Variant report

Variant	rs1423392
Chromosome Location	chr5:41072808-41072809
allele	A/G
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	chr5:41072796-41072846	BJ	skin:	n/a
2	chr5:41072796-41072846	Jurkat	blood:	n/a
3	chr5:41072796-41072846	U87	brain:	n/a
4	chr5:41072796-41072846	NHBE	bronchial:	n/a
5	chr5:41072796-41072846	GM06990	blood:	n/a
6	chr5:41072796-41072846	GM19239	blood:	n/a
7	chr5:41072796-41072846	HepG2	liver:	n/a
8	chr5:41072796-41072846	HCF	heart:	n/a
9	chr5:41072796-41072846	IMR90	lung:	fetal
10	chr5:41072796-41072846	NB4	blood:	n/a
11	chr5:41072796-41072846	HIPEpiC	eye:	n/a
12	chr5:41072796-41072846	HPAEpiC	pulmonary alveolar:	n/a
13	chr5:41072796-41072846	ProgFib	skin:	n/a
14	chr5:41072796-41072846	AG10803	skin:	n/a
15	chr5:41072796-41072846	HCT-116	colon:	n/a
16	chr5:41072796-41072846	AG04450	lung:	fetal
17	chr5:41072796-41072846	LNCaP	prostate:	n/a
18	chr5:41072796-41072846	AG04449	skin:	fetal
19	chr5:41072796-41072846	PANC-1	pancreas:	n/a
20	chr5:41072796-41072846	Hela-S3	cervix:	n/a
21	chr5:41072796-41072846	PFSK-1	brain:	n/a
22	chr5:41072796-41072846	AG09319	gingival:	n/a
23	chr5:41072796-41072846	SK-N-MC	brain:	n/a
24	chr5:41072796-41072846	NH-A	brain:	n/a
25	chr5:41072796-41072846	ECC-1	luminal epithelium:	n/a
26	chr5:41072796-41072846	HL-60	blood:	n/a
27	chr5:41072796-41072846	HMEC	breast:	n/a
28	chr5:41072796-41072846	K562	blood:	n/a
29	chr5:41072796-41072846	HEK293	kidney:	embryo
30	chr5:41072796-41072846	HUVEC	blood vessel:	n/a
31	chr5:41072796-41072846	RPTEC	kidney:	n/a
32	chr5:41072796-41072846	HCM	heart:	n/a
33	chr5:41072796-41072846	HNPCEpiC	eye:	n/a
34	chr5:41072796-41072846	H1-hESC	embryonic stem cell:	embryo
35	chr5:41072796-41072846	SK-N-SH_RA	brain:	n/a
36	chr5:41072796-41072846	NT2-D1	testis:	n/a
37	chr5:41072796-41072846	T-47D	breast:	n/a
38	chr5:41072796-41072846	HAEpiC	amniotic membrane:	n/a
39	chr5:41072796-41072846	AoSMC	blood vessel:	n/a
40	chr5:41072796-41072846	ovcar-3	ovarian:	n/a
41	chr5:41072796-41072846	CMK	blood:	n/a
42	chr5:41072796-41072846	HRCEpiC	kidney:	n/a
43	chr5:41072796-41072846	PrEC	prostate:	n/a
44	chr5:41072796-41072846	HCPEpiC	choroid plexus:	n/a
45	chr5:41072796-41072846	BE2_C	brain:	n/a
46	chr5:41072796-41072846	SK-N-SH	brain:	n/a
47	chr5:41072796-41072846	SKMC	muscle:	n/a
48	chr5:41072796-41072846	A549	lung:	n/a
49	chr5:41072796-41072846	GM12891	blood:	n/a
50	chr5:41072796-41072846	MCF-7	breast:	n/a

No data

Variant related genes	Relation type
MROH2B	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1423394	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1423405	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1423406	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1582549	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1833864	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1895428	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs325878	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs325879	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4957368	0.84[ASN][1000 genomes]
rs6864243	0.86[CHB][hapmap]
rs7726982	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1423392	C5orf34	cis	parietal	SCAN

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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