Variant report

Variant	nsv521239
Chromosome Location	chr3:155755327-155762725
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	chr3:155761663-155762022	Medullo	brain:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
6	CTCF	chr3:155761780-155761930	AG04449	skin:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
7	CTCF	chr3:155761730-155761981	GM12891	blood:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
8	CTCF	chr3:155761760-155761910	HEK293	kidney:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
9	CTCF	chr3:155761920-155762070	BE2_C	brain:	n/a	n/a
10	CTCF	chr3:155761760-155761910	AG10803	skin:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
11	CTCF	chr3:155761700-155761850	RPTEC	kidney:	n/a	n/a
12	CTCF	chr3:155761645-155761977	HepG2	liver:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
13	CTCF	chr3:155761920-155762070	A549	lung:	n/a	n/a
14	CTCF	chr3:155761750-155761958	MCF-7	breast:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
15	CTCF	chr3:155762012-155762235	GM10248	blood:	n/a	n/a
16	CTCF	chr3:155761680-155761830	GM12869	blood:	n/a	n/a
17	CTCF	chr3:155761660-155761810	HRE	kidney:	n/a	n/a
18	CTCF	chr3:155761701-155762004	K562	blood:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
19	CTCF	chr3:155762000-155762150	GM12865	blood:	n/a	n/a
20	CTCF	chr3:155761800-155761950	GM12873	blood:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
21	CTCF	chr3:155761920-155762070	GM12866	blood:	n/a	n/a
22	CTCF	chr3:155761680-155761830	AG10803	skin:	n/a	n/a
23	CTCF	chr3:155761780-155761930	GM12801	blood:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
24	CTCF	chr3:155761748-155761968	GM19239	blood:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
25	CTCF	chr3:155762162-155762171	GM19238	blood:	n/a	n/a
26	CTCF	chr3:155761708-155761963	HepG2	liver:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
27	CTCF	chr3:155761700-155761850	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr3:155761800-155761950	HRE	kidney:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
29	CTCF	chr3:155761680-155761830	AG09319	gingival:	n/a	n/a
30	CTCF	chr3:155760092-155760195	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr3:155761758-155761959	H1-hESC	embryonic stem cell:	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	chr3:155761720-155761870	Hela-S3	cervix:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
34	CTCF	chr3:155761660-155761988	K562	blood:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
35	CTCF	chr3:155761700-155761850	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr3:155761800-155761950	GM12872	blood:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
37	CTCF	chr3:155761780-155761930	Hela-S3	cervix:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
38	CTCF	chr3:155761680-155761830	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr3:155761714-155761948	SK-N-SH_RA	brain:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
40	CTCF	chr3:155761667-155761944	A549	lung:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
41	CTCF	chr3:155761740-155761890	SK-N-SH_RA	brain:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
42	CTCF	chr3:155761820-155761970	SAEC	small airway:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
43	CTCF	chr3:155761680-155761830	GM06990	blood:	n/a	n/a
44	CTCF	chr3:155761625-155762169	A549	lung:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
45	CTCF	chr3:155761700-155761850	GM12872	blood:	n/a	n/a
46	CTCF	chr3:155761680-155761830	HFF	foreskin:	n/a	n/a
47	CTCF	chr3:155761780-155761930	SK-N-SH_RA	brain:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
48	CTCF	chr3:155761760-155761910	WERI-Rb-1	eye:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
49	CTCF	chr3:155761717-155761996	H1-hESC	embryonic stem cell:	n/a	chr3:155761841-155761857 chr3:155761840-155761858 chr3:155761843-155761856
50	CTCF	chr3:155761680-155761830	BE2_C	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:155760176-155760226	HUVEC	blood vessel:	n/a
2	chr3:155760176-155760226	HRCEpiC	kidney:	n/a
3	chr3:155759425-155759475	HPAEpiC	pulmonary alveolar:	n/a
4	chr3:155759425-155759475	HEEpiC	esophagus:	n/a
5	chr3:155760176-155760226	PANC-1	pancreas:	n/a
6	chr3:155759425-155759475	LNCaP	prostate:	n/a
7	chr3:155760176-155760226	MCF10A-Er-Src	breast:	n/a
8	chr3:155759425-155759475	AG04449	skin:	fetal
9	chr3:155760176-155760226	NT2-D1	testis:	n/a
10	chr3:155760037-155760087	Hela-S3	cervix:	n/a
11	chr3:155760176-155760226	NH-A	brain:	n/a
12	chr3:155759425-155759475	SKMC	muscle:	n/a
13	chr3:155760037-155760087	GM12891	blood:	n/a
14	chr3:155760176-155760226	U87	brain:	n/a
15	chr3:155760037-155760087	NB4	blood:	n/a
16	chr3:155760037-155760087	PANC-1	pancreas:	n/a
17	chr3:155759425-155759475	AG09319	gingival:	n/a
18	chr3:155759425-155759475	HCPEpiC	choroid plexus:	n/a
19	chr3:155759425-155759475	Hela-S3	cervix:	n/a
20	chr3:155760176-155760226	SAEC	small airway:	n/a
21	chr3:155760037-155760087	HRPEpiC	eye:	n/a
22	chr3:155760037-155760087	H1-hESC	embryonic stem cell:	embryo
23	chr3:155760037-155760087	HepG2	liver:	n/a
24	chr3:155760176-155760226	ECC-1	luminal epithelium:	n/a
25	chr3:155759425-155759475	GM19239	blood:	n/a
26	chr3:155759425-155759475	AG04450	lung:	fetal
27	chr3:155760176-155760226	K562	blood:	n/a
28	chr3:155760176-155760226	AoSMC	blood vessel:	n/a
29	chr3:155760176-155760226	ovcar-3	ovarian:	n/a
30	chr3:155759425-155759475	Hepatocyte	liver:	n/a
31	chr3:155759425-155759475	HL-60	blood:	n/a
32	chr3:155759425-155759475	MCF10A-Er-Src	breast:	n/a
33	chr3:155760176-155760226	HEK293	kidney:	embryo
34	chr3:155759425-155759475	BE2_C	brain:	n/a
35	chr3:155760176-155760226	AG10803	skin:	n/a
36	chr3:155760037-155760087	SK-N-MC	brain:	n/a
37	chr3:155760037-155760087	HIPEpiC	eye:	n/a
38	chr3:155759425-155759475	IMR90	lung:	fetal
39	chr3:155759425-155759475	T-47D	breast:	n/a
40	chr3:155760037-155760087	AG04450	lung:	fetal
41	chr3:155759425-155759475	SK-N-SH_RA	brain:	n/a
42	chr3:155760037-155760087	PFSK-1	brain:	n/a
43	chr3:155760037-155760087	LNCaP	prostate:	n/a
44	chr3:155760037-155760087	HCF	heart:	n/a
45	chr3:155759425-155759475	HCM	heart:	n/a
46	chr3:155759425-155759475	CMK	blood:	n/a
47	chr3:155760037-155760087	Caco-2	colon:	n/a
48	chr3:155759425-155759475	Caco-2	colon:	n/a
49	chr3:155760176-155760226	GM06990	blood:	n/a
50	chr3:155760176-155760226	PrEC	prostate:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNAB1-1	chr3:155755490-155755534	NONHSAT092851

