Variant report

Variant	esv14694
Chromosome Location	chr4:76743255-76744325
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: 52 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557044352	chr4:76743287-76743288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574120508	chr4:76743320-76743321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181020919	chr4:76743349-76743350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367869380	chr4:76743367-76743368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140421926	chr4:76743438-76743439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546955211	chr4:76743457-76743458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565506648	chr4:76743459-76743460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150432137	chr4:76743475-76743476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184998368	chr4:76743477-76743478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10022736	chr4:76743482-76743483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs536654902	chr4:76743508-76743509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62321561	chr4:76743521-76743522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs77230676	chr4:76743539-76743540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76696672	chr4:76743540-76743541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572498262	chr4:76743582-76743583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191026094	chr4:76743587-76743588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138191929	chr4:76743593-76743594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558558351	chr4:76743608-76743609	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535104012	chr4:76743611-76743612	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141773352	chr4:76743612-76743613	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537623666	chr4:76743617-76743618	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555846414	chr4:76743622-76743623	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569636890	chr4:76743649-76743650	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537067652	chr4:76743667-76743668	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs59856654	chr4:76743680-76743681	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559741735	chr4:76743681-76743682	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13124560	chr4:76743692-76743693	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13106486	chr4:76743693-76743694	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146237454	chr4:76743702-76743703	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138155529	chr4:76743725-76743726	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs578077645	chr4:76743728-76743729	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544005579	chr4:76743762-76743763	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565410719	chr4:76743821-76743822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182449297	chr4:76743822-76743823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142651617	chr4:76743825-76743826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116369308	chr4:76743826-76743827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530264396	chr4:76743830-76743831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76264647	chr4:76743865-76743866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574274270	chr4:76743868-76743869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565474798	chr4:76743882-76743883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551748957	chr4:76743948-76743949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13107337	chr4:76743995-76743996	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs72651313	chr4:76744008-76744009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs114401209	chr4:76744016-76744017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80042576	chr4:76744106-76744107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537662331	chr4:76744110-76744111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114111383	chr4:76744131-76744132	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs75795109	chr4:76744158-76744159	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs547626643	chr4:76744187-76744188	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs186991864	chr4:76744207-76744208	Weak transcription	lncRNA	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76736200-76743400	Weak transcription	Fetal Brain Male	brain
2	chr4:76736400-76743600	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:76736400-76744800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:76736600-76743400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:76736600-76743600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:76736600-76743600	Weak transcription	Gastric	stomach
7	chr4:76736600-76744600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:76736600-76763200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:76736800-76743400	Weak transcription	Fetal Heart	heart
10	chr4:76736800-76743400	Weak transcription	Left Ventricle	heart
11	chr4:76736800-76745000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:76736800-76745000	Weak transcription	Ovary	ovary
13	chr4:76736800-76745000	Weak transcription	K562	blood
14	chr4:76736800-76746400	Weak transcription	Brain Anterior Caudate	brain
15	chr4:76736800-76753000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:76737000-76745200	Weak transcription	Fetal Lung	lung
17	chr4:76737000-76753000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:76737200-76743800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:76737400-76745000	Weak transcription	Fetal Intestine Small	intestine
20	chr4:76737600-76751000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:76738000-76743400	Weak transcription	Lung	lung
22	chr4:76738200-76743600	Weak transcription	HSMM	muscle
23	chr4:76738200-76745000	Weak transcription	HSMMtube	muscle
24	chr4:76738200-76745200	Weak transcription	Osteobl	bone
25	chr4:76738200-76748400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:76738200-76753000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:76738400-76744800	Weak transcription	NH-A	brain
28	chr4:76738400-76751800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:76738600-76743800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:76738600-76744000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:76738800-76745000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:76741800-76743800	Enhancers	Pancreas	Pancrea
33	chr4:76742600-76745000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:76743200-76743600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:76743200-76743800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:76743200-76744200	Enhancers	A549	lung
37	chr4:76743400-76743600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:76743400-76743600	Enhancers	Fetal Heart	heart
39	chr4:76743400-76743600	Enhancers	Left Ventricle	heart
40	chr4:76743400-76743600	Enhancers	Lung	lung
41	chr4:76743600-76743800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:76743600-76743800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:76743600-76743800	Enhancers	Colon Smooth Muscle	Colon
44	chr4:76743600-76743800	Enhancers	Gastric	stomach
45	chr4:76743600-76745000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:76743800-76744000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr4:76743800-76744800	Weak transcription	Pancreas	Pancrea
48	chr4:76743800-76764800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:76744200-76744600	Weak transcription	A549	lung

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