Variant report

Variant	nsv971308
Chromosome Location	chr8:54448965-54454234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr8:54451004-54451232	K562	blood:	n/a	n/a
2	CBX3	chr8:54450932-54451330	K562	blood:	n/a	n/a
3	CTCF	chr8:54449325-54449393	Pancreas_OC	pancreas:	n/a	n/a
4	CTCF	chr8:54448900-54449050	HBMEC	blood vessel:	n/a	n/a
5	CTCF	chr8:54449300-54449450	HPAF	blood vessel:	n/a	n/a
6	CTCF	chr8:54449187-54449454	IMR90	lung:	n/a	n/a
7	CTCF	chr8:54449260-54449410	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr8:54449200-54449350	WI-38	lung:	n/a	n/a
9	CTCF	chr8:54452759-54452853	GM10266	blood:	n/a	n/a
10	CTCF	chr8:54449278-54449493	K562	blood:	n/a	n/a
11	FOXA1	chr8:54452577-54452879	HepG2	liver:	n/a	n/a
12	IRF3	chr8:54449687-54449764	GM12878	blood:	n/a	n/a
13	JUN	chr8:54451848-54452137	HepG2	liver:	n/a	n/a
14	JUND	chr8:54451886-54452182	HepG2	liver:	n/a	n/a
15	KAP1	chr8:54450973-54451173	K562	blood:	n/a	n/a
16	KAP1	chr8:54450973-54451304	HEK293	kidney:	n/a	n/a
17	RFX5	chr8:54452099-54452141	HepG2	liver:	n/a	n/a
18	SETDB1	chr8:54450918-54451869	U2OS	brain:	n/a	n/a
19	SETDB1	chr8:54448701-54449098	U2OS	brain:	n/a	n/a
20	SPI1	chr8:54452580-54452767	GM12878	blood:	n/a	n/a
21	SPI1	chr8:54452546-54452794	K562	blood:	n/a	n/a
22	STAT3	chr8:54449617-54449817	MCF10A-Er-Src	breast:	n/a	n/a
23	TCF12	chr8:54451004-54451263	H1-hESC	embryonic stem cell:	n/a	n/a
24	TEAD4	chr8:54450960-54451441	H1-hESC	embryonic stem cell:	n/a	n/a
25	TEAD4	chr8:54451046-54451332	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF143	chr8:54450972-54451299	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS20-3	chr8:54451652-54452860	NONHSAT126601
2	lnc-RGS20-3	chr8:54449620-54450566	NONHSAT126601

No data

Variant related genes	Relation type
ENSG00000206144	TF binding region

Extended variants
information (count: 123 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368565426	chr8:54448969-54448970	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs533519992	chr8:54448977-54448978	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs115107058	chr8:54448988-54448989	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs570330141	chr8:54448989-54448990	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs140439509	chr8:54449027-54449028	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs74691182	chr8:54449045-54449046	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs144196429	chr8:54449087-54449088	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs533934372	chr8:54449095-54449096	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs16919915	chr8:54449109-54449110	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576634334	chr8:54449149-54449150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17361507	chr8:54449213-54449214	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs556058553	chr8:54449283-54449284	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs575957665	chr8:54449390-54449391	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs78022918	chr8:54449411-54449412	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs562155537	chr8:54449419-54449420	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs112288571	chr8:54449428-54449429	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs541521281	chr8:54449440-54449441	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs543494833	chr8:54449519-54449520	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527908031	chr8:54449543-54449544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190129562	chr8:54449615-54449616	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs16922706	chr8:54449635-54449636	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs16922708	chr8:54449675-54449676	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs193069227	chr8:54449683-54449684	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs549406880	chr8:54449695-54449696	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs371602187	chr8:54449775-54449776	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs16919283	chr8:54449792-54449793	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs35199273	chr8:54449823-54449824	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs533513124	chr8:54449826-54449827	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs115922086	chr8:54449838-54449839	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs28694241	chr8:54449851-54449852	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539123718	chr8:54449877-54449878	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs555972930	chr8:54449893-54449894	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs16922709	chr8:54449895-54449896	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185749138	chr8:54449896-54449897	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs189438922	chr8:54449897-54449898	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs34901225	chr8:54449950-54449951	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs572414074	chr8:54450023-54450024	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs541032162	chr8:54450097-54450098	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs73600438	chr8:54450115-54450116	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs114385753	chr8:54450135-54450136	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs377394391	chr8:54450145-54450146	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs543924146	chr8:54450150-54450151	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs563917285	chr8:54450166-54450167	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs369473875	chr8:54450173-54450174	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs373582706	chr8:54450194-54450195	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs181807827	chr8:54450200-54450201	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs79031913	chr8:54450201-54450202	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs527300295	chr8:54450286-54450287	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs145112594	chr8:54450307-54450308	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs185389446	chr8:54450310-54450311	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
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
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
Cancer	20164920	CNVD
Oral cancer	21386901	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54448600-54449000	Active TSS	K562	blood
2	chr8:54448600-54449400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:54448800-54449400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:54449400-54450400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:54449400-54450400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:54449600-54450400	Enhancers	Rectal Smooth Muscle	rectum
7	chr8:54449600-54450600	Enhancers	Colon Smooth Muscle	Colon
8	chr8:54449600-54450600	Enhancers	Stomach Smooth Muscle	stomach
9	chr8:54450400-54450600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links