Variant report

Variant	nsv886035
Chromosome Location	chr6:66482647-66571498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:238)
CpG islands
(count:488)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:238 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr6:66528842-66529413	A549	lung:	n/a	n/a
2	CEBPB	chr6:66561620-66562087	MCF-7	breast:	n/a	n/a
3	CEBPB	chr6:66567524-66567835	HepG2	liver:	n/a	chr6:66567667-66567678
4	CEBPB	chr6:66529301-66529561	A549	lung:	n/a	n/a
5	CEBPB	chr6:66545603-66545935	MCF-7	breast:	n/a	n/a
6	CEBPB	chr6:66516355-66516697	HepG2	liver:	n/a	chr6:66516524-66516535
7	CEBPB	chr6:66490661-66490950	H1-hESC	embryonic stem cell:	n/a	chr6:66490776-66490789 chr6:66490777-66490788
8	CEBPB	chr6:66490610-66490962	A549	lung:	n/a	chr6:66490776-66490789 chr6:66490777-66490788
9	CEBPB	chr6:66567639-66567742	K562	blood:	n/a	chr6:66567667-66567678
10	CEBPB	chr6:66490621-66490964	K562	blood:	n/a	chr6:66490776-66490789 chr6:66490777-66490788
11	CEBPB	chr6:66490606-66490975	HepG2	liver:	n/a	chr6:66490776-66490789 chr6:66490777-66490788
12	CEBPB	chr6:66567522-66567838	IMR90	lung:	n/a	chr6:66567667-66567678
13	CEBPB	chr6:66567638-66567691	H1-hESC	embryonic stem cell:	n/a	chr6:66567667-66567678
14	CEBPB	chr6:66567548-66567824	A549	lung:	n/a	chr6:66567667-66567678
15	CEBPB	chr6:66490682-66491041	A549	lung:	n/a	chr6:66490776-66490789 chr6:66490777-66490788
16	CEBPB	chr6:66490602-66490966	IMR90	lung:	n/a	chr6:66490776-66490789 chr6:66490777-66490788
17	CEBPB	chr6:66516368-66516688	IMR90	lung:	n/a	chr6:66516524-66516535
18	CEBPB	chr6:66528925-66529488	A549	lung:	n/a	n/a
19	CEBPB	chr6:66561662-66562163	MCF-7	breast:	n/a	n/a
20	CEBPB	chr6:66516356-66516600	A549	lung:	n/a	chr6:66516524-66516535
21	CHD2	chr6:66486288-66486596	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr6:66486340-66486490	HEK293	kidney:	n/a	n/a
23	CTCF	chr6:66504554-66504853	MCF-7	breast:	n/a	n/a
24	CTCF	chr6:66486395-66486464	LNCaP	prostate:	n/a	n/a
25	CTCF	chr6:66566591-66566618	GM10266	blood:	n/a	n/a
26	CTCF	chr6:66558100-66558139	HepG2	liver:	n/a	n/a
27	CTCF	chr6:66486360-66486510	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr6:66486371-66486495	Gliobla	brain:	n/a	n/a
29	CTCF	chr6:66504680-66504830	MCF-7	breast:	n/a	n/a
30	CTCF	chr6:66486360-66486510	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr6:66504593-66504795	Gliobla	brain:	n/a	n/a
32	CTCF	chr6:66486413-66486472	K562	blood:	n/a	n/a
33	CTCF	chr6:66486380-66486530	BE2_C	brain:	n/a	n/a
34	CTCF	chr6:66558075-66558122	K562	blood:	n/a	n/a
35	CTCF	chr6:66486320-66486470	HepG2	liver:	n/a	n/a
36	CTCF	chr6:66558103-66558117	GM12878	blood:	n/a	n/a
37	CTCF	chr6:66504625-66504814	MCF-7	breast:	n/a	n/a
38	CTCF	chr6:66486361-66486536	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr6:66504556-66504877	GM12878	blood:	n/a	n/a
40	CTCF	chr6:66486325-66486500	HepG2	liver:	n/a	n/a
41	CTCF	chr6:66536340-66536490	GM12869	blood:	n/a	n/a
42	CTCF	chr6:66486360-66486510	HEK293	kidney:	n/a	n/a
43	CTCF	chr6:66486419-66486547	MCF-7	breast:	n/a	n/a
44	CTCF	chr6:66486260-66486410	RPTEC	kidney:	n/a	n/a
45	CTCF	chr6:66558079-66558150	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr6:66486400-66486550	BE2_C	brain:	n/a	n/a
47	CTCF	chr6:66504577-66504789	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr6:66504424-66504900	MCF-7	breast:	n/a	n/a
49	CTCF	chr6:66486296-66486581	GM12878	blood:	n/a	n/a
50	CTCF	chr6:66504547-66504840	MCF-7	breast:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:66493769-66493819	NH-A	brain:	n/a
2	chr6:66496346-66496396	AG10803	skin:	n/a
3	chr6:66498032-66498082	HEK293	kidney:	embryo
4	chr6:66498734-66498784	A549	lung:	n/a
5	chr6:66496346-66496396	HRE	kidney:	n/a
6	chr6:66498032-66498082	Hela-S3	cervix:	n/a
7	chr6:66493769-66493819	GM12891	blood:	n/a
8	chr6:66497746-66497796	NT2-D1	testis:	n/a
9	chr6:66496346-66496396	NHBE	bronchial:	n/a
10	chr6:66497746-66497796	HCT-116	colon:	n/a
11	chr6:66497746-66497796	ProgFib	skin:	n/a
12	chr6:66496346-66496396	HPAEpiC	pulmonary alveolar:	n/a
