Variant report

Variant	esv3467669
Chromosome Location	chr4:76741328-76746326
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	chr4:76741166..76744063-chr4:76769113..76771616,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USO1-1	chr4:76744128-76744233	XLOC_003578
2	lnc-USO1-1	chr4:76746292-76746496	XLOC_003578
3	lnc-USO1-1	chr4:76744145-76744233	NONHSAT096941
4	lnc-USO1-1	chr4:76746292-76746765	NONHSAT096941

Extended variants
information (count: 216 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568821617	chr4:76741361-76741362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559535681	chr4:76741374-76741375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369645114	chr4:76741375-76741376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577950672	chr4:76741379-76741380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545011804	chr4:76741397-76741398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183558407	chr4:76741400-76741401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530749280	chr4:76741415-76741416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549156362	chr4:76741437-76741438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540611596	chr4:76741468-76741469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561053197	chr4:76741469-76741470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528239124	chr4:76741478-76741479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116750144	chr4:76741487-76741488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571188630	chr4:76741495-76741496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370374150	chr4:76741509-76741510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548957003	chr4:76741515-76741516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551807865	chr4:76741544-76741545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570282912	chr4:76741606-76741607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537257305	chr4:76741631-76741632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145487120	chr4:76741654-76741655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567516757	chr4:76741665-76741666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534821923	chr4:76741679-76741680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553419153	chr4:76741680-76741681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577973331	chr4:76741699-76741700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188598559	chr4:76741732-76741733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11940322	chr4:76741756-76741757	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs115844512	chr4:76741786-76741787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542937408	chr4:76741832-76741833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561092547	chr4:76741859-76741860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528280212	chr4:76741879-76741880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192847244	chr4:76741906-76741907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564963323	chr4:76741928-76741929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532014188	chr4:76741951-76741952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183285099	chr4:76742039-76742040	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187008878	chr4:76742040-76742041	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568504428	chr4:76742072-76742073	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531156278	chr4:76742135-76742136	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76673211	chr4:76742147-76742148	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567557264	chr4:76742288-76742289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535187222	chr4:76742296-76742297	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553215609	chr4:76742381-76742382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571670843	chr4:76742382-76742383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191581043	chr4:76742383-76742384	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150211019	chr4:76742385-76742386	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376722050	chr4:76742438-76742439	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545383809	chr4:76742473-76742474	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557370333	chr4:76742487-76742488	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183765207	chr4:76742516-76742517	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187997057	chr4:76742539-76742540	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542976092	chr4:76742540-76742541	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528152257	chr4:76742612-76742613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76736200-76743400	Weak transcription	Fetal Brain Male	brain
2	chr4:76736400-76742200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:76736400-76743600	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:76736400-76744800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:76736600-76741400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:76736600-76741400	Weak transcription	HepG2	liver
7	chr4:76736600-76742000	Weak transcription	Esophagus	oesophagus
8	chr4:76736600-76743400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:76736600-76743600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:76736600-76743600	Weak transcription	Gastric	stomach
11	chr4:76736600-76744600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:76736600-76763200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:76736800-76742400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:76736800-76742400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:76736800-76742400	Weak transcription	HMEC	breast
16	chr4:76736800-76743400	Weak transcription	Fetal Heart	heart
17	chr4:76736800-76743400	Weak transcription	Left Ventricle	heart
18	chr4:76736800-76745000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:76736800-76745000	Weak transcription	Ovary	ovary
20	chr4:76736800-76745000	Weak transcription	K562	blood
21	chr4:76736800-76746400	Weak transcription	Brain Anterior Caudate	brain
22	chr4:76736800-76753000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:76737000-76741800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:76737000-76745200	Weak transcription	Fetal Lung	lung
25	chr4:76737000-76753000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:76737200-76743800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:76737400-76741400	Weak transcription	Adipose Nuclei	Adipose
28	chr4:76737400-76745000	Weak transcription	Fetal Intestine Small	intestine
29	chr4:76737600-76751000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:76738000-76743200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:76738000-76743400	Weak transcription	Lung	lung
32	chr4:76738200-76743200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:76738200-76743200	Weak transcription	A549	lung
34	chr4:76738200-76743600	Weak transcription	HSMM	muscle
35	chr4:76738200-76745000	Weak transcription	HSMMtube	muscle
36	chr4:76738200-76745200	Weak transcription	Osteobl	bone
37	chr4:76738200-76748400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:76738200-76753000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:76738400-76742000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:76738400-76744800	Weak transcription	NH-A	brain
41	chr4:76738400-76751800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:76738600-76743800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:76738600-76744000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:76738800-76745000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:76740200-76741800	Weak transcription	Pancreas	Pancrea
46	chr4:76741200-76742600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr4:76741400-76741600	Enhancers	Adipose Nuclei	Adipose
48	chr4:76741400-76742400	Enhancers	HepG2	liver
49	chr4:76741800-76742000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:76741800-76743800	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links