorectal cancer	20459617	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119112000-119125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:119120800-119125800	ZNF genes & repeats	Dnd41	blood
3	chr4:119125200-119125600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:119125800-119127600	Weak transcription	Dnd41	blood
5	chr4:119126600-119126800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
6	chr4:119126800-119129600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:119127600-119131200	Strong transcription	Dnd41	blood
8	chr4:119128400-119128800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:119128400-119129000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:119128600-119129000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:119128600-119129200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:119128600-119129800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:119128800-119129000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:119128800-119130000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:119129000-119129400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:119129000-119130600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:119129200-119130400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:119129400-119130400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:119129600-119129800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr4:119129800-119130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:119130000-119130400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:119130200-119130600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:119130400-119131400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:119130400-119131600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:119130600-119130800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr4:119130600-119131200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:119130600-119131400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:119130800-119131400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:119131200-119133000	Weak transcription	Dnd41	blood

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