13	chr6:66496955-66497005	SK-N-MC	brain:	n/a
14	chr6:66497586-66497636	GM12891	blood:	n/a
15	chr6:66496346-66496396	Caco-2	colon:	n/a
16	chr6:66498734-66498784	GM06990	blood:	n/a
17	chr6:66496955-66497005	NT2-D1	testis:	n/a
18	chr6:66496955-66497005	AoSMC	blood vessel:	n/a
19	chr6:66497586-66497636	HL-60	blood:	n/a
20	chr6:66497586-66497636	AG10803	skin:	n/a
21	chr6:66496955-66497005	Hepatocyte	liver:	n/a
22	chr6:66496346-66496396	LNCaP	prostate:	n/a
23	chr6:66498734-66498784	GM12878	blood:	n/a
24	chr6:66496955-66497005	SK-N-SH	brain:	n/a
25	chr6:66493769-66493819	GM06990	blood:	n/a
26	chr6:66496346-66496396	HNPCEpiC	eye:	n/a
27	chr6:66497746-66497796	U87	brain:	n/a
28	chr6:66496955-66497005	MCF-7	breast:	n/a
29	chr6:66493769-66493819	SK-N-SH_RA	brain:	n/a
30	chr6:66497746-66497796	SK-N-SH_RA	brain:	n/a
31	chr6:66493769-66493819	AoSMC	blood vessel:	n/a
32	chr6:66497746-66497796	GM12891	blood:	n/a
33	chr6:66498032-66498082	NB4	blood:	n/a
34	chr6:66498032-66498082	HepG2	liver:	n/a
35	chr6:66497586-66497636	Hela-S3	cervix:	n/a
36	chr6:66498032-66498082	Jurkat	blood:	n/a
37	chr6:66496955-66497005	HRCEpiC	kidney:	n/a
38	chr6:66493769-66493819	AG09319	gingival:	n/a
39	chr6:66498032-66498082	AG04449	skin:	fetal
40	chr6:66493769-66493819	NT2-D1	testis:	n/a
41	chr6:66498032-66498082	HRCEpiC	kidney:	n/a
42	chr6:66496955-66497005	PANC-1	pancreas:	n/a
43	chr6:66497885-66497935	AG04449	skin:	fetal
44	chr6:66497885-66497935	PANC-1	pancreas:	n/a
45	chr6:66497586-66497636	HCF	heart:	n/a
46	chr6:66497586-66497636	CMK	blood:	n/a
47	chr6:66497746-66497796	HCF	heart:	n/a
48	chr6:66497746-66497796	IMR90	lung:	fetal
49	chr6:66493769-66493819	NB4	blood:	n/a
50	chr6:66493769-66493819	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:66515870..66517560-chr6:66518458..66521035,2	MCF-7	breast:
2	chr6:66519719..66521224-chr6:66523574..66525753,2	MCF-7	breast:
3	chr6:66519719..66521224-chr6:66523574..66525753,2	MCF-7	breast:
4	chr6:66515870..66517560-chr6:66518458..66521035,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EYS-3	chr6:66546777-66547055	NONHSAT113376
2	lnc-EYS-3	chr6:66547135-66547298	NONHSAT113376

No data

Variant related genes	Relation type
SLC25A51P1	TF binding region
ADH5P4	TF binding region
SLC25A51P1	CpG island
ADH5P4	CpG island

Extended variants
information (count: 487 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:487 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563070346	chr6:66483824-66483825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531509216	chr6:66483829-66483830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565625160	chr6:66483855-66483856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80046719	chr6:66483863-66483864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563866590	chr6:66483922-66483923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575985240	chr6:66483930-66483931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191149893	chr6:66483963-66483964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546230904	chr6:66484028-66484029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200895943	chr6:66484105-66484106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559905109	chr6:66484190-66484191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529142011	chr6:66484192-66484193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549032989	chr6:66484204-66484205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569001262	chr6:66484212-66484213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538063693	chr6:66484245-66484246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551898974	chr6:66484259-66484260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571808486	chr6:66484282-66484283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372670308	chr6:66484315-66484316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76217503	chr6:66484336-66484337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13202292	chr6:66484359-66484360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182937445	