Variant report

Variant	nsv470049
Chromosome Location	chr4:86750699-86776488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:86758093..86760173-chr4:86804562..86807184,2	MCF-7	breast:
2	chr4:86762784..86764294-chr4:86767286..86769112,2	MCF-7	breast:
3	chr4:86747317..86749374-chr4:86754151..86756768,2	MCF-7	breast:
4	chr4:86762784..86764294-chr4:86767286..86769112,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138639	chromatin interactions

Extended variants
information (count: 950 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:950 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs345363	chr4:86750699-86750700	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575499957	chr4:86750876-86750877	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs546224020	chr4:86750889-86750890	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs181922403	chr4:86750892-86750893	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs115969396	chr4:86750915-86750916	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs139741626	chr4:86750959-86750960	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559092908	chr4:86751022-86751023	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550739877	chr4:86751041-86751042	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs370927959	chr4:86751081-86751082	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs373900390	chr4:86751099-86751100	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs1397379	chr4:86751132-86751133	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs529915938	chr4:86751139-86751140	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs28421282	chr4:86751145-86751146	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs117075685	chr4:86751164-86751165	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530414287	chr4:86751170-86751171	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs143994849	chr4:86751243-86751244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571135959	chr4:86751300-86751301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559038989	chr4:86751316-86751317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17011024	chr4:86751384-86751385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184555481	chr4:86751401-86751402	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376035856	chr4:86751458-86751459	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146409695	chr4:86751495-86751496	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536052311	chr4:86751538-86751539	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190003464	chr4:86751542-86751543	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181874959	chr4:86751545-86751546	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77245753	chr4:86751604-86751605	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533055286	chr4:86751707-86751708	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186492546	chr4:86751715-86751716	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3796625	chr4:86751718-86751719	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs71599429	chr4:86751720-86751721	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567885100	chr4:86751807-86751808	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79737993	chr4:86751861-86751862	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374358208	chr4:86751908-86751909	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140802936	chr4:86751962-86751963	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529845938	chr4:86751975-86751976	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149689524	chr4:86751978-86751979	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563220096	chr4:86752022-86752023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191332520	chr4:86752054-86752055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552321365	chr4:86752179-86752180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17011039	chr4:86752279-86752280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548517311	chr4:86752304-86752305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568665684	chr4:86752379-86752380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6844781	chr4:86752397-86752398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs17011041	chr4:86752457-86752458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570506814	chr4:86752481-86752482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181160571	chr4:86752632-86752633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551229042	chr4:86752635-86752636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569232767	chr4:86752673-86752674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539448516	chr4:86752730-86752731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4693741	chr4:86752804-86752805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

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
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
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
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86737600-86763200	Weak transcription	Primary B cells from cord blood	blood
2	chr4:86747800-86752600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr4:86749400-86751000	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:86749400-86752600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:86749400-86752800	Weak transcription	Left Ventricle	heart
6	chr4:86749400-86753200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:86749400-86753200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:86749400-86753200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:86749400-86753200	Weak transcription	Gastric	stomach
10	chr4:86749400-86754400	Weak transcription	Right Ventricle	heart
11	chr4:86749400-86758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:86749400-86761600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:86749400-86787600	Weak transcription	Pancreas	Pancrea
14	chr4:86749600-86753000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:86749600-86753200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:86749600-86753200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:86749600-86754600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:86749600-86761200	Weak transcription	Ovary	ovary
19	chr4:86749600-86763600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:86749800-86750800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:86749800-86750800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:86749800-86750800	Enhancers	Stomach Smooth Muscle	stomach
23	chr4:86749800-86750800	Weak transcription	A549	lung
24	chr4:86749800-86751600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:86749800-86752800	Weak transcription	Right Atrium	heart
26	chr4:86749800-86753000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:86749800-86753000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:86749800-86753000	Weak transcription	Aorta	Aorta
29	chr4:86749800-86753200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:86749800-86758000	Weak transcription	NHLF	lung
31	chr4:86750000-86751200	Weak transcription	Psoas Muscle	Psoas
32	chr4:86750000-86751600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:86750000-86753200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:86750000-86754000	Weak transcription	Adipose Nuclei	Adipose
35	chr4:86750000-86754200	Weak transcription	Fetal Intestine Small	intestine
36	chr4:86750000-86757800	Weak transcription	Fetal Stomach	stomach
37	chr4:86750000-86809200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr4:86750200-86751000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:86750200-86751000	Weak transcription	Osteobl	bone
40	chr4:86750200-86751800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:86750200-86752800	Weak transcription	Fetal Lung	lung
42	chr4:86750400-86750800	Enhancers	Fetal Muscle Leg	muscle
43	chr4:86750400-86751600	Enhancers	Fetal Heart	heart
44	chr4:86750600-86750800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:86750600-86750800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr4:86750600-86750800	Genic enhancers	HUVEC	blood vessel
47	chr4:86750600-86751000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr4:86750600-86751000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr4:86750600-86751200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:86750600-86751200	Flanking Active TSS	Fetal Kidney	kidney

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