Variant report

Variant	nsv830673
Chromosome Location	chr6:63833563-63939177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:203)
CpG islands
(count:368)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:203 , 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	BATF	chr6:63934113-63934324	GM12878	blood:	n/a	n/a
2	CBX3	chr6:63913525-63913779	K562	blood:	n/a	n/a
3	CEBPB	chr6:63855226-63855456	HepG2	liver:	n/a	chr6:63855308-63855319
4	CEBPB	chr6:63855172-63855480	H1-hESC	embryonic stem cell:	n/a	chr6:63855308-63855319
5	CEBPB	chr6:63895946-63896205	HepG2	liver:	n/a	chr6:63896069-63896080 chr6:63896030-63896041
6	CEBPB	chr6:63924655-63924850	K562	blood:	n/a	n/a
7	CEBPB	chr6:63925110-63925404	HepG2	liver:	n/a	chr6:63925265-63925274
8	CEBPD	chr6:63924639-63924885	K562	blood:	n/a	n/a
9	CTCF	chr6:63878679-63878689	Medullo	brain:	n/a	n/a
10	CTCF	chr6:63922679-63922828	HepG2	liver:	n/a	n/a
11	CTCF	chr6:63922700-63922810	MCF-7	breast:	n/a	n/a
12	CTCF	chr6:63909607-63909643	Pancreas_OC	pancreas:	n/a	n/a
13	CTCF	chr6:63921716-63921743	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:63922745-63922822	GM19238	blood:	n/a	n/a
15	CTCF	chr6:63922690-63922763	Fibrobl	skin:	n/a	n/a
16	CTCF	chr6:63909575-63909761	GM12878	blood:	n/a	n/a
17	CTCF	chr6:63882840-63882862	LNCaP	prostate:	n/a	n/a
18	CTCF	chr6:63922720-63922870	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr6:63905680-63905830	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr6:63922732-63922811	GM13977	blood:	n/a	n/a
21	CTCF	chr6:63922657-63922850	LNCaP	prostate:	n/a	n/a
22	CTCF	chr6:63922738-63922787	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:63865691-63865780	MCF-7	breast:	n/a	n/a
24	CTCF	chr6:63922700-63922850	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr6:63851067-63851109	GM10266	blood:	n/a	n/a
26	CTCF	chr6:63922640-63922790	A549	lung:	n/a	n/a
27	CTCF	chr6:63922766-63922778	Medullo	brain:	n/a	n/a
28	CTCF	chr6:63865713-63865781	GM20000	blood:	n/a	n/a
29	CTCF	chr6:63922700-63922850	HEK293	kidney:	n/a	n/a
30	CTCF	chr6:63865680-63865776	MCF-7	breast:	n/a	n/a
31	CTCF	chr6:63922581-63922889	LNCaP	prostate:	n/a	n/a
32	CTCF	chr6:63922680-63922830	RPTEC	kidney:	n/a	n/a
33	CTCF	chr6:63922779-63922786	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:63935040-63935190	GM12869	blood:	n/a	n/a
35	CTCF	chr6:63922685-63922757	Gliobla	brain:	n/a	n/a
36	CTCF	chr6:63851011-63851177	LNCaP	prostate:	n/a	n/a
37	CTCF	chr6:63922667-63922790	HepG2	liver:	n/a	n/a
38	CTCF	chr6:63937579-63937645	LNCaP	prostate:	n/a	n/a
39	CTCF	chr6:63878624-63878676	Medullo	brain:	n/a	n/a
40	CTCF	chr6:63922760-63922910	RPTEC	kidney:	n/a	n/a
41	CTCF	chr6:63922737-63922762	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr6:63922700-63922850	GM12878	blood:	n/a	n/a
43	CTCF	chr6:63922695-63922839	GM20000	blood:	n/a	n/a
44	CTCF	chr6:63850995-63851115	LNCaP	prostate:	n/a	n/a
45	CTCF	chr6:63938777-63938853	Fibrobl	skin:	n/a	n/a
46	CTCF	chr6:63922594-63922799	GM12878	blood:	n/a	n/a
47	CTCF	chr6:63865690-63865772	Gliobla	brain:	n/a	n/a
48	E2F4	chr6:63884067-63884288	MCF10A-Er-Src	breast:	n/a	n/a
49	EP300	chr6:63934178-63934375	GM12878	blood:	n/a	n/a
50	EP300	chr6:63910586-63910616	GM12878	blood:	n/a	n/a

