Variant report

Variant	rs12422704
Chromosome Location	chr12:4871455-4871456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4864992..4867674-chr12:4869599..4872090,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10744660	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs10849123	0.80[ASN][1000 genomes]
rs10849125	0.82[CEU][hapmap]
rs10849127	0.82[CEU][hapmap]
rs10849130	0.85[CEU][hapmap]
rs10849131	0.82[CEU][hapmap]
rs10849134	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs10849137	0.81[EUR][1000 genomes]
rs10849138	0.84[YRI][hapmap]
rs10849143	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs11063314	0.82[CEU][hapmap]
rs11063319	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs11063323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11063331	0.81[EUR][1000 genomes]
rs12296205	0.82[CEU][hapmap]
rs12312983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes]
rs12320374	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1468556	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs1860347	0.86[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2191157	0.80[ASW][hapmap];0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs2286578	0.82[CEU][hapmap]
rs2286580	1.00[ASW][hapmap];0.82[CEU][hapmap];0.84[LWK][hapmap];0.85[MKK][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2359466	0.82[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2359467	1.00[ASW][hapmap];0.82[CEU][hapmap];0.93[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3782740	0.82[CEU][hapmap]
rs3782741	0.82[CEU][hapmap]
rs3782743	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4766284	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs4766285	0.81[ASN][1000 genomes]
rs4766286	0.82[CEU][hapmap]
rs6489564	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs6489565	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6489566	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6489567	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7132030	0.82[CEU][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7132150	0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs7297290	0.84[EUR][1000 genomes]
rs7305387	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7305525	1.00[ASW][hapmap];0.82[CEU][hapmap];0.93[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7311675	0.82[YRI][hapmap]
rs7315211	0.84[YRI][hapmap]
rs7316209	0.82[CEU][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7953170	0.82[CEU][hapmap]
rs7975978	0.82[CEU][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7976011	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7979891	0.88[ASN][1000 genomes]
rs929481	0.84[EUR][1000 genomes]
rs9300304	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1054218	chr12:4819576-4882667	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12422704	FGF23	cis	parietal	SCAN
rs12422704	CLEC6A	cis	cerebellum	SCAN
rs12422704	LOC653113	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4836400-4872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:4845000-4872600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:4852400-4872400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:4854200-4876000	Weak transcription	Fetal Brain Male	brain
5	chr12:4864600-4872200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:4867200-4880200	Weak transcription	Spleen	Spleen
7	chr12:4867400-4872600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:4867600-4872400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:4867800-4872200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:4868200-4874400	Weak transcription	Left Ventricle	heart
11	chr12:4868800-4874600	Weak transcription	Right Ventricle	heart
12	chr12:4869000-4875400	Weak transcription	Fetal Stomach	stomach
13	chr12:4869600-4873600	Strong transcription	Brain Germinal Matrix	brain
14	chr12:4869600-4875600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:4869800-4884200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:4871000-4872600	Weak transcription	Fetal Brain Female	brain
17	chr12:4871200-4874400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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