Variant report

Variant	rs527431345
Chromosome Location	chr4:47983660-47983661
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:47983620-47983670	HEEpiC	esophagus:	n/a
2	chr4:47983620-47983670	GM12878	blood:	n/a
3	chr4:47983620-47983670	GM12892	blood:	n/a
4	chr4:47983620-47983670	PANC-1	pancreas:	n/a
5	chr4:47983620-47983670	HRPEpiC	eye:	n/a
6	chr4:47983620-47983670	HCPEpiC	choroid plexus:	n/a
7	chr4:47983620-47983670	HCM	heart:	n/a
8	chr4:47983620-47983670	LNCaP	prostate:	n/a
9	chr4:47983620-47983670	HEK293	kidney:	embryo
10	chr4:47983620-47983670	SAEC	small airway:	n/a
11	chr4:47983620-47983670	GM19239	blood:	n/a
12	chr4:47983620-47983670	HepG2	liver:	n/a
13	chr4:47983620-47983670	PFSK-1	brain:	n/a
14	chr4:47983620-47983670	AG10803	skin:	n/a
15	chr4:47983620-47983670	PrEC	prostate:	n/a
16	chr4:47983620-47983670	HAEpiC	amniotic membrane:	n/a
17	chr4:47983620-47983670	HRCEpiC	kidney:	n/a
18	chr4:47983620-47983670	GM06990	blood:	n/a
19	chr4:47983620-47983670	BE2_C	brain:	n/a
20	chr4:47983620-47983670	NHBE	bronchial:	n/a
21	chr4:47983620-47983670	NH-A	brain:	n/a
22	chr4:47983620-47983670	AG09319	gingival:	n/a
23	chr4:47983620-47983670	MCF-7	breast:	n/a
24	chr4:47983620-47983670	HNPCEpiC	eye:	n/a
25	chr4:47983620-47983670	AoSMC	blood vessel:	n/a
26	chr4:47983620-47983670	SK-N-SH_RA	brain:	n/a
27	chr4:47983620-47983670	RPTEC	kidney:	n/a
28	chr4:47983620-47983670	GM12891	blood:	n/a
29	chr4:47983620-47983670	MCF10A-Er-Src	breast:	n/a
30	chr4:47983620-47983670	ovcar-3	ovarian:	n/a
31	chr4:47983620-47983670	NB4	blood:	n/a
32	chr4:47983620-47983670	AG04450	lung:	fetal
33	chr4:47983620-47983670	HL-60	blood:	n/a
34	chr4:47983620-47983670	HMEC	breast:	n/a
35	chr4:47983620-47983670	AG04449	skin:	fetal
36	chr4:47983620-47983670	ECC-1	luminal epithelium:	n/a
37	chr4:47983620-47983670	SKMC	muscle:	n/a
38	chr4:47983620-47983670	BJ	skin:	n/a
39	chr4:47983620-47983670	Jurkat	blood:	n/a
40	chr4:47983620-47983670	ProgFib	skin:	n/a
41	chr4:47983620-47983670	H1-hESC	embryonic stem cell:	embryo
42	chr4:47983620-47983670	HUVEC	blood vessel:	n/a
43	chr4:47983620-47983670	K562	blood:	n/a
44	chr4:47983620-47983670	HCF	heart:	n/a
45	chr4:47983620-47983670	T-47D	breast:	n/a
46	chr4:47983620-47983670	HCT-116	colon:	n/a
47	chr4:47983620-47983670	NT2-D1	testis:	n/a
48	chr4:47983620-47983670	Hela-S3	cervix:	n/a
49	chr4:47983620-47983670	HRE	kidney:	n/a
50	chr4:47983620-47983670	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
CNGA1	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013947	chr4:47915527-48052824	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537082	chr4:47915527-48052824	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1006745	chr4:47935250-48052824	Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537083	chr4:47935250-48052824	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1013163	chr4:47977844-48022511	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv537084	chr4:47977844-48022511	Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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
chromosomal regions: chr1:12345-34567

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