Variant report

Variant	nsv966307
Chromosome Location	chr4:110708883-110721699
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:110719468..110721145-chr4:110726862..110728503,2	K562	blood:
2	chr4:110645601..110647789-chr4:110720633..110722746,2	K562	blood:
3	chr4:110622972..110624478-chr4:110719686..110721705,2	K562	blood:
4	chr4:110715411..110717007-chr4:110731404..110733909,2	K562	blood:
5	chr4:110721548..110724346-chr4:110736767..110738481,2	MCF-7	breast:
6	chr4:110655703..110658317-chr4:110707050..110709224,2	K562	blood:
7	chr4:110693557..110696333-chr4:110710067..110712118,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000109534	chromatin interactions
ENSG00000138794	chromatin interactions

Extended variants
information (count: 529 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140636736	chr4:110709607-110709608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143713197	chr4:110709608-110709609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79901820	chr4:110709657-110709658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540844005	chr4:110709673-110709674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182325821	chr4:110709874-110709875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4600912	chr4:110709879-110709880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543465962	chr4:110709909-110709910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556036440	chr4:110710017-110710018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1000954	chr4:110710034-110710035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs187345927	chr4:110710046-110710047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552355364	chr4:110710063-110710064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6533461	chr4:110710107-110710108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577981681	chr4:110710121-110710122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190807909	chr4:110710137-110710138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547790799	chr4:110710160-110710161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570983102	chr4:110710174-110710175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4371619	chr4:110710176-110710177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574430958	chr4:110710183-110710184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148102928	chr4:110710194-110710195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569854684	chr4:110710198-110710199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535439389	chr4:110710203-110710204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141052455	chr4:110710207-110710208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565760444	chr4:110710270-110710271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114067641	chr4:110710290-110710291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72674894	chr4:110710316-110710317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182040899	chr4:110710342-110710343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185551072	chr4:110710350-110710351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557085331	chr4:110710405-110710406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573814717	chr4:110710435-110710436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542622929	chr4:110710448-110710449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535370498	chr4:110710553-110710554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77706237	chr4:110710579-110710580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201269046	chr4:110710597-110710598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377516836	chr4:110710598-110710599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386401139	chr4:110710600-110710601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528083405	chr4:110710611-110710612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150238347	chr4:110710616-110710617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76045076	chr4:110710617-110710618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189962470	chr4:110710621-110710622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549994883	chr4:110710625-110710626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182481574	chr4:110710678-110710679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138961821	chr4:110710708-110710709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10049804	chr4:110710724-110710725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570156801	chr4:110710820-110710821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565698750	chr4:110710853-110710854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534714003	chr4:110710890-110710891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371418244	chr4:110710980-110710981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143298598	chr4:110710985-110710986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10049638	chr4:110710986-110710987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188495662	chr4:110710990-110710991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110709600-110714400	Weak transcription	HepG2	liver
2	chr4:110712200-110715000	Weak transcription	Liver	Liver
3	chr4:110714400-110715000	Strong transcription	HepG2	liver
4	chr4:110714800-110715000	ZNF genes & repeats	Pancreas	Pancrea
5	chr4:110715000-110715800	Strong transcription	Liver	Liver
6	chr4:110715000-110718800	ZNF genes & repeats	HepG2	liver
7	chr4:110715000-110721200	Weak transcription	Pancreas	Pancrea
8	chr4:110715800-110716200	Weak transcription	Liver	Liver
9	chr4:110716000-110716600	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr4:110716200-110716600	ZNF genes & repeats	Spleen	Spleen
11	chr4:110716200-110716800	ZNF genes & repeats	Liver	Liver
12	chr4:110716600-110717600	Weak transcription	Fetal Intestine Small	intestine
13	chr4:110716800-110717600	Weak transcription	Liver	Liver
14	chr4:110717600-110717800	ZNF genes & repeats	Ovary	ovary
15	chr4:110717600-110718000	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr4:110717600-110718000	Active TSS	Right Atrium	heart
17	chr4:110717600-110718400	ZNF genes & repeats	Liver	Liver
18	chr4:110717800-110718000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:110717800-110718200	Weak transcription	Lung	lung
20	chr4:110717800-110721600	Weak transcription	Ovary	ovary
21	chr4:110718400-110719200	Weak transcription	Liver	Liver
22	chr4:110718800-110719800	Weak transcription	HepG2	liver
23	chr4:110719000-110720200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:110719200-110719400	ZNF genes & repeats	Liver	Liver
25	chr4:110719400-110720200	Weak transcription	Liver	Liver
26	chr4:110719800-110720200	Genic enhancers	HepG2	liver
27	chr4:110720200-110720400	Transcr. at gene 5' and 3'	HepG2	liver
28	chr4:110720200-110721400	Flanking Active TSS	Liver	Liver
29	chr4:110720200-110722200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr4:110720400-110721400	Flanking Active TSS	HepG2	liver
31	chr4:110721000-110721600	Enhancers	Fetal Intestine Small	intestine
32	chr4:110721200-110721800	Enhancers	Pancreas	Pancrea
33	chr4:110721400-110721600	Active TSS	HepG2	liver
34	chr4:110721400-110723600	Active TSS	Liver	Liver
35	chr4:110721600-110721800	Flanking Active TSS	Ovary	ovary
36	chr4:110721600-110721800	Flanking Active TSS	HepG2	liver
37	chr4:110721600-110722000	Enhancers	Right Ventricle	heart
38	chr4:110721600-110723400	Active TSS	Fetal Intestine Large	intestine
39	chr4:110721600-110723400	Active TSS	Fetal Intestine Small	intestine
40	chr4:110721600-110723400	Active TSS	Right Atrium	heart

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