Variant report

Variant	esv2653342
Chromosome Location	chr4:119295666-119297051
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	chr4:119204030..119205775-chr4:119295374..119296879,2	K562	blood:
2	chr4:119199853..119201646-chr4:119293860..119297820,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269893	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553361708	chr4:119295717-119295718	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534616844	chr4:119295757-119295758	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186400401	chr4:119295763-119295764	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554832704	chr4:119295787-119295788	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568289612	chr4:119295800-119295801	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542205889	chr4:119295827-119295828	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556914840	chr4:119295902-119295903	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576634490	chr4:119295923-119295924	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs139402250	chr4:119295928-119295929	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs9997615	chr4:119295954-119295955	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs146518562	chr4:119295984-119295985	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541895504	chr4:119296014-119296015	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562384999	chr4:119296097-119296098	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs531157180	chr4:119296117-119296118	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544783687	chr4:119296135-119296136	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139798771	chr4:119296153-119296154	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557939801	chr4:119296162-119296163	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111524745	chr4:119296170-119296171	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs578076270	chr4:119296191-119296192	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545906462	chr4:119296219-119296220	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190861522	chr4:119296223-119296224	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149675265	chr4:119296225-119296226	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12508387	chr4:119296237-119296238	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs72670218	chr4:119296253-119296254	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371563895	chr4:119296351-119296352	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs150755850	chr4:119296352-119296353	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs13146170	chr4:119296354-119296355	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528067323	chr4:119296361-119296362	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369982771	chr4:119296367-119296368	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs578022388	chr4:119296368-119296369	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547920783	chr4:119296372-119296373	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568333490	chr4:119296376-119296377	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536905650	chr4:119296377-119296378	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541876781	chr4:119296378-119296379	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs199868055	chr4:119296382-119296383	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs561666677	chr4:119296386-119296387	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557223397	chr4:119296532-119296533	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570285663	chr4:119296540-119296541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113187302	chr4:119296565-119296566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553037314	chr4:119296626-119296627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573031876	chr4:119296703-119296704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185195610	chr4:119296711-119296712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111870468	chr4:119296716-119296717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs555519339	chr4:119296726-119296727	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190850503	chr4:119296736-119296737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs17516582	chr4:119296763-119296764	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544549511	chr4:119296784-119296785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183219364	chr4:119296817-119296818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs578204024	chr4:119296835-119296836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532953145	chr4:119296836-119296837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119294400-119296400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:119294600-119295800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:119295600-119295800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:119296400-119297800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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