Variant report

Variant	nsv886003
Chromosome Location	chr6:65278124-65366564
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:138)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:138 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:65290228-65290658	MCF-7	breast:	n/a	chr6:65290468-65290479
2	CEBPB	chr6:65290278-65290627	K562	blood:	n/a	chr6:65290468-65290479
3	CEBPB	chr6:65290213-65290636	IMR90	lung:	n/a	chr6:65290468-65290479
4	CEBPB	chr6:65285162-65285438	Hela-S3	cervix:	n/a	chr6:65285295-65285308 chr6:65285295-65285306 chr6:65285295-65285308 chr6:65285297-65285308
5	CEBPB	chr6:65290221-65290640	HepG2	liver:	n/a	chr6:65290468-65290479
6	CEBPB	chr6:65290300-65290596	H1-hESC	embryonic stem cell:	n/a	chr6:65290468-65290479
7	CEBPB	chr6:65290174-65290662	Hela-S3	cervix:	n/a	chr6:65290468-65290479
8	CEBPB	chr6:65285213-65285458	HepG2	liver:	n/a	chr6:65285295-65285308 chr6:65285295-65285306 chr6:65285295-65285308 chr6:65285297-65285308
9	CEBPB	chr6:65290267-65290534	A549	lung:	n/a	chr6:65290468-65290479
10	CTCF	chr6:65278420-65278570	HEK293	kidney:	n/a	n/a
11	CTCF	chr6:65341219-65341263	GM20000	blood:	n/a	n/a
12	CTCF	chr6:65278530-65278638	GM13976	blood:	n/a	n/a
13	CTCF	chr6:65297559-65297611	GM20000	blood:	n/a	n/a
14	CTCF	chr6:65278460-65278610	GM12865	blood:	n/a	n/a
15	CTCF	chr6:65278557-65278624	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:65278520-65278670	HepG2	liver:	n/a	n/a
17	CTCF	chr6:65351061-65351093	GM13977	blood:	n/a	n/a
18	CTCF	chr6:65278552-65278650	HepG2	liver:	n/a	n/a
19	CTCF	chr6:65278514-65278630	Gliobla	brain:	n/a	n/a
20	CTCF	chr6:65278545-65278601	MCF-7	breast:	n/a	n/a
21	CTCF	chr6:65278552-65278615	MCF-7	breast:	n/a	n/a
22	CTCF	chr6:65340961-65341007	Kidney_OC	kidney:	n/a	n/a
23	E2F4	chr6:65290202-65290653	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr6:65356772-65356973	MCF10A-Er-Src	breast:	n/a	n/a
25	EP300	chr6:65313615-65313687	GM12878	blood:	n/a	n/a
26	EP300	chr6:65290220-65290625	Hela-S3	cervix:	n/a	chr6:65290465-65290479
27	FAM48A	chr6:65317527-65317659	GM12878	blood:	n/a	n/a
28	FOS	chr6:65354041-65354187	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr6:65290147-65290639	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr6:65290225-65290650	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr6:65290144-65290645	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr6:65289797-65290707	MCF10A-Er-Src	breast:	n/a	n/a
33	GATA2	chr6:65357944-65358231	SH-SY5Y	brain:	n/a	chr6:65358045-65358059
34	GATA2	chr6:65358013-65358236	HUVEC	blood vessel:	n/a	chr6:65358045-65358059
35	GATA3	chr6:65357949-65358233	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr6:65357832-65358284	MCF-7	breast:	n/a	n/a
37	GATA3	chr6:65313480-65313544	SH-SY5Y	brain:	n/a	n/a
38	IRF1	chr6:65325183-65325250	K562	blood:	n/a	n/a
39	JUN	chr6:65286518-65286559	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUN	chr6:65290305-65290552	HepG2	liver:	n/a	chr6:65290465-65290478
41	JUN	chr6:65290245-65290612	Hela-S3	cervix:	n/a	chr6:65290465-65290478
42	JUN	chr6:65315492-65315639	HepG2	liver:	n/a	chr6:65315536-65315545 chr6:65315536-65315543 chr6:65315539-65315547
43	JUND	chr6:65353953-65354297	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUND	chr6:65290215-65290633	Hela-S3	cervix:	n/a	n/a
45	JUND	chr6:65353976-65354223	HepG2	liver:	n/a	n/a
46	JUND	chr6:65290324-65290545	HepG2	liver:	n/a	n/a
47	JUND	chr6:65336292-65336538	HepG2	liver:	n/a	n/a
48	JUND	chr6:65315504-65315723	HepG2	liver:	n/a	chr6:65315536-65315545 chr6:65315536-65315543 chr6:65315539-65315547 chr6:65315534-65315545
49	MAFF	chr6:65332874-65333181	HepG2	liver:	n/a	n/a
50	MAFF	chr6:65359204-65359225	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:65341479-65341529	AG04450	lung:	fetal
2	chr6:65341479-65341529	CMK	blood:	n/a
3	chr6:65341479-65341529	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:65341479-65341529	HRCEpiC	kidney:	n/a
5	chr6:65341479-65341529	SK-N-SH	brain:	n/a
6	chr6:65341479-65341529	NB4	blood:	n/a
7	chr6:65341479-65341529	SK-N-SH_RA	brain:	n/a
8	chr6:65341479-65341529	HEK293	kidney:	embryo
9	chr6:65341479-65341529	HCPEpiC	choroid plexus:	n/a
10	chr6:65341479-65341529	LNCaP	prostate:	n/a
11	chr6:65341479-65341529	GM19239	blood:	n/a
12	chr6:65341479-65341529	MCF10A-Er-Src	breast:	n/a
13	chr6:65341479-65341529	GM06990	blood:	n/a
14	chr6:65341479-65341529	ovcar-3	ovarian:	n/a
