Variant report

Variant	nsv1033396
Chromosome Location	chr8:47459142-47509848
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	BHLHE40	chr8:47484595-47485045	K562	blood:	n/a	n/a
2	CEBPB	chr8:47493915-47494006	K562	blood:	n/a	n/a
3	CEBPB	chr8:47491088-47491218	IMR90	lung:	n/a	chr8:47491158-47491169
4	CEBPB	chr8:47491039-47491236	HepG2	liver:	n/a	chr8:47491158-47491169
5	CEBPB	chr8:47495566-47495807	HepG2	liver:	n/a	n/a
6	CEBPB	chr8:47491043-47491262	K562	blood:	n/a	chr8:47491158-47491169
7	CEBPB	chr8:47480858-47480864	HepG2	liver:	n/a	n/a
8	CEBPB	chr8:47504609-47504813	HepG2	liver:	n/a	chr8:47504728-47504745 chr8:47504677-47504688 chr8:47504676-47504689 chr8:47504731-47504743
9	CEBPB	chr8:47491067-47491227	A549	lung:	n/a	chr8:47491158-47491169
10	CEBPB	chr8:47506841-47507041	K562	blood:	n/a	chr8:47506900-47506917
11	CTCF	chr8:47484617-47484770	A549	lung:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
12	CTCF	chr8:47484440-47484590	GM06990	blood:	n/a	n/a
13	CTCF	chr8:47484480-47484630	HVMF	connective:	n/a	n/a
14	CTCF	chr8:47484637-47484794	GM13977	blood:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
15	CTCF	chr8:47479962-47480024	LNCaP	prostate:	n/a	chr8:47479982-47480000 chr8:47479977-47479998 chr8:47479984-47479997
16	CTCF	chr8:47484660-47484810	SK-N-SH_RA	brain:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
17	CTCF	chr8:47484620-47484770	HPF	lung:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
18	CTCF	chr8:47484584-47484585	K562	blood:	n/a	n/a
19	CTCF	chr8:47484640-47484790	HCPEpiC	choroid plexus:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
20	CTCF	chr8:47484600-47484750	HepG2	liver:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
21	CTCF	chr8:47484940-47485090	NHEK	skin:	n/a	n/a
22	CTCF	chr8:47484720-47484870	BE2_C	brain:	n/a	n/a
23	CTCF	chr8:47484620-47484770	HepG2	liver:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
24	CTCF	chr8:47484720-47484870	HMEC	breast:	n/a	n/a
25	CTCF	chr8:47484500-47484650	A549	lung:	n/a	n/a
26	CTCF	chr8:47484598-47484838	Hela-S3	cervix:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
27	CTCF	chr8:47484620-47484770	HMF	breast:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
28	CTCF	chr8:47484660-47484810	HBMEC	blood vessel:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
29	CTCF	chr8:47484615-47484792	Medullo	brain:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
30	CTCF	chr8:47484587-47484893	SK-N-SH_RA	brain:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
31	CTCF	chr8:47484520-47484670	GM12869	blood:	n/a	n/a
32	CTCF	chr8:47484604-47484823	HepG2	liver:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
33	CTCF	chr8:47484660-47484810	HPF	lung:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
34	CTCF	chr8:47484660-47484810	K562	blood:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
35	CTCF	chr8:47484720-47484870	RPTEC	kidney:	n/a	n/a
36	CTCF	chr8:47484740-47484890	GM12864	blood:	n/a	n/a
37	CTCF	chr8:47484620-47484770	GM12864	blood:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
38	CTCF	chr8:47484620-47484770	GM12878	blood:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
39	CTCF	chr8:47484640-47484790	Caco-2	colon:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
40	CTCF	chr8:47484600-47484750	HCFaa	heart:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
41	CTCF	chr8:47484620-47484770	MCF-7	breast:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
42	CTCF	chr8:47484619-47484781	ProgFib	skin:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
43	CTCF	chr8:47484680-47484830	RPTEC	kidney:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
44	CTCF	chr8:47484576-47484862	Gliobla	brain:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
45	CTCF	chr8:47498117-47498200	GM13976	blood:	n/a	n/a
46	CTCF	chr8:47484570-47484831	K562	blood:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
47	CTCF	chr8:47484500-47484650	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr8:47484600-47484750	GM12865	blood:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
49	CTCF	chr8:47484620-47484770	HBMEC	blood vessel:	n/a	chr8:47484710-47484723 chr8:47484708-47484726 chr8:47484709-47484725 chr8:47484703-47484724
50	CTCF	chr8:47484500-47484650	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:47168205..47168775-chr8:47479656..47480472,2	MCF-7	breast:
2	chr8:47491632..47493538-chr8:47505350..47507971,2	K562	blood:
3	chr8:47144016..47144925-chr8:47484500..47485152,3	MCF-7	breast:
4	chr8:47506585..47508657-chr8:47510206..47513067,2	K562	blood:
5	chr8:47491632..47493538-chr8:47505350..47507971,2	K562	blood:
6	chr8:47487702..47490248-chr8:47515594..47517867,2	K562	blood:
7	chr8:47484279..47485112-chr8:47579488..47580411,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LINC00293-4	chr8:47462233-47462424	NONHSAT126406
2	lnc-LINC00293-4	chr8:47460711-47460990	NONHSAT126406

