Variant report

Variant	rs4894334
Chromosome Location	chr3:138725245-138725246
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
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	USF1	chr3:138725216-138725470	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:138725214-138725264	CMK	blood:	n/a
2	chr3:138725214-138725264	BE2_C	brain:	n/a
3	chr3:138725204-138725254	HUVEC	blood vessel:	n/a
4	chr3:138725204-138725254	HIPEpiC	eye:	n/a
5	chr3:138725204-138725254	AG09309	skin:	n/a
6	chr3:138725204-138725254	HMEC	breast:	n/a
7	chr3:138725204-138725254	GM12878	blood:	n/a
8	chr3:138725214-138725264	HAEpiC	amniotic membrane:	n/a
9	chr3:138725214-138725264	ECC-1	luminal epithelium:	n/a
10	chr3:138725204-138725254	T-47D	breast:	n/a
11	chr3:138725214-138725264	GM19239	blood:	n/a
12	chr3:138725204-138725254	SAEC	small airway:	n/a
13	chr3:138725214-138725264	RPTEC	kidney:	n/a
14	chr3:138725214-138725264	HUVEC	blood vessel:	n/a
15	chr3:138725204-138725254	SKMC	muscle:	n/a
16	chr3:138725204-138725254	SK-N-SH_RA	brain:	n/a
17	chr3:138725204-138725254	NHDF-neo	bronchial:	n/a
18	chr3:138725214-138725264	SAEC	small airway:	n/a
19	chr3:138725214-138725264	HEEpiC	esophagus:	n/a
20	chr3:138725214-138725264	GM06990	blood:	n/a
21	chr3:138725204-138725254	SK-N-SH	brain:	n/a
22	chr3:138725214-138725264	AoSMC	blood vessel:	n/a
23	chr3:138725204-138725254	GM06990	blood:	n/a
24	chr3:138725214-138725264	HMEC	breast:	n/a
25	chr3:138725204-138725254	ovcar-3	ovarian:	n/a
26	chr3:138725214-138725264	PANC-1	pancreas:	n/a
27	chr3:138725204-138725254	NB4	blood:	n/a
28	chr3:138725214-138725264	HRPEpiC	eye:	n/a
29	chr3:138725214-138725264	T-47D	breast:	n/a
30	chr3:138725204-138725254	PFSK-1	brain:	n/a
31	chr3:138725214-138725264	HEK293	kidney:	embryo
32	chr3:138725204-138725254	LNCaP	prostate:	n/a
33	chr3:138725214-138725264	BJ	skin:	n/a
34	chr3:138725214-138725264	SK-N-SH_RA	brain:	n/a
35	chr3:138725204-138725254	NH-A	brain:	n/a
36	chr3:138725204-138725254	BJ	skin:	n/a
37	chr3:138725204-138725254	MCF10A-Er-Src	breast:	n/a
38	chr3:138725214-138725264	HL-60	blood:	n/a
39	chr3:138725204-138725254	HRPEpiC	eye:	n/a
40	chr3:138725204-138725254	BE2_C	brain:	n/a
41	chr3:138725214-138725264	HCF	heart:	n/a
42	chr3:138725204-138725254	HNPCEpiC	eye:	n/a
43	chr3:138725214-138725264	NHBE	bronchial:	n/a
44	chr3:138725204-138725254	HepG2	liver:	n/a
45	chr3:138725214-138725264	Caco-2	colon:	n/a
46	chr3:138725214-138725264	HRE	kidney:	n/a
47	chr3:138725204-138725254	AG10803	skin:	n/a
48	chr3:138725214-138725264	GM12892	blood:	n/a
49	chr3:138725204-138725254	NT2-D1	testis:	n/a
50	chr3:138725214-138725264	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
PRR23A	TF binding region
PRR23A	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1039943	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1039944	0.90[EUR][1000 genomes]
rs1511412	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553877	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs191708	0.95[ASN][1000 genomes]
rs360701	0.91[EUR][1000 genomes]
rs643658	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv877542	chr3:138645013-138750904	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv591855	chr3:138720204-138742147	ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

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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