15	chr6:65341479-65341529	BJ	skin:	n/a
16	chr6:65341479-65341529	PFSK-1	brain:	n/a
17	chr6:65341479-65341529	IMR90	lung:	fetal
18	chr6:65341479-65341529	HepG2	liver:	n/a
19	chr6:65341479-65341529	HRE	kidney:	n/a
20	chr6:65341479-65341529	NHDF-neo	bronchial:	n/a
21	chr6:65341479-65341529	HL-60	blood:	n/a
22	chr6:65341479-65341529	NH-A	brain:	n/a
23	chr6:65341479-65341529	AG09309	skin:	n/a
24	chr6:65341479-65341529	Caco-2	colon:	n/a
25	chr6:65341479-65341529	SAEC	small airway:	n/a
26	chr6:65341479-65341529	AoSMC	blood vessel:	n/a
27	chr6:65341479-65341529	HAEpiC	amniotic membrane:	n/a
28	chr6:65341479-65341529	PANC-1	pancreas:	n/a
29	chr6:65341479-65341529	GM12891	blood:	n/a
30	chr6:65341479-65341529	H1-hESC	embryonic stem cell:	embryo
31	chr6:65341479-65341529	HUVEC	blood vessel:	n/a
32	chr6:65341479-65341529	ProgFib	skin:	n/a
33	chr6:65341479-65341529	A549	lung:	n/a
34	chr6:65341479-65341529	T-47D	breast:	n/a
35	chr6:65341479-65341529	NHBE	bronchial:	n/a
36	chr6:65341479-65341529	K562	blood:	n/a
37	chr6:65341479-65341529	NT2-D1	testis:	n/a
38	chr6:65341479-65341529	ECC-1	luminal epithelium:	n/a
39	chr6:65341479-65341529	HCF	heart:	n/a
40	chr6:65341479-65341529	HNPCEpiC	eye:	n/a
41	chr6:65341479-65341529	GM12878	blood:	n/a
42	chr6:65341479-65341529	AG09319	gingival:	n/a
43	chr6:65341479-65341529	HMEC	breast:	n/a
44	chr6:65341479-65341529	HEEpiC	esophagus:	n/a
45	chr6:65341479-65341529	BE2_C	brain:	n/a
46	chr6:65341479-65341529	HRPEpiC	eye:	n/a
47	chr6:65341479-65341529	Jurkat	blood:	n/a
48	chr6:65341479-65341529	HCT-116	colon:	n/a
49	chr6:65341479-65341529	Hela-S3	cervix:	n/a
50	chr6:65341479-65341529	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:65294576..65297046-chr6:65300065..65301851,2	K562	blood:
2	chr6:65277767..65280603-chr6:65309612..65311226,2	K562	blood:
3	chr6:65287761..65289568-chr6:65291145..65293984,2	K562	blood:
4	chr6:65294576..65297046-chr6:65300065..65301851,2	K562	blood:
5	chr6:65287761..65289568-chr6:65291145..65293984,2	K562	blood:
6	chr6:65277767..65280603-chr6:65309612..65311226,2	K562	blood:
7	chr4:77961296..77963315-chr6:65321821..65324024,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGSN-4	chr6:65341098-65341575	NONHSAT113364
2	lnc-LGSN-5	chr6:65303024-65303202	NONHSAT113363
3	lnc-LGSN-5	chr6:65327311-65327426	NONHSAT113363
4	lnc-LGSN-5	chr6:65336014-65336138	NONHSAT113363

No data

Variant related genes	Relation type
HNRNPDP2	TF binding region
HNRNPDP2	CpG island

Extended variants
information (count: 866 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:866 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569313516	chr6:65278482-65278483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs536608631	chr6:65278520-65278521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs185523705	chr6:65278549-65278550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191300609	chr6:65278641-65278642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs571604809	chr6:65278733-65278734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538876429	chr6:65278754-65278755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs554329584	chr6:65278784-65278785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs182680963	chr6:65278791-65278792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs372096721	chr6:65287628-65287629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531826748	chr6:65287659-65287660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555408246	chr6:65287673-65287674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190009884	chr6:65287683-65287684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182310569	chr6:65287701-65287702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186621203	chr6:65287791-65287792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140945192	chr6:65287805-65287806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376646035	chr6:65287849-65287850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76557426	chr6:65287875-65287876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62415801	chr6:65287924-65287925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540280491	chr6:65287939-65287940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376594929	chr6:65288051-65288052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561765749	chr6:65288235-65288236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34939161	