Variant report

Variant	nsv971303
Chromosome Location	chr8:47508502-47527371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:47525869-47526123	K562	blood:	n/a	n/a
2	CHD2	chr8:47525880-47525892	HepG2	liver:	n/a	n/a
3	CTCF	chr8:47519830-47519927	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr8:47511320-47511470	HUVEC	blood vessel:	n/a	n/a
5	E2F4	chr8:47513085-47513283	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr8:47525716-47525975	K562	blood:	n/a	n/a
7	EP300	chr8:47509206-47509273	GM12878	blood:	n/a	n/a
8	FOXA1	chr8:47520252-47520488	T-47D	breast:	n/a	n/a
9	GABPA	chr8:47526454-47526568	GM12878	blood:	n/a	n/a
10	GATA2	chr8:47517553-47518082	SH-SY5Y	brain:	n/a	chr8:47517897-47517910
11	GATA3	chr8:47517477-47518042	SH-SY5Y	brain:	n/a	chr8:47517897-47517910
12	HCFC1	chr8:47525731-47525743	K562	blood:	n/a	n/a
13	MAFF	chr8:47518020-47518249	HepG2	liver:	n/a	n/a
14	MAFK	chr8:47518078-47518251	HepG2	liver:	n/a	n/a
15	MAFK	chr8:47518068-47518278	HepG2	liver:	n/a	n/a
16	MYC	chr8:47510796-47510807	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chr8:47525803-47526003	K562	blood:	n/a	n/a
18	POLR2A	chr8:47521277-47521763	K562	blood:	n/a	n/a
19	POLR2A	chr8:47525211-47529572	K562	blood:	n/a	n/a
20	POLR2A	chr8:47517971-47518016	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr8:47516376-47519492	K562	blood:	n/a	n/a
22	POLR2A	chr8:47522792-47522869	K562	blood:	n/a	n/a
23	POLR2A	chr8:47523719-47523728	K562	blood:	n/a	n/a
24	POLR2A	chr8:47506355-47513405	K562	blood:	n/a	n/a
25	POLR2A	chr8:47519756-47520949	K562	blood:	n/a	n/a
26	POLR2A	chr8:47509147-47509347	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr8:47517935-47518063	ProgFib	skin:	n/a	n/a
28	RFX5	chr8:47512992-47513136	K562	blood:	n/a	n/a
29	TBL1XR1	chr8:47526702-47526885	K562	blood:	n/a	n/a
30	ZNF143	chr8:47525743-47525930	K562	blood:	n/a	n/a
31	ZNF274	chr8:47508826-47509351	K562	blood:	n/a	n/a
32	ZNF274	chr8:47508814-47509352	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZNF384	chr8:47509286-47509308	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47526309-47526359	GM19239	blood:	n/a
2	chr8:47526309-47526359	RPTEC	kidney:	n/a
3	chr8:47526309-47526359	H1-hESC	embryonic stem cell:	embryo
4	chr8:47526309-47526359	U87	brain:	n/a
5	chr8:47526309-47526359	HIPEpiC	eye:	n/a
6	chr8:47526309-47526359	HCF	heart:	n/a
7	chr8:47526309-47526359	GM12878	blood:	n/a
8	chr8:47526309-47526359	MCF-7	breast:	n/a
9	chr8:47526309-47526359	SKMC	muscle:	n/a
10	chr8:47526309-47526359	MCF10A-Er-Src	breast:	n/a
11	chr8:47526309-47526359	HL-60	blood:	n/a
12	chr8:47526309-47526359	AG10803	skin:	n/a
13	chr8:47526309-47526359	ProgFib	skin:	n/a
14	chr8:47526309-47526359	SK-N-SH	brain:	n/a
15	chr8:47526309-47526359	IMR90	lung:	fetal
16	chr8:47526309-47526359	HPAEpiC	pulmonary alveolar:	n/a
17	chr8:47526309-47526359	HepG2	liver:	n/a
18	chr8:47526309-47526359	AoSMC	blood vessel:	n/a
19	chr8:47526309-47526359	HRCEpiC	kidney:	n/a
20	chr8:47526309-47526359	BE2_C	brain:	n/a
21	chr8:47526309-47526359	Caco-2	colon:	n/a
22	chr8:47526309-47526359	NB4	blood:	n/a
23	chr8:47526309-47526359	HEEpiC	esophagus:	n/a
24	chr8:47526309-47526359	HAEpiC	amniotic membrane:	n/a
25	chr8:47526309-47526359	SK-N-MC	brain:	n/a
26	chr8:47526309-47526359	AG09309	skin:	n/a
27	chr8:47526309-47526359	ovcar-3	ovarian:	n/a
28	chr8:47526309-47526359	T-47D	breast:	n/a
29	chr8:47526309-47526359	LNCaP	prostate:	n/a
30	chr8:47526309-47526359	PFSK-1	brain:	n/a
31	chr8:47526309-47526359	NT2-D1	testis:	n/a
32	chr8:47526309-47526359	HRPEpiC	eye:	n/a
33	chr8:47526309-47526359	BJ	skin:	n/a
34	chr8:47526309-47526359	GM12892	blood:	n/a
35	chr8:47526309-47526359	CMK	blood:	n/a
36	chr8:47526309-47526359	SK-N-SH_RA	brain:	n/a
37	chr8:47526309-47526359	NH-A	brain:	n/a
38	chr8:47526309-47526359	HEK293	kidney:	embryo
39	chr8:47526309-47526359	ECC-1	luminal epithelium:	n/a
40	chr8:47526309-47526359	HUVEC	blood vessel:	n/a
41	chr8:47526309-47526359	NHDF-neo	bronchial:	n/a
42	chr8:47526309-47526359	HNPCEpiC	eye:	n/a
43	chr8:47526309-47526359	AG09319	gingival:	n/a
44	chr8:47526309-47526359	HRE	kidney:	n/a
45	chr8:47526309-47526359	K562	blood:	n/a
46	chr8:47526309-47526359	PrEC	prostate:	n/a
47	chr8:47526309-47526359	AG04450	lung:	fetal
48	chr8:47526309-47526359	GM06990	blood:	n/a
49	chr8:47526309-47526359	HCPEpiC	choroid plexus:	n/a
50	chr8:47526309-47526359	Hela-S3	cervix:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:47512649..47514644-chr8:47529072..47530746,2	K562	blood:
2	chr8:47506585..47508657-chr8:47510206..47513067,2	K562	blood:
3	chr8:47515437..47518605-chr8:47528973..47530959,3	K562	blood:
4	chr8:47487702..47490248-chr8:47515594..47517867,2	K562	blood:
5	chr8:47517410..47521817-chr8:47524226..47528650,6	K562	blood:
6	chr8:47506585..47508657-chr8:47510206..47513067,2	K562	blood:
7	chr7:97495363..97496869-chr8:47517938..47519464,2	K562	blood:
8	chr8:47519082..47521588-chr8:47524616..47530066,4	K562	blood:

