Variant report

Variant	nsv965225
Chromosome Location	chr3:155758196-155767076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr3:155761753-155761990	GM12878	blood:	n/a	n/a
2	BCL11A	chr3:155761735-155761903	GM12878	blood:	n/a	n/a
3	BRCA1	chr3:155761783-155761903	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr3:155761802-155761973	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr3:155761515-155762140	A549	lung:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
6	CTCF	chr3:155760092-155760195	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr3:155761680-155761830	A549	lung:	n/a	n/a
8	CTCF	chr3:155761920-155762070	HRE	kidney:	n/a	n/a
9	CTCF	chr3:155761700-155761850	GM12869	blood:	n/a	n/a
10	CTCF	chr3:155761660-155761988	K562	blood:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
11	CTCF	chr3:155761723-155761958	HUVEC	blood vessel:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
12	CTCF	chr3:155761714-155761948	SK-N-SH_RA	brain:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
13	CTCF	chr3:155761700-155761850	GM12871	blood:	n/a	n/a
14	CTCF	chr3:155761557-155761560	GM13977	blood:	n/a	n/a
15	CTCF	chr3:155761760-155761910	AG10803	skin:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
16	CTCF	chr3:155761743-155761973	MCF-7	breast:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
17	CTCF	chr3:155761752-155761938	MCF-7	breast:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
18	CTCF	chr3:155761680-155761830	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr3:155761800-155761950	HEK293	kidney:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
20	CTCF	chr3:155761659-155762154	K562	blood:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
21	CTCF	chr3:155761600-155761750	NHLF	lung:	n/a	n/a
22	CTCF	chr3:155761800-155761950	GM12878	blood:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
23	CTCF	chr3:155761740-155761890	HepG2	liver:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
24	CTCF	chr3:155761731-155761980	GM19240	blood:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
25	CTCF	chr3:155762260-155762410	GM12871	blood:	n/a	n/a
26	CTCF	chr3:155761920-155762070	NHLF	lung:	n/a	n/a
27	CTCF	chr3:155761640-155761790	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr3:155761700-155761850	GM12870	blood:	n/a	n/a
29	CTCF	chr3:155761680-155761830	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr3:155761748-155761968	GM19239	blood:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
31	CTCF	chr3:155761716-155761996	IMR90	lung:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
32	CTCF	chr3:155761760-155761910	GM12874	blood:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
33	CTCF	chr3:155761724-155761984	Gliobla	brain:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
34	CTCF	chr3:155761680-155761830	GM12869	blood:	n/a	n/a
35	CTCF	chr3:155761800-155761950	HUVEC	blood vessel:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
36	CTCF	chr3:155761751-155761960	NHEK	skin:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
37	CTCF	chr3:155761680-155761830	HCT-116	colon:	n/a	n/a
38	CTCF	chr3:155761920-155762070	GM12866	blood:	n/a	n/a
39	CTCF	chr3:155761702-155761966	GM10266	blood:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
40	CTCF	chr3:155761680-155761830	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr3:155761720-155761995	A549	lung:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
42	CTCF	chr3:155761680-155761830	HCFaa	heart:	n/a	n/a
43	CTCF	chr3:155761760-155761910	HUVEC	blood vessel:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
44	CTCF	chr3:155761660-155761810	HMF	breast:	n/a	n/a
45	CTCF	chr3:155761780-155761930	WERI-Rb-1	eye:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
46	CTCF	chr3:155761546-155762286	SK-N-SH	brain:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
47	CTCF	chr3:155761720-155761870	SAEC	small airway:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
48	CTCF	chr3:155762120-155762270	AG10803	skin:	n/a	n/a
49	CTCF	chr3:155761680-155761830	BE2_C	brain:	n/a	n/a
50	CTCF	chr3:155761645-155761977	HepG2	liver:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:155760176-155760226	ProgFib	skin:	n/a
2	chr3:155760176-155760226	HepG2	liver:	n/a
3	chr3:155759425-155759475	PrEC	prostate:	n/a
4	chr3:155760037-155760087	GM12891	blood:	n/a
5	chr3:155759425-155759475	NT2-D1	testis:	n/a
6	chr3:155760176-155760226	U87	brain:	n/a
7	chr3:155760037-155760087	ECC-1	luminal epithelium:	n/a
8	chr3:155760176-155760226	HEK293	kidney:	embryo
9	chr3:155760037-155760087	HUVEC	blood vessel:	n/a
10	chr3:155760037-155760087	PrEC	prostate:	n/a
11	chr3:155760176-155760226	Jurkat	blood:	n/a
12	chr3:155759425-155759475	AG04450	lung:	fetal
13	chr3:155760037-155760087	NHDF-neo	bronchial:	n/a
14	chr3:155760037-155760087	SK-N-SH_RA	brain:	n/a
15	chr3:155760037-155760087	AoSMC	blood vessel:	n/a
16	chr3:155760037-155760087	MCF-7	breast:	n/a
17	chr3:155759425-155759475	NHDF-neo	bronchial:	n/a
18	chr3:155760176-155760226	GM12891	blood:	n/a
19	chr3:155759425-155759475	HRCEpiC	kidney:	n/a
20	chr3:155760037-155760087	NH-A	brain:	n/a
21	chr3:155760037-155760087	NT2-D1	testis:	n/a
22	chr3:155760176-155760226	HPAEpiC	pulmonary alveolar:	n/a
23	chr3:155760037-155760087	A549	lung:	n/a
24	chr3:155760176-155760226	HMEC	breast:	n/a
25	chr3:155760037-155760087	U87	brain:	n/a
26	chr3:155760176-155760226	PANC-1	pancreas:	n/a
27	chr3:155760176-155760226	K562	blood:	n/a
28	chr3:155760037-155760087	Caco-2	colon:	n/a
29	chr3:155759425-155759475	HCM	heart:	n/a
30	chr3:155760037-155760087	AG04449	skin:	fetal
31	chr3:155759425-155759475	RPTEC	kidney:	n/a
32	chr3:155760037-155760087	SKMC	muscle:	n/a
33	chr3:155760176-155760226	NHBE	bronchial:	n/a
34	chr3:155760176-155760226	HL-60	blood:	n/a
35	chr3:155760176-155760226	GM12878	blood:	n/a
36	chr3:155759425-155759475	Hela-S3	cervix:	n/a
37	chr3:155759425-155759475	SAEC	small airway:	n/a
38	chr3:155760176-155760226	AG10803	skin:	n/a
39	chr3:155759425-155759475	SK-N-SH_RA	brain:	n/a
40	chr3:155760176-155760226	HUVEC	blood vessel:	n/a
41	chr3:155760037-155760087	HNPCEpiC	eye:	n/a
42	chr3:155760037-155760087	Jurkat	blood:	n/a
43	chr3:155760176-155760226	AG09309	skin:	n/a
44	chr3:155759425-155759475	GM19239	blood:	n/a
45	chr3:155760037-155760087	PANC-1	pancreas:	n/a
46	chr3:155759425-155759475	LNCaP	prostate:	n/a
47	chr3:155760176-155760226	CMK	blood:	n/a
48	chr3:155759425-155759475	BJ	skin:	n/a
49	chr3:155760176-155760226	AG04449	skin:	fetal
50	chr3:155760037-155760087	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:155766964..155770494-chr3:155772877..155775974,3	K562	blood:

