Variant report

Variant	esv3529962
Chromosome Location	chr4:119125408-119130206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563252522	chr4:119125409-119125410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs369215825	chr4:119125417-119125418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs199624564	chr4:119125444-119125445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs67050636	chr4:119125451-119125452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs112269249	chr4:119125452-119125453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs75434208	chr4:119125456-119125457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs549986741	chr4:119125459-119125460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541909748	chr4:119125467-119125468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs191460185	chr4:119125488-119125489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs183163464	chr4:119125588-119125589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs187815625	chr4:119125613-119125614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564167822	chr4:119125636-119125637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs192710046	chr4:119125647-119125648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs572253174	chr4:119125711-119125712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs60418385	chr4:119125725-119125726	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140750520	chr4:119125745-119125746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs182274489	chr4:119125797-119125798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs115702703	chr4:119125804-119125805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536617004	chr4:119125821-119125822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556977340	chr4:119125893-119125894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10018706	chr4:119126335-119126336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539740081	chr4:119126343-119126344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553304339	chr4:119126365-119126366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572910440	chr4:119126366-119126367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186635851	chr4:119126477-119126478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143038118	chr4:119126546-119126547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555550072	chr4:119126592-119126593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575671273	chr4:119126672-119126673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544334121	chr4:119126702-119126703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34248952	chr4:119126717-119126718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28665169	chr4:119126720-119126721	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74812588	chr4:119126740-119126741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540479215	chr4:119126776-119126777	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13121129	chr4:119126931-119126932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560424882	chr4:119126937-119126938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148210537	chr4:119126979-119126980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151020290	chr4:119126987-119126988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56843725	chr4:119126988-119126989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77222274	chr4:119126989-119126990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79665470	chr4:119127002-119127003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397995128	chr4:119127005-119127006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545401295	chr4:119127011-119127012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192720113	chr4:119127050-119127051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569382145	chr4:119127074-119127075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530617081	chr4:119127093-119127094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558885291	chr4:119127115-119127116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570414184	chr4:119127137-119127138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184639649	chr4:119127145-119127146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545667823	chr4:119127208-119127209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189912293	chr4:119127235-119127236	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:21 , 50 per page) page: 1

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

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