Variant report

Variant	esv3512787
Chromosome Location	chr4:120275104-120279402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs72918504	chr4:120275130-120275131	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs67050011	chr4:120275146-120275147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532171079	chr4:120275157-120275158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551737168	chr4:120275188-120275189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565461070	chr4:120275193-120275194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528141021	chr4:120275196-120275197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548384800	chr4:120275223-120275224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568594644	chr4:120275263-120275264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62320725	chr4:120275268-120275269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs11724530	chr4:120275328-120275329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375352607	chr4:120275337-120275338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62320726	chr4:120275344-120275345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs201551469	chr4:120275345-120275346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539868935	chr4:120275391-120275392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369440165	chr4:120275423-120275424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573387072	chr4:120275448-120275449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs3817230	chr4:120275499-120275500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs189061573	chr4:120275522-120275523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376410002	chr4:120275561-120275562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182007833	chr4:120275575-120275576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563630924	chr4:120275620-120275621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577037500	chr4:120275653-120275654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545411614	chr4:120275654-120275655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558883117	chr4:120275660-120275661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56818816	chr4:120275663-120275664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs547930243	chr4:120275686-120275687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186392647	chr4:120275715-120275716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79319059	chr4:120275733-120275734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201322466	chr4:120275740-120275741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56811197	chr4:120275743-120275744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62320728	chr4:120275744-120275745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62320729	chr4:120275746-120275747	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs372376956	chr4:120275748-120275749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370142056	chr4:120275749-120275750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77968117	chr4:120275765-120275766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34708009	chr4:120275766-120275767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200169198	chr4:120275767-120275768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540851248	chr4:120275789-120275790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13122306	chr4:120275801-120275802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs79825884	chr4:120275803-120275804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540102183	chr4:120275812-120275813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189912858	chr4:120275824-120275825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6858660	chr4:120275825-120275826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs180677006	chr4:120275834-120275835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114404789	chr4:120275852-120275853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575631140	chr4:120275947-120275948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537274807	chr4:120275989-120275990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28633994	chr4:120276037-120276038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs577077622	chr4:120276042-120276043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186378794	chr4:120276053-120276054	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120269200-120277600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:120269600-120293000	Weak transcription	Fetal Heart	heart
3	chr4:120273800-120275200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:120274400-120275200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:120274400-120275400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:120274400-120275400	Enhancers	NHEK	skin
7	chr4:120274800-120275200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:120274800-120275400	Enhancers	HMEC	breast
9	chr4:120275000-120275200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:120275400-120276600	Weak transcription	HMEC	breast
11	chr4:120276800-120277000	Enhancers	HMEC	breast
12	chr4:120276800-120277600	Enhancers	HSMM	muscle
13	chr4:120276800-120278000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:120277000-120277200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:120277600-120278000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:120277600-120278000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:120277800-120278000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:120278000-120278400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:120278000-120278400	Enhancers	Skeletal Muscle Female	skeletal muscle

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