Variant report

Variant	nsv964299
Chromosome Location	chr4:84490085-84499608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:84456699..84458274-chr4:84494162..84496351,2	MCF-7	breast:
2	chr4:84498347..84499871-chr4:84502515..84505329,2	K562	blood:
3	chr16:67570341..67570842-chr4:84490169..84490669,2	NB4	blood:
4	chr4:84471821..84473601-chr4:84489312..84491517,2	MCF-7	breast:
5	chr4:84498263..84499871-chr4:84502131..84504015,2	K562	blood:

Variant related genes	Relation type
ENSG00000138678	chromatin interactions

Extended variants
information (count: 330 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62305336	chr4:84490190-84490191	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557741235	chr4:84490192-84490193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557224022	chr4:84490204-84490205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs112063317	chr4:84490256-84490257	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs536597024	chr4:84490325-84490326	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs558641470	chr4:84490340-84490341	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs11730975	chr4:84490348-84490349	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs541107215	chr4:84490353-84490354	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs113827123	chr4:84490412-84490413	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs543262693	chr4:84490415-84490416	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs543447871	chr4:84490437-84490438	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs553234538	chr4:84490457-84490458	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs182791143	chr4:84490511-84490512	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs542183357	chr4:84490522-84490523	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs563532248	chr4:84490524-84490525	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530928119	chr4:84490537-84490538	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs545847509	chr4:84490554-84490555	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs563843375	chr4:84490571-84490572	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs529350964	chr4:84490578-84490579	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs113170631	chr4:84490589-84490590	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs812989	chr4:84490672-84490673	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs561990157	chr4:84490676-84490677	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs139073605	chr4:84490698-84490699	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs72654972	chr4:84490708-84490709	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs550865865	chr4:84490715-84490716	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs113242087	chr4:84490739-84490740	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs537068255	chr4:84490740-84490741	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs148083706	chr4:84490823-84490824	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs570407853	chr4:84490829-84490830	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs141863132	chr4:84490830-84490831	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs191524720	chr4:84490893-84490894	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs528409809	chr4:84490968-84490969	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs56394927	chr4:84491012-84491013	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs114285464	chr4:84491040-84491041	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs150634824	chr4:84491070-84491071	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs546063109	chr4:84491090-84491091	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs28504032	chr4:84491121-84491122	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs371502116	chr4:84491186-84491187	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs534715947	chr4:84491206-84491207	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573186891	chr4:84491214-84491215	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540340834	chr4:84491235-84491236	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143127816	chr4:84491245-84491246	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56208893	chr4:84491307-84491308	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs200260985	chr4:84491359-84491360	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200261105	chr4:84491363-84491364	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79769952	chr4:84491418-84491419	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562729648	chr4:84491421-84491422	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376616088	chr4:84491450-84491451	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533487467	chr4:84491464-84491465	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182669168	chr4:84491574-84491575	Enhancers Flanking Active TSS 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
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
Chronic lymphocytic leukemia	21670202	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

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:84481200-84503200	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:84482800-84490400	Weak transcription	Psoas Muscle	Psoas
3	chr4:84482800-84503400	Weak transcription	Ovary	ovary
4	chr4:84483000-84490600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:84483200-84490600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:84485800-84491000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:84486000-84513000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:84488200-84491400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr4:84488200-84491600	Enhancers	A549	lung
10	chr4:84488600-84516800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:84489400-84490200	Enhancers	Left Ventricle	heart
12	chr4:84489400-84491200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr4:84489400-84503400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:84489800-84490200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr4:84489800-84491200	Enhancers	Adipose Nuclei	Adipose
16	chr4:84489800-84492200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:84489800-84499600	Weak transcription	Fetal Lung	lung
18	chr4:84490000-84490200	Weak transcription	Fetal Heart	heart
19	chr4:84490200-84490600	Weak transcription	Left Ventricle	heart
20	chr4:84490200-84491000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:84490200-84491200	Enhancers	Fetal Heart	heart
22	chr4:84490200-84492200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr4:84490400-84491000	Enhancers	Psoas Muscle	Psoas
24	chr4:84490600-84490800	Enhancers	Left Ventricle	heart
25	chr4:84490600-84491000	Enhancers	Placenta	Placenta
26	chr4:84490600-84491200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:84490600-84491200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr4:84490600-84491400	Enhancers	Right Atrium	heart
29	chr4:84490600-84491600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr4:84490600-84491600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:84490600-84491600	Enhancers	GM12878-XiMat	blood
32	chr4:84490600-84491600	Enhancers	HMEC	breast
33	chr4:84490600-84492000	Enhancers	NHEK	skin
34	chr4:84490600-84492200	Enhancers	Primary B cells from peripheral blood	blood
35	chr4:84490800-84492000	Enhancers	Primary B cells from cord blood	blood
36	chr4:84490800-84502800	Weak transcription	Left Ventricle	heart
37	chr4:84491000-84491400	Weak transcription	Psoas Muscle	Psoas
38	chr4:84491000-84491600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:84491000-84494000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:84491200-84491800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:84491200-84492000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr4:84491200-84494000	Weak transcription	Fetal Heart	heart
43	chr4:84491200-84494600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:84491200-84495200	Weak transcription	Adipose Nuclei	Adipose
45	chr4:84491400-84491600	Enhancers	Psoas Muscle	Psoas
46	chr4:84491400-84491800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr4:84491400-84498000	Weak transcription	Right Atrium	heart
48	chr4:84491600-84494400	Weak transcription	Psoas Muscle	Psoas
49	chr4:84491600-84495200	Weak transcription	A549	lung
50	chr4:84491600-84502800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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