chr6:66484401-66484402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567572508	chr6:66484409-66484410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536916622	chr6:66484439-66484440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556613000	chr6:66484476-66484477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187159504	chr6:66484477-66484478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545244661	chr6:66484509-66484510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190476692	chr6:66484517-66484518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577279454	chr6:66484528-66484529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149371378	chr6:66484539-66484540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560067961	chr6:66484591-66484592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545306696	chr6:66486255-66486256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4710539	chr6:66486267-66486268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368267818	chr6:66486276-66486277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370929951	chr6:66486285-66486286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549425325	chr6:66486337-66486338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199798721	chr6:66486345-66486346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572202874	chr6:66486364-66486365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370811102	chr6:66486428-66486429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187527978	chr6:66486431-66486432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530093913	chr6:66486433-66486434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549886549	chr6:66486487-66486488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146044029	chr6:66486495-66486496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192797155	chr6:66486508-66486509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535234095	chr6:66486539-66486540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2814117	chr6:66486559-66486560	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184158220	chr6:66486560-66486561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116499765	chr6:66486604-66486605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568657828	chr6:66486630-66486631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188695005	chr6:66486632-66486633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12174928	chr6:66486673-66486674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556326878	chr6:66486712-66486713	Enhancers	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
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66483800-66484600	Enhancers	Fetal Heart	heart
2	chr6:66486200-66486400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr6:66486200-66486800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:66486200-66486800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:66496800-66497000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:66497200-66497600	Enhancers	Placenta	Placenta
7	chr6:66497600-66498000	Active TSS	Placenta	Placenta
8	chr6:66500000-66501200	Enhancers	Fetal Stomach	stomach
9	chr6:66500400-66501000	Enhancers	Fetal Lung	lung
10	chr6:66515200-66515600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:66522000-66523000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:66522200-66523000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:66526600-66528600	Enhancers	A549	lung
14	chr6:66528600-66529200	Flanking Active TSS	A549	lung
15	chr6:66529200-66529400	Enhancers	A549	lung
16	chr6:66529400-66529600	Flanking Active TSS	A549	lung
17	chr6:66529600-66530400	Enhancers	A549	lung
18	chr6:66536400-66536800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:66567000-66567400	Active TSS	Primary T cells from cord blood	blood
20	chr6:66567200-66567400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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