Variant report

Variant	nsv1000929
Chromosome Location	chr3:80829259-80880282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:142)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:142 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:80834775-80834983	K562	blood:	n/a	chr3:80834946-80834959 chr3:80834948-80834959
2	CEBPB	chr3:80872478-80872657	HepG2	liver:	n/a	n/a
3	CTCF	chr3:80834660-80834810	K562	blood:	n/a	n/a
4	CTCF	chr3:80834685-80834934	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr3:80834760-80834910	GM12872	blood:	n/a	n/a
6	CTCF	chr3:80834699-80834943	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr3:80834720-80834870	GM12872	blood:	n/a	n/a
8	CTCF	chr3:80834760-80834910	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr3:80834720-80834870	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chr3:80834680-80834830	GM12872	blood:	n/a	n/a
11	CTCF	chr3:80834740-80834888	MCF-7	breast:	n/a	n/a
12	CTCF	chr3:80834642-80834948	MCF-7	breast:	n/a	n/a
13	CTCF	chr3:80834740-80834890	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr3:80834687-80834932	MCF-7	breast:	n/a	n/a
15	CTCF	chr3:80834720-80834870	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr3:80834740-80834890	HEK293	kidney:	n/a	n/a
17	CTCF	chr3:80834731-80834899	LNCaP	prostate:	n/a	n/a
18	CTCF	chr3:80834627-80834931	HepG2	liver:	n/a	n/a
19	CTCF	chr3:80834636-80834940	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr3:80834740-80834890	GM12868	blood:	n/a	n/a
21	CTCF	chr3:80834709-80834922	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr3:80834680-80834830	GM12869	blood:	n/a	n/a
23	CTCF	chr3:80834740-80834890	HRE	kidney:	n/a	n/a
24	CTCF	chr3:80834778-80834866	GM19238	blood:	n/a	n/a
25	CTCF	chr3:80834720-80834870	GM12878	blood:	n/a	n/a
26	CTCF	chr3:80834680-80834830	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr3:80834763-80834858	MCF-7	breast:	n/a	n/a
28	CTCF	chr3:80834720-80834870	HRE	kidney:	n/a	n/a
29	CTCF	chr3:80834780-80834930	MCF-7	breast:	n/a	n/a
30	CTCF	chr3:80834740-80834890	GM12867	blood:	n/a	n/a
31	CTCF	chr3:80834780-80834930	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr3:80834746-80834862	GM12878	blood:	n/a	n/a
33	CTCF	chr3:80834777-80834859	NHEK	skin:	n/a	n/a
34	CTCF	chr3:80834760-80834910	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr3:80834720-80834870	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr3:80834639-80834988	GM12878	blood:	n/a	n/a
37	CTCF	chr3:80834700-80834850	Caco-2	colon:	n/a	n/a
38	CTCF	chr3:80834720-80834870	Caco-2	colon:	n/a	n/a
39	CTCF	chr3:80834751-80834860	GM13977	blood:	n/a	n/a
40	CTCF	chr3:80834628-80834914	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr3:80834680-80834830	BE2_C	brain:	n/a	n/a
42	CTCF	chr3:80834680-80834830	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr3:80834704-80834910	MCF-7	breast:	n/a	n/a
44	CTCF	chr3:80834680-80834830	HepG2	liver:	n/a	n/a
45	CTCF	chr3:80834708-80834908	LNCaP	prostate:	n/a	n/a
46	CTCF	chr3:80834740-80834890	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr3:80834682-80834931	Medullo	brain:	n/a	n/a
48	CTCF	chr3:80834626-80834880	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr3:80834660-80834810	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr3:80834671-80834876	HepG2	liver:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:80834290..80834919-chr3:81261681..81262310,2	MCF-7	breast:
2	chr3:80834856..80837814-chr3:80838749..80840766,2	K562	blood:
3	chr3:80838553..80840171-chr3:80842112..80844351,2	K562	blood:
4	chr3:80827294..80829642-chr3:80930397..80932300,2	K562	blood:
5	chr3:80838553..80841714-chr3:80842203..80845543,3	K562	blood:
6	chr3:80875293..80877244-chr3:80879885..80882049,2	K562	blood:
7	chr3:80834337..80835202-chr3:81286080..81286809,2	MCF-7	breast:
8	chr3:80834856..80837814-chr3:80838749..80840766,2	K562	blood:
9	chr3:80825917..80827849-chr3:80831317..80833041,2	K562	blood:
10	chr3:80821129..80823686-chr3:80831017..80833623,2	K562	blood:
11	chr3:80849060..80851440-chr3:80853820..80855554,2	K562	blood:
12	chr3:80838553..80840171-chr3:80842112..80844351,2	K562	blood:
13	chr3:80875293..80877244-chr3:80879885..80882049,2	K562	blood:
14	chr3:80838553..80841714-chr3:80842203..80845543,3	K562	blood:
15	chr3:80834437..80835331-chr3:81222438..81223378,5	MCF-7	breast:
16	chr3:80833065..80833970-chr7:150101734..150102640,2	MCF-7	breast:
17	chr3:80849060..80851440-chr3:80853820..80855554,2	K562	blood:
18	chr3:80834386..80835294-chr3:81291747..81292775,9	MCF-7	breast:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ROBO2-4	chr3:80837948-80838120	XLOC_002716
2	lnc-ROBO2-4	chr3:80838388-80838518	XLOC_002716
3	lnc-ROBO2-4	chr3:80838388-80838505	XLOC_002716
4	lnc-ROBO2-4	chr3:80838388-80838505	XLOC_002716
5	lnc-ROBO2-4	chr3:80838388-80838505	XLOC_002716
6	lnc-ROBO2-4	chr3:80837948-80838120	XLOC_002716
7	lnc-ROBO2-4	chr3:80837948-80838120	XLOC_002716
8	lnc-ROBO2-4	chr3:80838388-80838518	XLOC_002716
9	lnc-ROBO2-4	chr3:80829244-80829396	XLOC_002716
10	lnc-ROBO2-4	chr3:80838388-80838518	XLOC_002716
11	lnc-ROBO2-4	chr3:80837948-80838120	XLOC_002716
12	lnc-ROBO2-4	chr3:80837948-80838120	XLOC_002716
13	lnc-ROBO2-4	chr3:80836695-80836724	XLOC_002716
14	lnc-ROBO2-4	chr3:80833192-80833268	XLOC_002716
15	lnc-GBE1-5	chr3:80837992-80838114	XLOC_003167
16	lnc-ROBO2-4	chr3:80837948-80838120	XLOC_002716

