Variant report

Variant	esv3521069
Chromosome Location	chr4:76742178-76744366
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	chr4:76744145-76744233	NONHSAT096941

Extended variants
information (count: 99 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567557264	chr4:76742288-76742289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535187222	chr4:76742296-76742297	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553215609	chr4:76742381-76742382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571670843	chr4:76742382-76742383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191581043	chr4:76742383-76742384	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150211019	chr4:76742385-76742386	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376722050	chr4:76742438-76742439	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545383809	chr4:76742473-76742474	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557370333	chr4:76742487-76742488	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183765207	chr4:76742516-76742517	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187997057	chr4:76742539-76742540	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542976092	chr4:76742540-76742541	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528152257	chr4:76742612-76742613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192464041	chr4:76742646-76742647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185413045	chr4:76742683-76742684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573096573	chr4:76742738-76742739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540375210	chr4:76742772-76742773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371299389	chr4:76742830-76742831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374610388	chr4:76742860-76742861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4859556	chr4:76742867-76742868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4859557	chr4:76742873-76742874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562172661	chr4:76742874-76742875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529626927	chr4:76742877-76742878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549285383	chr4:76742882-76742883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28706514	chr4:76742883-76742884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571076125	chr4:76742890-76742891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566673367	chr4:76742909-76742910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370033134	chr4:76742915-76742916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571742676	chr4:76742922-76742923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539147583	chr4:76742947-76742948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181488690	chr4:76742966-76742967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569288783	chr4:76742967-76742968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541203421	chr4:76743012-76743013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113641294	chr4:76743035-76743036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113079622	chr4:76743040-76743041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112501393	chr4:76743045-76743046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13119628	chr4:76743056-76743057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs554904222	chr4:76743060-76743061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113637353	chr4:76743063-76743064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111636040	chr4:76743068-76743069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533836665	chr4:76743100-76743101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112061052	chr4:76743110-76743111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114713179	chr4:76743122-76743123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188514784	chr4:76743197-76743198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148298361	chr4:76743229-76743230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557044352	chr4:76743287-76743288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574120508	chr4:76743320-76743321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181020919	chr4:76743349-76743350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367869380	chr4:76743367-76743368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140421926	chr4:76743438-76743439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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

Chromatin state (count:63 , 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	chr4:76736600-76743400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:76736600-76743600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:76736600-76743600	Weak transcription	Gastric	stomach
8	chr4:76736600-76744600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:76736600-76763200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:76736800-76742400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:76736800-76742400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:76736800-76742400	Weak transcription	HMEC	breast
13	chr4:76736800-76743400	Weak transcription	Fetal Heart	heart
14	chr4:76736800-76743400	Weak transcription	Left Ventricle	heart
15	chr4:76736800-76745000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:76736800-76745000	Weak transcription	Ovary	ovary
17	chr4:76736800-76745000	Weak transcription	K562	blood
18	chr4:76736800-76746400	Weak transcription	Brain Anterior Caudate	brain
19	chr4:76736800-76753000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:76737000-76745200	Weak transcription	Fetal Lung	lung
21	chr4:76737000-76753000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:76737200-76743800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:76737400-76745000	Weak transcription	Fetal Intestine Small	intestine
24	chr4:76737600-76751000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:76738000-76743200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:76738000-76743400	Weak transcription	Lung	lung
27	chr4:76738200-76743200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:76738200-76743200	Weak transcription	A549	lung
29	chr4:76738200-76743600	Weak transcription	HSMM	muscle
30	chr4:76738200-76745000	Weak transcription	HSMMtube	muscle
31	chr4:76738200-76745200	Weak transcription	Osteobl	bone
32	chr4:76738200-76748400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:76738200-76753000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:76738400-76744800	Weak transcription	NH-A	brain
35	chr4:76738400-76751800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:76738600-76743800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:76738600-76744000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:76738800-76745000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:76741200-76742600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr4:76741400-76742400	Enhancers	HepG2	liver
41	chr4:76741800-76743800	Enhancers	Pancreas	Pancrea
42	chr4:76742000-76742200	Enhancers	Esophagus	oesophagus
43	chr4:76742000-76742600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:76742400-76742600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr4:76742400-76742600	Enhancers	HMEC	breast
46	chr4:76742600-76742800	Weak transcription	HMEC	breast
47	chr4:76742600-76745000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:76743200-76743600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:76743200-76743800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:76743200-76744200	Enhancers	A549	lung

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