Variant report

Variant	nsv594699
Chromosome Location	chr4:78534857-78563584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:78306259..78307081-chr4:78539517..78540020,2	K562	blood:
2	chr4:78540911..78543447-chr4:78545553..78547631,2	MCF-7	breast:
3	chr4:78539512..78540036-chr4:78619176..78619985,2	MCF-7	breast:
4	chr4:78552964..78554952-chr4:78555723..78558165,2	MCF-7	breast:
5	chr4:78539680..78541728-chr4:78543487..78545525,2	MCF-7	breast:
6	chr4:78532722..78535241-chr4:78538489..78541830,3	MCF-7	breast:
7	chr4:78538801..78540562-chr4:78562420..78564607,2	MCF-7	breast:
8	chr4:78552964..78554952-chr4:78555723..78558165,2	MCF-7	breast:
9	chr4:78306282..78306818-chr4:78539506..78540132,2	MCF-7	breast:
10	chr4:78539680..78541728-chr4:78543487..78545525,2	MCF-7	breast:
11	chr4:78538801..78540562-chr4:78562420..78564607,2	MCF-7	breast:
12	chr4:78532722..78535241-chr4:78538489..78541830,3	MCF-7	breast:
13	chr4:78540911..78543447-chr4:78545553..78547631,2	MCF-7	breast:
14	chr4:78521938..78522727-chr4:78539308..78540406,4	MCF-7	breast:
15	chr4:78530875..78532515-chr4:78534945..78537935,2	K562	blood:
16	chr4:78528761..78530717-chr4:78532586..78534961,2	MCF-7	breast:
17	chr4:78386143..78387109-chr4:78539081..78540489,9	MCF-7	breast:

No data

Extended variants
information (count: 1027 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1027 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7660547	chr4:78534857-78534858	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550039058	chr4:78534869-78534870	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567437059	chr4:78534914-78534915	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201086199	chr4:78534924-78534925	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199635705	chr4:78534926-78534927	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113921420	chr4:78534928-78534929	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569825357	chr4:78534943-78534944	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148648743	chr4:78534965-78534966	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3048214	chr4:78534968-78534969	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7677010	chr4:78534970-78534971	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182925492	chr4:78534983-78534984	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75253711	chr4:78535022-78535023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371748488	chr4:78535024-78535025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7677202	chr4:78535069-78535070	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs115733599	chr4:78535081-78535082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75175608	chr4:78535120-78535121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144198676	chr4:78535189-78535190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200489536	chr4:78535237-78535238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372044781	chr4:78535266-78535267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534234068	chr4:78535342-78535343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75720331	chr4:78535350-78535351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114755704	chr4:78535359-78535360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528119314	chr4:78535391-78535392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6852489	chr4:78535427-78535428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571227221	chr4:78535469-78535470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570973111	chr4:78535503-78535504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530846748	chr4:78535566-78535567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190808784	chr4:78535571-78535572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567476176	chr4:78535582-78535583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536047801	chr4:78535583-78535584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114047863	chr4:78535612-78535613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566829443	chr4:78535664-78535665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183872029	chr4:78535692-78535693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80192725	chr4:78535696-78535697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564726999	chr4:78535718-78535719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544514437	chr4:78535784-78535785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554834032	chr4:78535811-78535812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542130846	chr4:78535830-78535831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189076390	chr4:78535832-78535833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540449576	chr4:78535835-78535836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559436526	chr4:78535836-78535837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572864346	chr4:78535902-78535903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147359531	chr4:78535919-78535920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572626726	chr4:78535933-78535934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373481483	chr4:78535935-78535936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62304096	chr4:78535950-78535951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530474746	chr4:78535974-78535975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541443919	chr4:78536029-78536030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140172791	chr4:78536081-78536082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192174646	chr4:78536094-78536095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
primary effusion lymphomas	17116491	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78529600-78540000	Weak transcription	Right Atrium	heart
2	chr4:78532000-78544000	Weak transcription	Fetal Lung	lung
3	chr4:78534400-78535000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr4:78534600-78535200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr4:78534800-78535000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:78534800-78535000	Flanking Active TSS	Osteobl	bone
7	chr4:78534800-78535200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:78534800-78535200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:78535000-78535200	Enhancers	Adipose Nuclei	Adipose
10	chr4:78535000-78535200	Enhancers	Left Ventricle	heart
11	chr4:78535000-78535200	Enhancers	Osteobl	bone
12	chr4:78535200-78539600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:78535200-78539800	Weak transcription	Left Ventricle	heart
14	chr4:78535200-78539800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:78536400-78536800	Active TSS	GM12878-XiMat	blood
16	chr4:78538400-78538600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:78538400-78538600	Enhancers	HMEC	breast
18	chr4:78538400-78540200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:78538600-78539600	Weak transcription	HMEC	breast
20	chr4:78539600-78540000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:78539600-78540000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:78539600-78540000	Enhancers	Brain Hippocampus Middle	brain
23	chr4:78539600-78540200	Enhancers	HMEC	breast
24	chr4:78539600-78540400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr4:78539800-78540000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:78539800-78540000	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:78539800-78540200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:78539800-78540200	Enhancers	Primary hematopoietic stem cells	blood
29	chr4:78539800-78540200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr4:78539800-78540200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:78539800-78540200	Enhancers	Duodenum Mucosa	Duodenum
32	chr4:78539800-78540200	Enhancers	Esophagus	oesophagus
33	chr4:78539800-78540200	Enhancers	Left Ventricle	heart
34	chr4:78539800-78540200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr4:78539800-78540200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr4:78539800-78540400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:78539800-78540400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr4:78539800-78540400	Enhancers	HSMM	muscle
39	chr4:78539800-78540400	Enhancers	NHEK	skin
40	chr4:78539800-78540600	Enhancers	Brain Substantia Nigra	brain
41	chr4:78539800-78540800	Enhancers	Brain Angular Gyrus	brain
42	chr4:78539800-78540800	Enhancers	Pancreas	Pancrea
43	chr4:78539800-78541200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:78540000-78540200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:78540000-78540200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:78540000-78540200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:78540000-78540200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr4:78540000-78540200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:78540000-78540200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:78540000-78540200	Flanking Active TSS	Adipose Nuclei	Adipose

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