Variant report

Variant	nsv1014618
Chromosome Location	chr4:124350676-124391697
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:124381466..124384700-chr4:124385478..124387140,3	K562	blood:
2	chr4:124381466..124384700-chr4:124385478..124387140,3	K562	blood:
3	chr4:124384182..124386776-chr4:124387897..124390106,2	K562	blood:
4	chr4:124312152..124314959-chr4:124365213..124367146,2	K562	blood:
5	chr4:124386707..124390033-chr4:124393146..124396206,4	K562	blood:
6	chr4:124384973..124386979-chr4:124398661..124400442,2	MCF-7	breast:
7	chr4:124355456..124357257-chr4:124359703..124361861,2	MCF-7	breast:
8	chr4:124391182..124393598-chr4:124402395..124406116,3	K562	blood:
9	chr4:124387178..124390314-chr4:124393146..124396111,3	K562	blood:
10	chr4:124342626..124344275-chr4:124363247..124365507,2	K562	blood:
11	chr4:124384182..124386776-chr4:124387897..124390106,2	K562	blood:
12	chr4:124343091..124345315-chr4:124349743..124351770,2	K562	blood:
13	chr4:124355456..124357257-chr4:124359703..124361861,2	MCF-7	breast:
14	chr18:32869888..32870728-chr4:124365086..124365822,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000186814	chromatin interactions
ENSG00000268573	chromatin interactions
ENSG00000257267	chromatin interactions

Extended variants
information (count: 1414 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1414 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74635444	chr4:124350716-124350717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532381830	chr4:124350734-124350735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183808476	chr4:124350753-124350754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189926520	chr4:124350794-124350795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564126500	chr4:124350829-124350830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138488548	chr4:124350850-124350851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180808456	chr4:124350851-124350852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149604651	chr4:124350932-124350933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184595449	chr4:124350933-124350934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200070971	chr4:124350935-124350936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566259906	chr4:124350946-124350947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528978479	chr4:124350947-124350948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554430748	chr4:124351021-124351022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529314237	chr4:124351117-124351118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550488950	chr4:124351167-124351168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570149533	chr4:124351173-124351174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568844677	chr4:124351247-124351248	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72684652	chr4:124351315-124351316	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575852037	chr4:124351381-124351382	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs36102330	chr4:124351398-124351399	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539227202	chr4:124351438-124351439	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558743915	chr4:124351455-124351456	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144340915	chr4:124351485-124351486	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534988024	chr4:124351492-124351493	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554981453	chr4:124351503-124351504	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58406081	chr4:124351521-124351522	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543736642	chr4:124351545-124351546	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571732090	chr4:124351559-124351560	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534421318	chr4:124351595-124351596	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557223464	chr4:124351609-124351610	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13115225	chr4:124351619-124351620	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13142090	chr4:124351622-124351623	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13142108	chr4:124351647-124351648	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13115241	chr4:124351648-124351649	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7693362	chr4:124351731-124351732	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs58163698	chr4:124351738-124351739	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148740480	chr4:124351786-124351787	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375306148	chr4:124351795-124351796	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113646621	chr4:124351813-124351814	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541558053	chr4:124351815-124351816	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142367709	chr4:124351852-124351853	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530471785	chr4:124351941-124351942	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550161700	chr4:124351982-124351983	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543149741	chr4:124352021-124352022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564020498	chr4:124352035-124352036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144141667	chr4:124352037-124352038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73847722	chr4:124352039-124352040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376723287	chr4:124352055-124352056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190375072	chr4:124352145-124352146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377001721	chr4:124352260-124352261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:516 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124349600-124351600	Weak transcription	HepG2	liver
2	chr4:124350400-124352000	Enhancers	K562	blood
3	chr4:124351200-124351600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:124351200-124351600	Enhancers	Stomach Mucosa	stomach
5	chr4:124351200-124351800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:124351200-124352400	Enhancers	Duodenum Mucosa	Duodenum
7	chr4:124351200-124352400	Enhancers	Fetal Intestine Large	intestine
8	chr4:124351400-124351600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:124351400-124352600	Enhancers	Fetal Intestine Small	intestine
10	chr4:124351600-124352400	Enhancers	HepG2	liver
11	chr4:124351600-124356400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:124351800-124352000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:124352000-124352400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:124354600-124354800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr4:124354800-124355000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr4:124354800-124355200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:124354800-124355600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:124354800-124355600	Enhancers	Psoas Muscle	Psoas
19	chr4:124354800-124355600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr4:124355000-124355800	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr4:124355200-124356400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:124355600-124357400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:124355800-124357400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:124355800-124365400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:124356400-124356600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:124356400-124357400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr4:124356400-124357400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:124356400-124357400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:124356400-124357600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
30	chr4:124356400-124357800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:124357200-124357800	Enhancers	Lung	lung
32	chr4:124357400-124357800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:124357400-124357800	Enhancers	Pancreas	Pancrea
34	chr4:124357400-124357800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr4:124357400-124359200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:124357600-124358000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:124357800-124359200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:124357800-124360000	Weak transcription	Lung	lung
39	chr4:124357800-124364000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:124357800-124365000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr4:124359000-124359400	Enhancers	Fetal Heart	heart
42	chr4:124359000-124359600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr4:124359000-124359800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:124359000-124359800	Enhancers	Adipose Nuclei	Adipose
45	chr4:124359000-124359800	Enhancers	Fetal Lung	lung
46	chr4:124359000-124359800	Enhancers	Stomach Mucosa	stomach
47	chr4:124359200-124359600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:124359200-124359600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:124359200-124359600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:124359200-124359600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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