Variant report

Variant	nsv972648
Chromosome Location	chr9:9090657-9091667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr9:9091402-9091725	HepG2	liver:	n/a	chr9:9091574-9091592
2	MAFK	chr9:9091403-9091754	HepG2	liver:	n/a	chr9:9091575-9091590
3	MAFK	chr9:9091448-9091758	HepG2	liver:	n/a	chr9:9091575-9091590
4	REST	chr9:9091524-9091660	HepG2	liver:	n/a	n/a
5	REST	chr9:9091487-9091655	Hela-S3	cervix:	n/a	n/a
6	REST	chr9:9091373-9091833	MCF-7	breast:	n/a	n/a
7	REST	chr9:9091513-9091652	HepG2	liver:	n/a	n/a
8	REST	chr9:9091390-9091781	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr9:9091361-9091845	ECC-1	luminal epithelium:	n/a	n/a
10	REST	chr9:9091528-9091671	K562	blood:	n/a	n/a
11	REST	chr9:9091443-9091716	HepG2	liver:	n/a	n/a
12	REST	chr9:9091452-9091689	U87	brain:	n/a	n/a
13	REST	chr9:9091490-9091671	SK-N-SH	brain:	n/a	n/a
14	REST	chr9:9091370-9091766	HepG2	liver:	n/a	n/a
15	REST	chr9:9091303-9091963	HL-60	blood:	n/a	n/a
16	REST	chr9:9091479-9091711	SK-N-SH	brain:	n/a	n/a
17	REST	chr9:9091475-9091669	GM12878	blood:	n/a	n/a
18	REST	chr9:9091406-9091694	A549	lung:	n/a	n/a
19	REST	chr9:9091499-9091681	PFSK-1	brain:	n/a	n/a
20	REST	chr9:9091388-9091808	H1-hESC	embryonic stem cell:	n/a	n/a
21	REST	chr9:9091512-9091694	K562	blood:	n/a	n/a
22	REST	chr9:9091414-9091809	HL-60	blood:	n/a	n/a
23	REST	chr9:9091448-9091735	PFSK-1	brain:	n/a	n/a
24	REST	chr9:9091369-9091858	PFSK-1	brain:	n/a	n/a
25	REST	chr9:9091354-9091800	ECC-1	luminal epithelium:	n/a	n/a
26	REST	chr9:9091450-9091691	U87	brain:	n/a	n/a
27	REST	chr9:9091428-9091700	Hela-S3	cervix:	n/a	n/a
28	REST	chr9:9091393-9091707	PFSK-1	brain:	n/a	n/a
29	REST	chr9:9091421-9091808	MCF-7	breast:	n/a	n/a
30	ZNF143	chr9:9091568-9091745	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:9091180-9091230	SK-N-MC	brain:	n/a
2	chr9:9091180-9091230	NHDF-neo	bronchial:	n/a
3	chr9:9091180-9091230	HRCEpiC	kidney:	n/a
4	chr9:9091180-9091230	SK-N-SH_RA	brain:	n/a
5	chr9:9091180-9091230	ECC-1	luminal epithelium:	n/a
6	chr9:9091180-9091230	GM06990	blood:	n/a
7	chr9:9091180-9091230	ovcar-3	ovarian:	n/a
8	chr9:9091180-9091230	H1-hESC	embryonic stem cell:	embryo
9	chr9:9091180-9091230	Hepatocyte	liver:	n/a
10	chr9:9091180-9091230	HCT-116	colon:	n/a
11	chr9:9091180-9091230	AoSMC	blood vessel:	n/a
12	chr9:9091180-9091230	HCF	heart:	n/a
13	chr9:9091180-9091230	SKMC	muscle:	n/a
14	chr9:9091180-9091230	K562	blood:	n/a
15	chr9:9091180-9091230	AG09319	gingival:	n/a
16	chr9:9091180-9091230	ProgFib	skin:	n/a
17	chr9:9091180-9091230	HEEpiC	esophagus:	n/a
18	chr9:9091180-9091230	NB4	blood:	n/a
19	chr9:9091180-9091230	A549	lung:	n/a
20	chr9:9091180-9091230	HUVEC	blood vessel:	n/a
21	chr9:9091180-9091230	T-47D	breast:	n/a
22	chr9:9091180-9091230	HEK293	kidney:	embryo
23	chr9:9091180-9091230	GM12878	blood:	n/a
24	chr9:9091180-9091230	NT2-D1	testis:	n/a
25	chr9:9091180-9091230	MCF-7	breast:	n/a
26	chr9:9091180-9091230	NH-A	brain:	n/a
27	chr9:9091180-9091230	HMEC	breast:	n/a
28	chr9:9091180-9091230	HepG2	liver:	n/a
29	chr9:9091180-9091230	HIPEpiC	eye:	n/a
30	chr9:9091180-9091230	HAEpiC	amniotic membrane:	n/a
31	chr9:9091180-9091230	PrEC	prostate:	n/a
32	chr9:9091180-9091230	Hela-S3	cervix:	n/a
33	chr9:9091180-9091230	PANC-1	pancreas:	n/a
34	chr9:9091180-9091230	PFSK-1	brain:	n/a
35	chr9:9091180-9091230	AG04449	skin:	fetal
36	chr9:9091180-9091230	HCM	heart:	n/a
37	chr9:9091180-9091230	Caco-2	colon:	n/a
38	chr9:9091180-9091230	GM12891	blood:	n/a
39	chr9:9091180-9091230	RPTEC	kidney:	n/a
40	chr9:9091180-9091230	NHBE	bronchial:	n/a
41	chr9:9091180-9091230	IMR90	lung:	fetal
42	chr9:9091180-9091230	HCPEpiC	choroid plexus:	n/a
43	chr9:9091180-9091230	LNCaP	prostate:	n/a
44	chr9:9091180-9091230	GM12892	blood:	n/a
45	chr9:9091180-9091230	U87	brain:	n/a
46	chr9:9091180-9091230	HRE	kidney:	n/a
47	chr9:9091180-9091230	GM19239	blood:	n/a
48	chr9:9091180-9091230	BE2_C	brain:	n/a
49	chr9:9091180-9091230	CMK	blood:	n/a
50	chr9:9091180-9091230	Jurkat	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56435690..56436195-chr9:9090395..9091395,2	HCT-116	colon:
2	chr12:56435752..56436286-chr9:9090373..9090875,2	MCF-7	breast:
3	chr12:56434264..56436145-chr9:9090873..9092394,2	K562	blood:
4	chr12:56435572..56436393-chr9:9090873..9091393,3	MCF-7	breast:
5	chr12:56434645..56437118-chr9:9089375..9092373,2	K562	blood:

