Variant report

Variant	esv3377839
Chromosome Location	chr4:125806152-125809897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:125782896..125785311-chr4:125806709..125809197,2	MCF-7	breast:
2	chr4:125633614..125636587-chr4:125806033..125809617,4	MCF-7	breast:
3	chr4:125632895..125634759-chr4:125807417..125811100,3	MCF-7	breast:
4	chr4:125806088..125809015-chr4:125822425..125824576,2	MCF-7	breast:
5	chr4:125808803..125809436-chr4:125885151..125885920,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151458	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142806009	chr4:125806162-125806163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146875452	chr4:125806163-125806164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs33925724	chr4:125806164-125806165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78297988	chr4:125806166-125806167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200687545	chr4:125806167-125806168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551615023	chr4:125806211-125806212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561910520	chr4:125806213-125806214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10034057	chr4:125806225-125806226	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188187949	chr4:125806240-125806241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530715751	chr4:125806307-125806308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192474338	chr4:125806334-125806335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542986605	chr4:125806364-125806365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576006724	chr4:125806421-125806422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs151097287	chr4:125806436-125806437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184273943	chr4:125806500-125806501	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565566931	chr4:125806556-125806557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35500952	chr4:125806595-125806596	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557608608	chr4:125806652-125806653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570583673	chr4:125806681-125806682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576096935	chr4:125806731-125806732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536702094	chr4:125806757-125806758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555165803	chr4:125806801-125806802	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573468211	chr4:125806818-125806819	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141334741	chr4:125806827-125806828	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs190389228	chr4:125806837-125806838	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs533025799	chr4:125806859-125806860	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10024371	chr4:125806867-125806868	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545378962	chr4:125806882-125806883	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563484888	chr4:125806885-125806886	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200728508	chr4:125806893-125806894	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368736135	chr4:125806946-125806947	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531053913	chr4:125807021-125807022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112814457	chr4:125807072-125807073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs192419439	chr4:125807110-125807111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561498087	chr4:125807134-125807135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145063073	chr4:125807163-125807164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547362353	chr4:125807207-125807208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571899115	chr4:125807210-125807211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146804697	chr4:125807213-125807214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536194072	chr4:125807232-125807233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140514641	chr4:125807242-125807243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569521953	chr4:125807248-125807249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150415650	chr4:125807268-125807269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs555029831	chr4:125807320-125807321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573530828	chr4:125807464-125807465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184591560	chr4:125807537-125807538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553035783	chr4:125807545-125807546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1506544	chr4:125807602-125807603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs62323306	chr4:125807629-125807630	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs114735311	chr4:125807658-125807659	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	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
Acute promyelocytic leukemia	19109227	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125798200-125820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:125805800-125806800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:125806800-125807000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr4:125807800-125814000	Weak transcription	Gastric	stomach
5	chr4:125808200-125808600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:125808200-125809400	Enhancers	Hela-S3	cervix
7	chr4:125808400-125808600	Enhancers	Lung	lung

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