No data

Variant related genes	Relation type
ASNSP1	TF binding region
ASNSP1	CpG island
ENSG00000248498	chromatin interactions

Extended variants
information (count: 567 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376913377	chr8:47514207-47514208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370003420	chr8:47514211-47514212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373506248	chr8:47514229-47514230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79067176	chr8:47514280-47514281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201572379	chr8:47514308-47514309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560011100	chr8:47514312-47514313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4483169	chr8:47514596-47514597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75600954	chr8:47514876-47514877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528955136	chr8:47514987-47514988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542286526	chr8:47514994-47514995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562489323	chr8:47515042-47515043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556196889	chr8:47515043-47515044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531149562	chr8:47515070-47515071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554446754	chr8:47515151-47515152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568182195	chr8:47515290-47515291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9773686	chr8:47515314-47515315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570762881	chr8:47515315-47515316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533357209	chr8:47515316-47515317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546755394	chr8:47515378-47515379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9693304	chr8:47515543-47515544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566872551	chr8:47515556-47515557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9692834	chr8:47515571-47515572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535919388	chr8:47515579-47515580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191502535	chr8:47515688-47515689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568119779	chr8:47515706-47515707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377240847	chr8:47515717-47515718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370156284	chr8:47515748-47515749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374432479	chr8:47515777-47515778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367773164	chr8:47515840-47515841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372601054	chr8:47515864-47515865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9772436	chr8:47515865-47515866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs368279607	chr8:47515866-47515867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558094902	chr8:47515881-47515882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9693579	chr8:47515911-47515912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372539079	chr8:47515934-47515935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375219873	chr8:47515954-47515955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540456027	chr8:47515975-47515976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369545733	chr8:47515999-47516000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111403381	chr8:47516005-47516006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573689417	chr8:47516030-47516031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371760933	chr8:47516095-47516096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9694551	chr8:47516100-47516101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542697460	chr8:47516170-47516171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562390408	chr8:47516214-47516215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191618194	chr8:47516224-47516225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544563246	chr8:47516269-47516270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147946817	chr8:47516270-47516271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200588211	chr8:47516273-47516274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542502450	chr8:47516305-47516306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564454059	chr8:47516306-47516307	Weak transcription	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47514200-47518600	Weak transcription	K562	blood
2	chr8:47518600-47520200	Strong transcription	K562	blood
3	chr8:47520200-47525800	Weak transcription	K562	blood
4	chr8:47525800-47526000	Genic enhancers	K562	blood
5	chr8:47526000-47526200	Enhancers	K562	blood
6	chr8:47526200-47527000	Weak transcription	K562	blood
7	chr8:47527000-47529400	Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links