No data

Variant related genes	Relation type
RPS26P3	TF binding region
RPS26P3	CpG island
ENSG00000197728	chromatin interactions
ENSG00000257449	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 110 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61519553	chr9:9090670-9090671	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535595613	chr9:9090682-9090683	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574723425	chr9:9090787-9090788	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs145846086	chr9:9090814-9090815	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539602678	chr9:9090823-9090824	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs7864207	chr9:9090834-9090835	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576306401	chr9:9090853-9090854	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs543692964	chr9:9090855-9090856	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs324466	chr9:9090876-9090877	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188422115	chr9:9090882-9090883	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs193209771	chr9:9090887-9090888	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs149008097	chr9:9090899-9090900	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs532854535	chr9:9090925-9090926	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552761190	chr9:9090958-9090959	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs564478107	chr9:9090961-9090962	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs531894576	chr9:9091025-9091026	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs550055507	chr9:9091026-9091027	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs568165199	chr9:9091035-9091036	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs535433335	chr9:9091050-9091051	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs547516958	chr9:9091063-9091064	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566178806	chr9:9091068-9091069	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs376369705	chr9:9091069-9091070	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs557934361	chr9:9091074-9091075	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs576114314	chr9:9091082-9091083	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs537383464	chr9:9091114-9091115	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs555695825	chr9:9091128-9091129	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs573715279	chr9:9091133-9091134	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs148137728	chr9:9091180-9091181	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559059213	chr9:9091184-9091185	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201505839	chr9:9091208-9091209	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs544739765	chr9:9091214-9091215	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs9696480	chr9:9091228-9091229	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531788498	chr9:9091231-9091232	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550086433	chr9:9091268-9091269	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs377708328	chr9:9091278-9091279	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs575802385	chr9:9091286-9091287	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs199555081	chr9:9091314-9091315	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs547789428	chr9:9091323-9091324	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs565886655	chr9:9091341-9091342	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs539930286	chr9:9091352-9091353	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs551575246	chr9:9091368-9091369	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs185554437	chr9:9091387-9091388	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs537228021	chr9:9091425-9091426	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs61192231	chr9:9091427-9091428	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs567589541	chr9:9091452-9091453	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs189208092	chr9:9091520-9091521	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs74951534	chr9:9091569-9091570	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs73395837	chr9:9091638-9091639	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs539876444	chr9:9091640-9091641	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs556761681	chr9:9091649-9091650	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links