Variant report

Variant	nsv462971
Chromosome Location	chr6:65254203-65343466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:141)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:141 , 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	chr6:65290174-65290662	Hela-S3	cervix:	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	chr6:65290267-65290534	A549	lung:	n/a	chr6:65290468-65290479
6	CEBPB	chr6:65290300-65290596	H1-hESC	embryonic stem cell:	n/a	chr6:65290468-65290479
7	CEBPB	chr6:65285213-65285458	HepG2	liver:	n/a	chr6:65285295-65285308 chr6:65285295-65285306 chr6:65285295-65285308 chr6:65285297-65285308
8	CEBPB	chr6:65290213-65290636	IMR90	lung:	n/a	chr6:65290468-65290479
9	CEBPB	chr6:65290221-65290640	HepG2	liver:	n/a	chr6:65290468-65290479
10	CTCF	chr6:65276196-65276356	LNCaP	prostate:	n/a	n/a
11	CTCF	chr6:65278514-65278630	Gliobla	brain:	n/a	n/a
12	CTCF	chr6:65258245-65258274	GM13977	blood:	n/a	n/a
13	CTCF	chr6:65278552-65278615	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:65297559-65297611	GM20000	blood:	n/a	n/a
15	CTCF	chr6:65278420-65278570	HEK293	kidney:	n/a	n/a
16	CTCF	chr6:65340961-65341007	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr6:65276202-65276343	LNCaP	prostate:	n/a	n/a
18	CTCF	chr6:65278530-65278638	GM13976	blood:	n/a	n/a
19	CTCF	chr6:65276222-65276294	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr6:65276231-65276259	MCF-7	breast:	n/a	n/a
21	CTCF	chr6:65276140-65276290	MCF-7	breast:	n/a	n/a
22	CTCF	chr6:65278557-65278624	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:65278460-65278610	GM12865	blood:	n/a	n/a
24	CTCF	chr6:65278545-65278601	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:65269195-65269231	GM19240	blood:	n/a	n/a
26	CTCF	chr6:65278552-65278650	HepG2	liver:	n/a	n/a
27	CTCF	chr6:65341219-65341263	GM20000	blood:	n/a	n/a
28	CTCF	chr6:65278520-65278670	HepG2	liver:	n/a	n/a
29	E2F4	chr6:65290202-65290653	MCF10A-Er-Src	breast:	n/a	n/a
30	EP300	chr6:65290220-65290625	Hela-S3	cervix:	n/a	chr6:65290465-65290479
31	EP300	chr6:65313615-65313687	GM12878	blood:	n/a	n/a
32	EP300	chr6:65263285-65263643	SK-N-SH_RA	brain:	n/a	n/a
33	EP300	chr6:65277081-65277143	K562	blood:	n/a	n/a
34	EP300	chr6:65263254-65263629	SK-N-SH_RA	brain:	n/a	n/a
35	FAM48A	chr6:65317527-65317659	GM12878	blood:	n/a	n/a
36	FOS	chr6:65290144-65290645	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr6:65290225-65290650	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr6:65289797-65290707	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr6:65290147-65290639	MCF10A-Er-Src	breast:	n/a	n/a
40	FOSL2	chr6:65270844-65271025	HepG2	liver:	n/a	n/a
41	GATA3	chr6:65274736-65275174	MCF-7	breast:	n/a	n/a
42	GATA3	chr6:65313480-65313544	SH-SY5Y	brain:	n/a	n/a
43	IRF1	chr6:65325183-65325250	K562	blood:	n/a	n/a
44	JUN	chr6:65290305-65290552	HepG2	liver:	n/a	chr6:65290465-65290478
45	JUN	chr6:65315492-65315639	HepG2	liver:	n/a	chr6:65315536-65315545 chr6:65315536-65315543 chr6:65315539-65315547
46	JUN	chr6:65286518-65286559	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUN	chr6:65290245-65290612	Hela-S3	cervix:	n/a	chr6:65290465-65290478
48	JUND	chr6:65315504-65315723	HepG2	liver:	n/a	chr6:65315536-65315545 chr6:65315536-65315543 chr6:65315539-65315547 chr6:65315534-65315545
49	JUND	chr6:65290215-65290633	Hela-S3	cervix:	n/a	n/a
50	JUND	chr6:65290324-65290545	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	AG04449	skin:	fetal
2	chr6:65341479-65341529	T-47D	breast:	n/a
3	chr6:65341479-65341529	HEEpiC	esophagus:	n/a
4	chr6:65341479-65341529	GM06990	blood:	n/a
5	chr6:65341479-65341529	A549	lung:	n/a
6	chr6:65341479-65341529	HCF	heart:	n/a
7	chr6:65341479-65341529	PrEC	prostate:	n/a
8	chr6:65341479-65341529	Hela-S3	cervix:	n/a
9	chr6:65341479-65341529	Jurkat	blood:	n/a
10	chr6:65341479-65341529	BJ	skin:	n/a
11	chr6:65341479-65341529	AG10803	skin:	n/a
12	chr6:65341479-65341529	MCF10A-Er-Src	breast:	n/a
13	chr6:65341479-65341529	PANC-1	pancreas:	n/a
14	chr6:65341479-65341529	HCM	heart:	n/a
15	chr6:65341479-65341529	HNPCEpiC	eye:	n/a
16	chr6:65341479-65341529	PFSK-1	brain:	n/a
17	chr6:65341479-65341529	ovcar-3	ovarian:	n/a
18	chr6:65341479-65341529	SKMC	muscle:	n/a
19	chr6:65341479-65341529	NHDF-neo	bronchial:	n/a