Variant related genes	Relation type
HSPA8P13	TF binding region

Extended variants
information (count: 309 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114107293	chr8:47460722-47460723	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs138725639	chr8:47460753-47460754	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs546128317	chr8:47460810-47460811	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs559879839	chr8:47460813-47460814	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs543207825	chr8:47460818-47460819	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs528643016	chr8:47460833-47460834	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs548684169	chr8:47460834-47460835	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs568519674	chr8:47460849-47460850	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs182290728	chr8:47460934-47460935	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs530934171	chr8:47460965-47460966	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs189849632	chr8:47462251-47462252	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs200702677	chr8:47462252-47462253	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs529172553	chr8:47462265-47462266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs548794619	chr8:47462269-47462270	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs181646606	chr8:47462270-47462271	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs531373525	chr8:47462285-47462286	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs73571015	chr8:47462286-47462287	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs571213369	chr8:47462331-47462332	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs533821800	chr8:47462341-47462342	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs553482189	chr8:47462371-47462372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs567180150	chr8:47462397-47462398	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs554209197	chr8:47463031-47463032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs573700621	chr8:47463055-47463056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs570871881	chr8:47463093-47463094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs542571675	chr8:47463096-47463097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs180799994	chr8:47463100-47463101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs207469109	chr8:47463116-47463117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs185779426	chr8:47463120-47463121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs536666863	chr8:47463135-47463136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs556811094	chr8:47463137-47463138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs375773673	chr8:47463152-47463153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs564914696	chr8:47463164-47463165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs149677293	chr8:47463176-47463177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs4535748	chr8:47463201-47463202	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs547198628	chr8:47463205-47463206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs373179075	chr8:47463211-47463212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs560919900	chr8:47463300-47463301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs529724065	chr8:47463325-47463326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs549793955	chr8:47463341-47463342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs536047544	chr8:47463348-47463349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs34914939	chr8:47463395-47463396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs569620373	chr8:47463397-47463398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs553177849	chr8:47463410-47463411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs572952642	chr8:47463435-47463436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs538519522	chr8:47463436-47463437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs551987647	chr8:47463438-47463439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs571765070	chr8:47463446-47463447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs376915009	chr8:47463452-47463453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs545440913	chr8:47463459-47463460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs115926898	chr8:47463482-47463483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47463000-47463600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:47477600-47477800	Active TSS	Monocytes-CD14+_RO01746	blood
3	chr8:47477800-47478000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr8:47484400-47484600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr8:47486400-47486800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr8:47486400-47488800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:47486800-47487800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:47487800-47488600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr8:47488000-47488800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr8:47488600-47490200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:47488800-47489800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:47489800-47491200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:47490200-47490800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr8:47498200-47498600	Enhancers	Placenta	Placenta

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