Variant report

Variant	nsv980280
Chromosome Location	chr4:187348531-187351573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr4:187348852-187349677	HepG2	liver:	n/a	n/a
2	MYC	chr4:187349363-187349629	H1-hESC	embryonic stem cell:	n/a	n/a
3	PAX5	chr4:187348774-187349849	GM12878	blood:	n/a	n/a
4	POU2F2	chr4:187349301-187349597	GM12878	blood:	n/a	n/a
5	REST	chr4:187348840-187349708	PANC-1	pancreas:	n/a	n/a
6	TAF1	chr4:187348830-187349740	HepG2	liver:	n/a	n/a
7	USF1	chr4:187349488-187349618	HepG2	liver:	n/a	n/a
8	USF1	chr4:187349213-187349329	HepG2	liver:	n/a	n/a
9	ZBTB33	chr4:187349234-187349519	GM12878	blood:	n/a	n/a
10	ZBTB33	chr4:187348899-187349284	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:187349131-187349181	HRCEpiC	kidney:	n/a
2	chr4:187349714-187349764	PANC-1	pancreas:	n/a
3	chr4:187349131-187349181	PFSK-1	brain:	n/a
4	chr4:187349714-187349764	NHBE	bronchial:	n/a
5	chr4:187349131-187349181	GM06990	blood:	n/a
6	chr4:187349665-187349715	GM19239	blood:	n/a
7	chr4:187349714-187349764	HEEpiC	esophagus:	n/a
8	chr4:187349131-187349181	HCF	heart:	n/a
9	chr4:187349714-187349764	Hepatocyte	liver:	n/a
10	chr4:187349131-187349181	HepG2	liver:	n/a
11	chr4:187349714-187349764	ECC-1	luminal epithelium:	n/a
12	chr4:187349714-187349764	GM06990	blood:	n/a
13	chr4:187349714-187349764	CMK	blood:	n/a
14	chr4:187349714-187349764	Caco-2	colon:	n/a
15	chr4:187349131-187349181	AG04450	lung:	fetal
16	chr4:187349665-187349715	ECC-1	luminal epithelium:	n/a
17	chr4:187349131-187349181	GM12892	blood:	n/a
18	chr4:187349665-187349715	BE2_C	brain:	n/a
19	chr4:187349131-187349181	PANC-1	pancreas:	n/a
20	chr4:187349131-187349181	HAEpiC	amniotic membrane:	n/a
21	chr4:187349131-187349181	HEEpiC	esophagus:	n/a
22	chr4:187349131-187349181	SK-N-SH_RA	brain:	n/a
23	chr4:187349665-187349715	GM12878	blood:	n/a
24	chr4:187349131-187349181	ovcar-3	ovarian:	n/a
25	chr4:187349714-187349764	Jurkat	blood:	n/a
26	chr4:187349665-187349715	HUVEC	blood vessel:	n/a
27	chr4:187349665-187349715	SK-N-SH_RA	brain:	n/a
28	chr4:187349714-187349764	HRCEpiC	kidney:	n/a
29	chr4:187349714-187349764	AG04449	skin:	fetal
30	chr4:187349714-187349764	RPTEC	kidney:	n/a
31	chr4:187349131-187349181	HEK293	kidney:	embryo
32	chr4:187349665-187349715	SK-N-MC	brain:	n/a
33	chr4:187349131-187349181	ECC-1	luminal epithelium:	n/a
34	chr4:187349131-187349181	AG09309	skin:	n/a
35	chr4:187349665-187349715	NHDF-neo	bronchial:	n/a
36	chr4:187349131-187349181	HUVEC	blood vessel:	n/a
37	chr4:187349131-187349181	H1-hESC	embryonic stem cell:	embryo
38	chr4:187349665-187349715	AG09309	skin:	n/a
39	chr4:187349665-187349715	ovcar-3	ovarian:	n/a
40	chr4:187349665-187349715	HRE	kidney:	n/a
41	chr4:187349714-187349764	HCM	heart:	n/a
42	chr4:187349131-187349181	BE2_C	brain:	n/a
43	chr4:187349665-187349715	HCPEpiC	choroid plexus:	n/a
44	chr4:187349714-187349764	HCT-116	colon:	n/a
45	chr4:187349131-187349181	ProgFib	skin:	n/a
46	chr4:187349131-187349181	NHDF-neo	bronchial:	n/a
47	chr4:187349714-187349764	H1-hESC	embryonic stem cell:	embryo
48	chr4:187349714-187349764	GM12878	blood:	n/a
49	chr4:187349665-187349715	NHBE	bronchial:	n/a
50	chr4:187349665-187349715	HL-60	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTNR1A-1	chr4:187349859-187350004	ENSG00000251165.1

No data

Variant related genes	Relation type
F11-AS1	TF binding region
F11-AS1	CpG island

Extended variants
information (count: 183 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115106500	chr4:187348531-187348532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6845403	chr4:187348537-187348538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs144566094	chr4:187348560-187348561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78191402	chr4:187348570-187348571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556304741	chr4:187348571-187348572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188249924	chr4:187348587-187348588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181086555	chr4:187348590-187348591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150977878	chr4:187348607-187348608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184118869	chr4:187348609-187348610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540236855	chr4:187348615-187348616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77358549	chr4:187348646-187348647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577258938	chr4:187348691-187348692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73873605	chr4:187348838-187348839	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs189909299	chr4:187348847-187348848	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs182135793	chr4:187348866-187348867	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs548832109	chr4:187348877-187348878	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs73873606	chr4:187348883-187348884	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375369070	chr4:187348888-187348889	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs186785714	chr4:187348903-187348904	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs62351367	chr4:187348929-187348930	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs368419327	chr4:187348938-187348939	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs62351368	chr4:187348960-187348961	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs111438709	chr4:187348977-187348978	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs62351369	chr4:187348984-187348985	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs62351370	chr4:187348992-187348993	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs113223115	chr4:187349010-187349011	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs35382388	chr4:187349033-187349034	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs570493700	chr4:187349034-187349035	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs71624783	chr4:187349035-187349036	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs113803785	chr4:187349058-187349059	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs62351371	chr4:187349059-187349060	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs71244943	chr4:187349079-187349080	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs376256830	chr4:187349082-187349083	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs112976654	chr4:187349083-187349084	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs113883859	chr4:187349106-187349107	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs533021235	chr4:187349111-187349112	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs549631283	chr4:187349127-187349128	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs112355198	chr4:187349131-187349132	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs62351372	chr4:187349133-187349134	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs71598518	chr4:187349152-187349153	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs569798105	chr4:187349155-187349156	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs62351373	chr4:187349159-187349160	Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs62351374	chr4:187349180-187349181	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs66966535	chr4:187349198-187349199	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs565635199	chr4:187349219-187349220	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs377457721	chr4:187349223-187349224	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs62351375	chr4:187349225-187349226	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs113515028	chr4:187349229-187349230	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs76387381	chr4:187349230-187349231	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs370283709	chr4:187349248-187349249	Weak transcription	TF binding region	1 gene(s)	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
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
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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187347200-187353200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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