20	chr6:65341479-65341529	HPAEpiC	pulmonary alveolar:	n/a
21	chr6:65341479-65341529	GM12891	blood:	n/a
22	chr6:65341479-65341529	HMEC	breast:	n/a
23	chr6:65341479-65341529	AoSMC	blood vessel:	n/a
24	chr6:65341479-65341529	GM19239	blood:	n/a
25	chr6:65341479-65341529	HCPEpiC	choroid plexus:	n/a
26	chr6:65341479-65341529	HAEpiC	amniotic membrane:	n/a
27	chr6:65341479-65341529	NT2-D1	testis:	n/a
28	chr6:65341479-65341529	AG04450	lung:	fetal
29	chr6:65341479-65341529	AG09319	gingival:	n/a
30	chr6:65341479-65341529	MCF-7	breast:	n/a
31	chr6:65341479-65341529	HIPEpiC	eye:	n/a
32	chr6:65341479-65341529	RPTEC	kidney:	n/a
33	chr6:65341479-65341529	BE2_C	brain:	n/a
34	chr6:65341479-65341529	GM12878	blood:	n/a
35	chr6:65341479-65341529	Caco-2	colon:	n/a
36	chr6:65341479-65341529	HEK293	kidney:	embryo
37	chr6:65341479-65341529	ProgFib	skin:	n/a
38	chr6:65341479-65341529	HL-60	blood:	n/a
39	chr6:65341479-65341529	NHBE	bronchial:	n/a
40	chr6:65341479-65341529	ECC-1	luminal epithelium:	n/a
41	chr6:65341479-65341529	HRPEpiC	eye:	n/a
42	chr6:65341479-65341529	CMK	blood:	n/a
43	chr6:65341479-65341529	IMR90	lung:	fetal
44	chr6:65341479-65341529	NH-A	brain:	n/a
45	chr6:65341479-65341529	H1-hESC	embryonic stem cell:	embryo
46	chr6:65341479-65341529	LNCaP	prostate:	n/a
47	chr6:65341479-65341529	Hepatocyte	liver:	n/a
48	chr6:65341479-65341529	SK-N-SH	brain:	n/a
49	chr6:65341479-65341529	AG09309	skin:	n/a
50	chr6:65341479-65341529	HRCEpiC	kidney:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:65294576..65297046-chr6:65300065..65301851,2	K562	blood:
2	chr4:77961296..77963315-chr6:65321821..65324024,2	MCF-7	breast:
3	chr6:65277767..65280603-chr6:65309612..65311226,2	K562	blood:
4	chr6:65294576..65297046-chr6:65300065..65301851,2	K562	blood:
5	chr6:65287761..65289568-chr6:65291145..65293984,2	K562	blood:
6	chr6:65287761..65289568-chr6:65291145..65293984,2	K562	blood:
7	chr3:14919049..14919953-chr6:65270014..65270629,2	MCF-7	breast:
8	chr6:65277767..65280603-chr6:65309612..65311226,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 835 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:835 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535748092	chr6:65257622-65257623	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs530238412	chr6:65257628-65257629	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs190273102	chr6:65257633-65257634	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575762930	chr6:65257641-65257642	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548855349	chr6:65257654-65257655	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs555174892	chr6:65257671-65257672	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs182524100	chr6:65257674-65257675	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs368076508	chr6:65257676-65257677	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563735800	chr6:65257680-65257681	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs530948516	chr6:65257684-65257685	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573779684	chr6:65257685-65257686	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs552557109	chr6:65257686-65257687	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs541169721	chr6:65257690-65257691	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs6918550	chr6:65257691-65257692	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565912008	chr6:65257697-65257698	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs534024452	chr6:65257698-65257699	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs186845471	chr6:65257734-65257735	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs137985346	chr6:65257735-65257736	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs36063388	chr6:65257773-65257774	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs191066279	chr6:65257781-65257782	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568567634	chr6:65257782-65257783	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs539058344	chr6:65257783-65257784	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs112547847	chr6:65257803-65257804	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577510562	chr6:65257828-65257829	