Variant report

Variant	esv32740
Chromosome Location	chr4:130074483-130080201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:130076709..130080832-chr4:130084299..130086360,3	K562	blood:
2	chr4:130071377..130073525-chr4:130073844..130076001,2	MCF-7	breast:
3	chr4:130012024..130014781-chr4:130073486..130075302,2	K562	blood:

Variant related genes	Relation type
ENSG00000151466	chromatin interactions
ENSG00000151470	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375416250	chr4:130074505-130074506	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs571814251	chr4:130074529-130074530	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs539244658	chr4:130074550-130074551	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs551150240	chr4:130074567-130074568	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs397881102	chr4:130074580-130074581	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs76998993	chr4:130074581-130074582	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568985770	chr4:130074597-130074598	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs536341802	chr4:130074605-130074606	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs11721951	chr4:130074618-130074619	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs545780611	chr4:130074619-130074620	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs74532766	chr4:130074635-130074636	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs542458553	chr4:130074658-130074659	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs139635223	chr4:130074659-130074660	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs112245137	chr4:130074669-130074670	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs561739470	chr4:130074704-130074705	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1877836	chr4:130074764-130074765	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs144361982	chr4:130074868-130074869	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184176256	chr4:130074913-130074914	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs146124936	chr4:130074927-130074928	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs13123966	chr4:130074947-130074948	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs564101598	chr4:130074955-130074956	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs374926477	chr4:130074967-130074968	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs560982408	chr4:130074976-130074977	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs564882489	chr4:130075011-130075012	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs546651035	chr4:130075079-130075080	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs11933725	chr4:130075104-130075105	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs546854632	chr4:130075166-130075167	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs532657270	chr4:130075216-130075217	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
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
Developmental delay	21147756	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
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130074800-130075000	Enhancers	Aorta	Aorta

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