Variant report

Variant	esv3409750
Chromosome Location	chr4:149257529-149257879
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	chr4:149254880..149257855-chr4:149263037..149265011,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6818452	chr4:149257565-149257566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs28452605	chr4:149257589-149257590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs77471307	chr4:149257602-149257603	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555626658	chr4:149257611-149257612	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12649394	chr4:149257643-149257644	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140812645	chr4:149257654-149257655	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564410432	chr4:149257663-149257664	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533040534	chr4:149257691-149257692	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34611880	chr4:149257718-149257719	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568231224	chr4:149257720-149257721	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371023421	chr4:149257735-149257736	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546196340	chr4:149257740-149257741	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559460259	chr4:149257769-149257770	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532052458	chr4:149257814-149257815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145783305	chr4:149257816-149257817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548263447	chr4:149257864-149257865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568357195	chr4:149257865-149257866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114303025	chr4:149257872-149257873	Weak transcription Strong 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
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
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
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Epilepsy	22083797	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149235000-149266800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:149244400-149257600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:149249400-149261400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:149249400-149263200	Weak transcription	Right Atrium	heart
5	chr4:149249400-149271200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr4:149251800-149265000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:149252000-149267000	Weak transcription	Right Ventricle	heart
8	chr4:149252200-149257600	Weak transcription	Aorta	Aorta
9	chr4:149257200-149257600	Enhancers	Left Ventricle	heart
10	chr4:149257400-149257600	Enhancers	Spleen	Spleen
11	chr4:149257600-149257800	Enhancers	Aorta	Aorta
12	chr4:149257600-149258000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr4:149257600-149263200	Weak transcription	Left Ventricle	heart

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