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs534983072	chr6:65257832-65257833	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs182436640	chr6:65257851-65257852	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs371841844	chr6:65257870-65257871	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs542411881	chr6:65257871-65257872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563774433	chr6:65257884-65257885	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs189146788	chr6:65257885-65257886	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546259962	chr6:65257910-65257911	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs144628018	chr6:65257923-65257924	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532960400	chr6:65257924-65257925	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs528421419	chr6:65257929-65257930	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs546593887	chr6:65257936-65257937	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs193060830	chr6:65257941-65257942	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs114492517	chr6:65257951-65257952	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs117015202	chr6:65257957-65257958	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs115065705	chr6:65257967-65257968	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs545260595	chr6:65257968-65257969	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs566326811	chr6:65257972-65257973	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs533745963	chr6:65257979-65257980	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs369771089	chr6:65257986-65257987	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs59685849	chr6:65262814-65262815	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539417457	chr6:65262815-65262816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78346211	chr6:65262816-65262817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527259595	chr6:65262828-65262829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547339710	chr6:65262829-65262830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116642686	chr6:65262838-65262839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148670250	chr6:65262881-65262882	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65257600-65258000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:65262800-65263600	Enhancers	Fetal Heart	heart
3	chr6:65263200-65263600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:65278400-65278800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:65287600-65288600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:65288200-65288600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:65288600-65291600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:65288600-65291600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:65290200-65290800	Enhancers	NHEK	skin
10	chr6:65291600-65293400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:65291600-65293800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:65295800-65298400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:65298400-65298600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:65298600-65299800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:65299800-65300400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:65299800-65300400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:65300000-65300400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:65301400-65301800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:65305400-65309400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:65326000-65327000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:65328400-65328800	Enhancers	Fetal Lung	lung
22	chr6:65329600-65330000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr6:65340600-65341600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:65340800-65341200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr6:65340800-65341400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:65341000-65341400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:65341200-65341600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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