Variant report

Variant	nsv880023
Chromosome Location	chr4:133216564-133289007
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:133246638..133249812-chr4:133265864..133268563,3	K562	blood:
2	chr4:133263144..133265552-chr4:133295032..133296835,2	K562	blood:
3	chr4:133254539..133258188-chr4:133265340..133266888,3	K562	blood:
4	chr4:133254539..133258188-chr4:133265340..133266888,3	K562	blood:
5	chr4:133264521..133268108-chr4:133268991..133272057,6	K562	blood:
6	chr4:133246638..133249812-chr4:133265864..133268563,3	K562	blood:
7	chr4:133265507..133268108-chr4:133268991..133271558,3	K562	blood:
8	chr4:133265507..133268108-chr4:133268991..133271558,3	K562	blood:
9	chr4:133264521..133268108-chr4:133268991..133272057,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-62N21.1.1-11	chr4:133288941-133289634	NONHSAT098333

No data

Extended variants
information (count: 904 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:904 , 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	rs563936220	chr4:133217622-133217623	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539094000	chr4:133217625-133217626	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556112109	chr4:133217644-133217645	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570010560	chr4:133217716-133217717	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116631482	chr4:133217717-133217718	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555618288	chr4:133217726-133217727	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572243758	chr4:133217735-133217736	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541201048	chr4:133217741-133217742	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146403047	chr4:133217747-133217748	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578042728	chr4:133217759-133217760	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543500344	chr4:133217765-133217766	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563297196	chr4:133217771-133217772	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370711340	chr4:133217785-133217786	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139766279	chr4:133217795-133217796	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542876884	chr4:133217814-133217815	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144478770	chr4:133217818-133217819	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114309013	chr4:133217834-133217835	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150588504	chr4:133217878-133217879	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372881127	chr4:133217879-133217880	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551934821	chr4:133217899-133217900	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116413910	chr4:133217920-133217921	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533041379	chr4:133217935-133217936	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549512474	chr4:133217969-133217970	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569628467	chr4:133218003-133218004	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540041837	chr4:133218018-133218019	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181601241	chr4:133218092-133218093	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78700791	chr4:133218120-133218121	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184124021	chr4:133218123-133218124	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376196395	chr4:133218131-133218132	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534555679	chr4:133218187-133218188	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557932135	chr4:133218267-133218268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534040470	chr4:133218282-133218283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs578037912	chr4:133218297-133218298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188327337	chr4:133218425-133218426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374576629	chr4:133218453-133218454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536203485	chr4:133218495-133218496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556954011	chr4:133218539-133218540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12108519	chr4:133218572-133218573	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76384242	chr4:133218584-133218585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76177223	chr4:133218606-133218607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74879228	chr4:133218611-133218612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181822447	chr4:133218652-133218653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374328538	chr4:133218659-133218660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545323727	chr4:133218690-133218691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575624590	chr4:133218789-133218790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565429717	chr4:133218820-133218821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532894212	chr4:133218839-133218840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549875758	chr4:133218842-133218843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114727003	chr4:133218884-133218885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528931112	chr4:133218924-133218925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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
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
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
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
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133217600-133218200	Active TSS	Primary B cells from cord blood	blood
2	chr4:133217600-133219200	Enhancers	Fetal Lung	lung
3	chr4:133217800-133218200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:133218200-133218800	Weak transcription	Primary B cells from cord blood	blood
5	chr4:133218200-133221000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:133218400-133218800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:133218400-133219000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:133218800-133219600	Enhancers	Primary B cells from cord blood	blood
9	chr4:133219200-133220600	Weak transcription	Fetal Lung	lung
10	chr4:133220600-133221600	Enhancers	Fetal Lung	lung
11	chr4:133221000-133221400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:133221600-133222400	Weak transcription	Fetal Lung	lung
13	chr4:133222400-133222600	Enhancers	Fetal Lung	lung
14	chr4:133222600-133224800	Weak transcription	Fetal Lung	lung
15	chr4:133224800-133225000	Enhancers	Fetal Lung	lung
16	chr4:133234400-133235400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:133235000-133235400	Enhancers	Brain Anterior Caudate	brain
18	chr4:133236800-133237000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:133237000-133237200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:133242200-133242400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr4:133254000-133255200	Enhancers	NHLF	lung
22	chr4:133254400-133255600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:133254800-133255600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:133254800-133255600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:133265000-133265200	Enhancers	Hela-S3	cervix
26	chr4:133265200-133265400	Enhancers	Placenta	Placenta
27	chr4:133265200-133265600	Flanking Active TSS	Hela-S3	cervix
28	chr4:133265200-133267200	Active TSS	K562	blood
29	chr4:133265400-133265600	Flanking Active TSS	Placenta	Placenta
30	chr4:133265600-133267000	Active TSS	Placenta	Placenta
31	chr4:133265600-133267000	Active TSS	Hela-S3	cervix
32	chr4:133266200-133266600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr4:133266400-133266600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:133269200-133270400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:133276000-133276600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:133276400-133276600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:133276600-133282200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:133282200-133282400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:133285200-133285800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:133287000-133287400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr4:133287200-133288000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr4:133287200-133288000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
43	chr4:133287200-133288000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:133287400-133287800	ZNF genes & repeats	Dnd41	blood
45	chr4:133288000-133289000	Weak transcription	H9 Cell Line	embryonic stem cell

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