Variant related genes	Relation type
KCNAB1	TF binding region
KCNAB1	CpG island

Extended variants
information (count: 390 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9848466	chr3:155755327-155755328	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544323724	chr3:155755328-155755329	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113841314	chr3:155755354-155755355	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs189928383	chr3:155755358-155755359	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs73161007	chr3:155755360-155755361	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs537330937	chr3:155755365-155755366	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs140184395	chr3:155755396-155755397	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs13061305	chr3:155755501-155755502	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs576930607	chr3:155755504-155755505	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs143875340	chr3:155755515-155755516	Enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs567098240	chr3:155755564-155755565	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs553109911	chr3:155755574-155755575	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs181367912	chr3:155755582-155755583	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs66771135	chr3:155755627-155755628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563906089	chr3:155755663-155755664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531135580	chr3:155755670-155755671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116970352	chr3:155755699-155755700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564402515	chr3:155755705-155755706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186020379	chr3:155755718-155755719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189873965	chr3:155755740-155755741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146792601	chr3:155755823-155755824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71310459	chr3:155755827-155755828	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537910796	chr3:155755847-155755848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375691982	chr3:155755874-155755875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548130662	chr3:155755900-155755901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569818668	chr3:155755920-155755921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199876539	chr3:155755938-155755939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548576483	chr3:155755946-155755947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558914282	chr3:155755952-155755953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570712487	chr3:155755957-155755958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181864920	chr3:155755958-155755959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186270411	chr3:155755970-155755971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190344015	chr3:155755986-155755987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541888583	chr3:155755993-155755994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs57402667	chr3:155756012-155756013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397953240	chr3:155756013-155756014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200245688	chr3:155756015-155756016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557304514	chr3:155756031-155756032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535672132	chr3:155756100-155756101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183740404	chr3:155756102-155756103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545957311	chr3:155756138-155756139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564442095	chr3:155756207-155756208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367853231	chr3:155756224-155756225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554029161	chr3:155756260-155756261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs60683789	chr3:155756334-155756335	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs75209292	chr3:155756352-155756353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562109346	chr3:155756389-155756390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114724842	chr3:155756398-155756399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572289165	chr3:155756491-155756492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113973639	chr3:155756498-155756499	Weak transcription Enhancers	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155754200-155758200	Enhancers	Brain Hippocampus Middle	brain
2	chr3:155754400-155755400	Enhancers	Brain Cingulate Gyrus	brain
3	chr3:155754400-155755600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:155754400-155755600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:155754400-155755600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr3:155754600-155755600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:155754800-155758000	Weak transcription	Brain Angular Gyrus	brain
8	chr3:155754800-155758000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:155755000-155755600	Active TSS	Brain Anterior Caudate	brain
10	chr3:155755200-155756800	Weak transcription	Brain Substantia Nigra	brain
11	chr3:155755600-155756800	Weak transcription	Brain Anterior Caudate	brain
12	chr3:155756800-155757000	Enhancers	Brain Anterior Caudate	brain
13	chr3:155756800-155757200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:155756800-155757200	Enhancers	Brain Substantia Nigra	brain
15	chr3:155756800-155757200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr3:155757000-155757200	Enhancers	Osteobl	bone
17	chr3:155757000-155758800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:155758000-155758200	Enhancers	Brain Angular Gyrus	brain
19	chr3:155758000-155758200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr3:155758000-155764800	Weak transcription	Right Atrium	heart
21	chr3:155759800-155761000	Enhancers	HepG2	liver
22	chr3:155761800-155762200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:155761800-155762200	Enhancers	Placenta	Placenta
24	chr3:155762000-155762200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr3:155762000-155762400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:155762200-155763400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:155762400-155762600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:155762400-155763600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:155762600-155769400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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