Variant report

Variant	esv2526820
Chromosome Location	chr4:82096533-82098245
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	chr4:82097023..82097768-chr9:106930130..106930952,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMP3-1	chr4:82096598-82096745	ENSG00000251059.1
2	lnc-BMP3-1	chr4:82096598-82096745	ENSG00000251059.1
3	lnc-BMP3-1	chr4:82097152-82097191	ENSG00000251059.1

Extended variants
information (count: 58 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572236367	chr4:82096598-82096599	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs116599034	chr4:82096631-82096632	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs371458566	chr4:82096636-82096637	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs78308303	chr4:82096691-82096692	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs17005085	chr4:82096695-82096696	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs28445932	chr4:82096735-82096736	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551127866	chr4:82096746-82096747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368978050	chr4:82096781-82096782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10516650	chr4:82096820-82096821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531601940	chr4:82096842-82096843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568350654	chr4:82096889-82096890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548250349	chr4:82096989-82096990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377545464	chr4:82097068-82097069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190339440	chr4:82097083-82097084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28491787	chr4:82097085-82097086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181783323	chr4:82097086-82097087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28669195	chr4:82097099-82097100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185317577	chr4:82097162-82097163	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs566812195	chr4:82097187-82097188	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs539010619	chr4:82097229-82097230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189729340	chr4:82097249-82097250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556316660	chr4:82097316-82097317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143922057	chr4:82097368-82097369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535472414	chr4:82097369-82097370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28633593	chr4:82097383-82097384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376419683	chr4:82097435-82097436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs386676568	chr4:82097451-82097452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1400747	chr4:82097455-82097456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147268613	chr4:82097467-82097468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12643702	chr4:82097474-82097475	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557594035	chr4:82097504-82097505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182805397	chr4:82097522-82097523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186275566	chr4:82097523-82097524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562653820	chr4:82097571-82097572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576120979	chr4:82097584-82097585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542259206	chr4:82097662-82097663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561913460	chr4:82097747-82097748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10003341	chr4:82097777-82097778	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574461657	chr4:82097793-82097794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532407814	chr4:82097795-82097796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375680656	chr4:82097796-82097797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192084925	chr4:82097800-82097801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10005912	chr4:82097836-82097837	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs148306389	chr4:82097851-82097852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550387331	chr4:82097862-82097863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538621272	chr4:82097882-82097883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535179049	chr4:82097912-82097913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141414146	chr4:82097957-82097958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565552825	chr4:82097999-82098000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534580723	chr4:82098028-82098029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
lymphocytic leukemia	21291569	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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82086200-82097000	Weak transcription	NHLF	lung
2	chr4:82086600-82104800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:82088000-82113800	Weak transcription	Fetal Intestine Large	intestine
4	chr4:82088200-82114400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:82089200-82097400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:82090600-82104400	Weak transcription	Fetal Intestine Small	intestine
7	chr4:82093200-82099000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:82093600-82115400	Weak transcription	NHDF-Ad	bronchial
9	chr4:82095800-82098600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:82096200-82099000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:82097400-82100000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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