Variant report

Variant	rs7330545
Chromosome Location	chr13:92047450-92047451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZC3H11A	chr13:92047386-92047605	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:92047408-92047458	CMK	blood:	n/a
2	chr13:92047408-92047458	HCM	heart:	n/a
3	chr13:92047408-92047458	GM19239	blood:	n/a
4	chr13:92047408-92047458	T-47D	breast:	n/a
5	chr13:92047408-92047458	RPTEC	kidney:	n/a
6	chr13:92047408-92047458	HIPEpiC	eye:	n/a
7	chr13:92047408-92047458	IMR90	lung:	fetal
8	chr13:92047408-92047458	SK-N-MC	brain:	n/a
9	chr13:92047408-92047458	LNCaP	prostate:	n/a
10	chr13:92047408-92047458	NT2-D1	testis:	n/a
11	chr13:92047408-92047458	GM12878	blood:	n/a
12	chr13:92047408-92047458	HMEC	breast:	n/a
13	chr13:92047408-92047458	PFSK-1	brain:	n/a
14	chr13:92047408-92047458	SK-N-SH_RA	brain:	n/a
15	chr13:92047408-92047458	AG09309	skin:	n/a
16	chr13:92047408-92047458	Jurkat	blood:	n/a
17	chr13:92047408-92047458	AG09319	gingival:	n/a
18	chr13:92047408-92047458	GM06990	blood:	n/a
19	chr13:92047408-92047458	HPAEpiC	pulmonary alveolar:	n/a
20	chr13:92047408-92047458	Hepatocyte	liver:	n/a
21	chr13:92047408-92047458	K562	blood:	n/a
22	chr13:92047408-92047458	HEK293	kidney:	embryo
23	chr13:92047408-92047458	U87	brain:	n/a
24	chr13:92047408-92047458	BE2_C	brain:	n/a
25	chr13:92047408-92047458	NHDF-neo	bronchial:	n/a
26	chr13:92047408-92047458	ECC-1	luminal epithelium:	n/a
27	chr13:92047408-92047458	SK-N-SH	brain:	n/a
28	chr13:92047408-92047458	GM12892	blood:	n/a
29	chr13:92047408-92047458	AG04450	lung:	fetal
30	chr13:92047408-92047458	HepG2	liver:	n/a
31	chr13:92047408-92047458	AoSMC	blood vessel:	n/a
32	chr13:92047408-92047458	HRCEpiC	kidney:	n/a
33	chr13:92047408-92047458	HNPCEpiC	eye:	n/a
34	chr13:92047408-92047458	NH-A	brain:	n/a
35	chr13:92047408-92047458	ProgFib	skin:	n/a
36	chr13:92047408-92047458	HRE	kidney:	n/a
37	chr13:92047408-92047458	NHBE	bronchial:	n/a
38	chr13:92047408-92047458	HL-60	blood:	n/a
39	chr13:92047408-92047458	SAEC	small airway:	n/a
40	chr13:92047408-92047458	HCPEpiC	choroid plexus:	n/a
41	chr13:92047408-92047458	A549	lung:	n/a
42	chr13:92047408-92047458	HCF	heart:	n/a
43	chr13:92047408-92047458	ovcar-3	ovarian:	n/a
44	chr13:92047408-92047458	PANC-1	pancreas:	n/a
45	chr13:92047408-92047458	HAEpiC	amniotic membrane:	n/a
46	chr13:92047408-92047458	Hela-S3	cervix:	n/a
47	chr13:92047408-92047458	AG04449	skin:	fetal
48	chr13:92047408-92047458	HCT-116	colon:	n/a
49	chr13:92047408-92047458	Caco-2	colon:	n/a
50	chr13:92047408-92047458	AG10803	skin:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:91773876..91776229-chr13:92047390..92050096,2	K562	blood:
2	chr13:92046123..92048936-chr13:92098692..92101660,2	K562	blood:
3	chr13:91999733..92001450-chr13:92046195..92048832,2	MCF-7	breast:

No data

Variant related genes	Relation type
GPC5	TF binding region
GPC5	CpG island
ENSG00000215417	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1324062	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2224851	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7322083	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7328355	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9515923	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9523325	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9523328	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
2	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
3	esv1803618	chr13:91669587-92277699	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1945 gene(s)	inside rSNPs	diseases
4	nsv1050259	chr13:91759549-92152078	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
5	nsv541872	chr13:91759549-92152078	Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
6	nsv1049382	chr13:92024240-92521180	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv541873	chr13:92024240-92521180	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No data

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