No data

Variant related genes	Relation type
ENSG00000242828	TF binding region
ENSG00000196456	chromatin interactions
SIRT1	miRNA target sites
OSBPL8	miRNA target sites
TGFBR2	miRNA target sites
DSG2	miRNA target sites

Extended variants
information (count: 270 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115578375	chr3:80829268-80829269	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs540209715	chr3:80829273-80829274	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs9682002	chr3:80829294-80829295	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182361194	chr3:80829308-80829309	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs62258013	chr3:80829332-80829333	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs548159009	chr3:80829336-80829337	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs561871200	chr3:80829343-80829344	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs573346721	chr3:80829416-80829417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545262224	chr3:80829435-80829436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530876435	chr3:80829443-80829444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111687680	chr3:80829472-80829473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150455274	chr3:80829491-80829492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570907207	chr3:80829568-80829569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115058454	chr3:80829579-80829580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186917704	chr3:80829625-80829626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189158385	chr3:80829633-80829634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377293788	chr3:80829641-80829642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535470787	chr3:80829747-80829748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555371838	chr3:80829752-80829753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568948014	chr3:80829890-80829891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9866571	chr3:80829914-80829915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149637083	chr3:80829944-80829945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147144901	chr3:80829951-80829952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375407494	chr3:80830016-80830017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540023363	chr3:80830017-80830018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553681570	chr3:80830019-80830020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544242417	chr3:80830093-80830094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573573569	chr3:80830115-80830116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541838794	chr3:80830171-80830172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561708510	chr3:80830194-80830195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531035638	chr3:80830210-80830211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544424935	chr3:80830241-80830242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564592971	chr3:80830323-80830324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533392602	chr3:80830329-80830330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547193593	chr3:80830330-80830331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567193898	chr3:80830356-80830357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560838288	chr3:80830400-80830401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529576746	chr3:80830411-80830412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111925939	chr3:80830422-80830423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540490677	chr3:80830426-80830427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537839841	chr3:80830437-80830438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142756141	chr3:80830448-80830449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571299077	chr3:80830481-80830482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533763254	chr3:80830536-80830537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553519740	chr3:80830554-80830555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181491151	chr3:80830556-80830557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542469301	chr3:80830577-80830578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377406775	chr3:80833096-80833097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs572414376	chr3:80833101-80833102	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs60793674	chr3:80833111-80833112	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80820800-80830600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:80844400-80845000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:80844600-80845400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:80851200-80851600	Enhancers	Duodenum Mucosa	Duodenum
5	chr3:80853400-80855800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:80854000-80856600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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