Variant report

Variant	rs4910751
Chromosome Location	chr11:5346183-5346184
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	chr11:5346163-5346213	AG10803	skin:	n/a
2	chr11:5346163-5346213	MCF10A-Er-Src	breast:	n/a
3	chr11:5346163-5346213	HCPEpiC	choroid plexus:	n/a
4	chr11:5346163-5346213	NH-A	brain:	n/a
5	chr11:5346163-5346213	GM12878	blood:	n/a
6	chr11:5346163-5346213	PANC-1	pancreas:	n/a
7	chr11:5346163-5346213	SK-N-SH	brain:	n/a
8	chr11:5346163-5346213	HNPCEpiC	eye:	n/a
9	chr11:5346163-5346213	HPAEpiC	pulmonary alveolar:	n/a
10	chr11:5346163-5346213	T-47D	breast:	n/a
11	chr11:5346163-5346213	SKMC	muscle:	n/a
12	chr11:5346163-5346213	HRE	kidney:	n/a
13	chr11:5346163-5346213	MCF-7	breast:	n/a
14	chr11:5346163-5346213	AG04450	lung:	fetal
15	chr11:5346163-5346213	Jurkat	blood:	n/a
16	chr11:5346163-5346213	Caco-2	colon:	n/a
17	chr11:5346163-5346213	HCF	heart:	n/a
18	chr11:5346163-5346213	U87	brain:	n/a
19	chr11:5346163-5346213	HRPEpiC	eye:	n/a
20	chr11:5346163-5346213	HCM	heart:	n/a
21	chr11:5346163-5346213	BJ	skin:	n/a
22	chr11:5346163-5346213	AoSMC	blood vessel:	n/a
23	chr11:5346163-5346213	H1-hESC	embryonic stem cell:	embryo
24	chr11:5346163-5346213	Hepatocyte	liver:	n/a
25	chr11:5346163-5346213	ECC-1	luminal epithelium:	n/a
26	chr11:5346163-5346213	NB4	blood:	n/a
27	chr11:5346163-5346213	ovcar-3	ovarian:	n/a
28	chr11:5346163-5346213	PrEC	prostate:	n/a
29	chr11:5346163-5346213	LNCaP	prostate:	n/a
30	chr11:5346163-5346213	HIPEpiC	eye:	n/a
31	chr11:5346163-5346213	HAEpiC	amniotic membrane:	n/a
32	chr11:5346163-5346213	NHBE	bronchial:	n/a
33	chr11:5346163-5346213	GM12891	blood:	n/a
34	chr11:5346163-5346213	CMK	blood:	n/a
35	chr11:5346163-5346213	HMEC	breast:	n/a
36	chr11:5346163-5346213	K562	blood:	n/a
37	chr11:5346163-5346213	BE2_C	brain:	n/a
38	chr11:5346163-5346213	SAEC	small airway:	n/a
39	chr11:5346163-5346213	ProgFib	skin:	n/a
40	chr11:5346163-5346213	HRCEpiC	kidney:	n/a
41	chr11:5346163-5346213	NHDF-neo	bronchial:	n/a
42	chr11:5346163-5346213	PFSK-1	brain:	n/a
43	chr11:5346163-5346213	A549	lung:	n/a
44	chr11:5346163-5346213	GM19239	blood:	n/a
45	chr11:5346163-5346213	SK-N-MC	brain:	n/a
46	chr11:5346163-5346213	AG09309	skin:	n/a
47	chr11:5346163-5346213	RPTEC	kidney:	n/a
48	chr11:5346163-5346213	IMR90	lung:	fetal
49	chr11:5346163-5346213	HEEpiC	esophagus:	n/a
50	chr11:5346163-5346213	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
OR51B2	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10160815	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11036814	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12275403	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12283931	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12796383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12802320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35144837	0.86[ASN][1000 genomes]
rs36079658	0.86[ASN][1000 genomes]
rs4910747	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4910748	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7946626	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524400	chr11:5328361-5416622	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
3	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4910751	NAP1L4	cis	parietal	SCAN
rs4910751	OR5P3	cis	cerebellum	SCAN
rs4910751	KRTAP5-1	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5345400-5352000	Weak transcription	Aorta	Aorta
2	chr11:5345600-5351800	Weak transcription	K562	blood

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