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:63873476-63873526	ovcar-3	ovarian:	n/a
2	chr6:63921394-63921444	AG04450	lung:	fetal
3	chr6:63873476-63873526	ovcar-3	ovarian:	n/a
4	chr6:63921394-63921444	AG04450	lung:	fetal
5	chr6:63874234-63874284	H1-hESC	embryonic stem cell:	embryo
6	chr6:63874234-63874284	U87	brain:	n/a
7	chr6:63921394-63921444	A549	lung:	n/a
8	chr6:63873809-63873859	AG10803	skin:	n/a
9	chr6:63921501-63921551	MCF-7	breast:	n/a
10	chr6:63921394-63921444	Hela-S3	cervix:	n/a
11	chr6:63873809-63873859	K562	blood:	n/a
12	chr6:63921458-63921508	SK-N-SH	brain:	n/a
13	chr6:63873809-63873859	AG04449	skin:	fetal
14	chr6:63873809-63873859	HepG2	liver:	n/a
15	chr6:63874234-63874284	AG10803	skin:	n/a
16	chr6:63921501-63921551	MCF10A-Er-Src	breast:	n/a
17	chr6:63921394-63921444	AG09319	gingival:	n/a
18	chr6:63921501-63921551	SK-N-SH_RA	brain:	n/a
19	chr6:63873809-63873859	NH-A	brain:	n/a
20	chr6:63921458-63921508	GM06990	blood:	n/a
21	chr6:63921501-63921551	BJ	skin:	n/a
22	chr6:63873476-63873526	HIPEpiC	eye:	n/a
23	chr6:63921458-63921508	AG09309	skin:	n/a
24	chr6:63921501-63921551	HMEC	breast:	n/a
25	chr6:63921394-63921444	HRCEpiC	kidney:	n/a
26	chr6:63873476-63873526	GM12878	blood:	n/a
27	chr6:63921501-63921551	HNPCEpiC	eye:	n/a
28	chr6:63921394-63921444	AG10803	skin:	n/a
29	chr6:63921458-63921508	PrEC	prostate:	n/a
30	chr6:63873809-63873859	BE2_C	brain:	n/a
31	chr6:63873476-63873526	AoSMC	blood vessel:	n/a
32	chr6:63921458-63921508	NHDF-neo	bronchial:	n/a
33	chr6:63874234-63874284	GM12878	blood:	n/a
34	chr6:63921458-63921508	A549	lung:	n/a
35	chr6:63873809-63873859	HRPEpiC	eye:	n/a
36	chr6:63921501-63921551	NH-A	brain:	n/a
37	chr6:63921501-63921551	HCPEpiC	choroid plexus:	n/a
38	chr6:63921394-63921444	HCF	heart:	n/a
39	chr6:63921458-63921508	SAEC	small airway:	n/a
40	chr6:63921394-63921444	HCM	heart:	n/a
41	chr6:63921501-63921551	A549	lung:	n/a
42	chr6:63921458-63921508	HCF	heart:	n/a
43	chr6:63874234-63874284	PFSK-1	brain:	n/a
44	chr6:63874234-63874284	BE2_C	brain:	n/a
45	chr6:63873476-63873526	PFSK-1	brain:	n/a
46	chr6:63873809-63873859	PANC-1	pancreas:	n/a
47	chr6:63921394-63921444	AoSMC	blood vessel:	n/a
48	chr6:63921458-63921508	SK-N-SH_RA	brain:	n/a
49	chr6:63873809-63873859	HRE	kidney:	n/a
50	chr6:63921501-63921551	PANC-1	pancreas:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:63935123..63936664-chr6:63993478..63995873,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKBP1C-1	chr6:63937390-63937648	NONHSAT113340

No data

Variant related genes	Relation type
FKBP1C	TF binding region
SPTLC1P3	TF binding region
ENSG00000217477	TF binding region
FKBP1C	CpG island
SPTLC1P3	CpG island
ENSG00000217477	CpG island

Extended variants
information (count: 1525 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1525 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190365054	chr6:63838811-63838812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546318371	chr6:63838825-63838826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568995531	chr6:63838907-63838908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375445085	chr6:63838967-63838968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139205837	chr6:63838983-63838984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568388633	chr6:63839033-63839034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73444812	chr6:63839053-63839054	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550318237	chr6:63839111-63839112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568879147	chr6:63839146-63839147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539154810	chr6:63839147-63839148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557455718	chr6:63839170-63839171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149949124	chr6:63839179-63839180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115469193	chr6:63839210-63839211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553221515	chr6:63839263-63839264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377669479	chr6:63839293-63839294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375013750	chr6:63839311-63839312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368729487	chr6:63839340-63839341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182131408	chr6:63839387-63839388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73444813	chr6:63839401-63839402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557069463	chr6:63839405-63839406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575623841	chr6:63839419-63839420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546304888	chr6:63839466-63839467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564588388	chr6:63839548-63839549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528268353	chr6:63839552-63839553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540432645	chr6:63839562-63839563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561979287	chr6:63839589-63839590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574227860	chr6:63839623-63839624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541536618	chr6:63839651-63839652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550901511	chr6:63839771-63839772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568734010	chr6:63839856-63839857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs813148	chr6:63839877-63839878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs553570845	chr6:63839912-63839913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62417099	chr6:63839913-63839914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533801454	chr6:63839916-63839917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375507568	chr6:63839983-63839984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545704186	chr6:63839986-63839987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563854831	chr6:63839997-63839998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568678015	chr6:63840012-63840013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75733152	chr6:63840014-63840015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368242708	chr6:63840034-63840035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557670451	chr6:63840053-63840054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575515466	chr6:63840066-63840067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546241823	chr6:63840074-63840075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558238013	chr6:63840192-63840193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531094338	chr6:63840205-63840206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73444817	chr6:63840216-63840217	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540773394	chr6:63840258-63840259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561733851	chr6:63840261-63840262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576653389	chr6:63840332-63840333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573804989	chr6:63840333-63840334	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Acute lymphoblastic leukemia	20435627	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
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
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63838800-63839400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:63839400-63840000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:63840000-63840400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:63840400-63840600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:63840600-63840800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:63843200-63844200	Enhancers	Liver	Liver
7	chr6:63844200-63845200	Weak transcription	Liver	Liver
8	chr6:63848800-63849800	Weak transcription	Liver	Liver
9	chr6:63849800-63851200	Enhancers	Liver	Liver
10	chr6:63854800-63855600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:63855000-63855800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:63855000-63856000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:63855400-63856000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr6:63855400-63856000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:63858800-63860200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:63859000-63860800	Enhancers	Fetal Intestine Small	intestine
17	chr6:63859000-63861000	Enhancers	Fetal Intestine Large	intestine
18	chr6:63859600-63859800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:63859800-63877000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:63875200-63875600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:63877000-63877200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:63913400-63914000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:63924000-63925600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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