chr6:65288251-65288252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76072765	chr6:65288289-65288290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75956749	chr6:65288308-65288309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149734846	chr6:65288309-65288310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79189087	chr6:65288405-65288406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551566002	chr6:65288457-65288458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79192892	chr6:65288474-65288475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576336026	chr6:65288491-65288492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533897293	chr6:65288492-65288493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555467732	chr6:65288502-65288503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200514413	chr6:65288509-65288510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201926106	chr6:65288511-65288512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200436993	chr6:65288514-65288515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567306397	chr6:65288516-65288517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537819928	chr6:65288521-65288522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192686387	chr6:65288552-65288553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575884058	chr6:65288554-65288555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185693796	chr6:65288574-65288575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114792624	chr6:65288581-65288582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573070594	chr6:65288656-65288657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541604183	chr6:65288678-65288679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17217924	chr6:65288688-65288689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373212367	chr6:65288725-65288726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188644831	chr6:65288733-65288734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538014693	chr6:65288734-65288735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114377981	chr6:65288760-65288761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562700830	chr6:65288763-65288764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78708763	chr6:65288776-65288777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551361547	chr6:65288818-65288819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65278400-65278800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:65287600-65288600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:65288200-65288600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:65288600-65291600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:65288600-65291600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:65290200-65290800	Enhancers	NHEK	skin
7	chr6:65291600-65293400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:65291600-65293800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:65295800-65298400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:65298400-65298600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:65298600-65299800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:65299800-65300400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:65299800-65300400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:65300000-65300400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:65301400-65301800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:65305400-65309400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr6:65326000-65327000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:65328400-65328800	Enhancers	Fetal Lung	lung
19	chr6:65329600-65330000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr6:65340600-65341600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:65340800-65341200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:65340800-65341400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:65341000-65341400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:65341200-65341600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:65356000-65356800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:65356800-65358000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:65358200-65358400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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