Variant related genes	Relation type
ALG1L15P	TF binding region
ALG1L15P	CpG island

Extended variants
information (count: 464 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:464 , 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	rs75120236	chr3:155758261-155758262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562674170	chr3:155758304-155758305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148887726	chr3:155758313-155758314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28454940	chr3:155758317-155758318	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562023619	chr3:155758319-155758320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555259804	chr3:155758321-155758322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76186048	chr3:155758354-155758355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550597443	chr3:155758366-155758367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578204371	chr3:155758379-155758380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373314014	chr3:155758399-155758400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115680839	chr3:155758453-155758454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187947510	chr3:155758471-155758472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566185748	chr3:155758482-155758483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534415285	chr3:155758531-155758532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192844915	chr3:155758554-155758555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146986202	chr3:155758561-155758562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538137716	chr3:155758595-155758596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28653682	chr3:155758614-155758615	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs578083322	chr3:155758699-155758700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545390361	chr3:155758714-155758715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554309637	chr3:155758729-155758730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147602564	chr3:155758766-155758767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540461096	chr3:155758815-155758816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73873463	chr3:155758818-155758819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs185191710	chr3:155758856-155758857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142296639	chr3:155758861-155758862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190121017	chr3:155758893-155758894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201895024	chr3:155758907-155758908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192894150	chr3:155758916-155758917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552855301	chr3:155758952-155758953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9868826	chr3:155758967-155758968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540883624	chr3:155758968-155758969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566272094	chr3:155758984-155758985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527393988	chr3:155758985-155758986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549584997	chr3:155758993-155758994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184962317	chr3:155758994-155758995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549879906	chr3:155759003-155759004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568204959	chr3:155759027-155759028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9813738	chr3:155759048-155759049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs370523911	chr3:155759058-155759059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373999045	chr3:155759069-155759070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565869364	chr3:155759096-155759097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572547784	chr3:155759105-155759106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539321992	chr3:155759113-155759114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375722647	chr3:155759136-155759137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555569117	chr3:155759139-155759140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112649563	chr3:155759140-155759141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543956588	chr3:155759158-155759159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562453993	chr3:155759159-155759160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560496703	chr3:155759182-155759183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155754200-155758200	Enhancers	Brain Hippocampus Middle	brain
2	chr3:155757000-155758800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:155758000-155758200	Enhancers	Brain Angular Gyrus	brain
4	chr3:155758000-155758200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr3:155758000-155764800	Weak transcription	Right Atrium	heart
6	chr3:155759800-155761000	Enhancers	HepG2	liver
7	chr3:155761800-155762200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:155761800-155762200	Enhancers	Placenta	Placenta
9	chr3:155762000-155762200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:155762000-155762400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:155762200-155763400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:155762400-155762600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:155762400-155763600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:155762600-155769400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:155763400-155763800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:155763400-155763800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:155763800-155764000	Enhancers	HUES6 Cell Line	embryonic stem cell

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