Variant report

Variant	rs7567017
Chromosome Location	chr2:73596270-73596271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr2:73595888-73596328	K562	blood:	n/a	n/a
2	EP300	chr2:73595681-73596279	K562	blood:	n/a	n/a
3	ATF1	chr2:73595903-73596308	K562	blood:	n/a	n/a
4	CEBPD	chr2:73595870-73596334	K562	blood:	n/a	n/a
5	GATA1	chr2:73595656-73596290	PBDE	blood:	n/a	chr2:73595795-73595805 chr2:73595795-73595802 chr2:73595795-73595802 chr2:73595795-73595802
6	NFE2	chr2:73595980-73596318	K562	blood:	n/a	chr2:73596146-73596161
7	CEBPB	chr2:73595878-73596295	K562	blood:	n/a	n/a
8	TBL1XR1	chr2:73595902-73596270	K562	blood:	n/a	n/a
9	MAFK	chr2:73595871-73596314	K562	blood:	n/a	n/a
10	CEBPB	chr2:73595897-73596293	K562	blood:	n/a	n/a
11	TEAD4	chr2:73595820-73596309	K562	blood:	n/a	n/a
12	JUN	chr2:73595778-73596357	K562	blood:	n/a	chr2:73595838-73595847
13	GATA1	chr2:73595367-73596385	K562	blood:	n/a	chr2:73595795-73595805 chr2:73595795-73595802 chr2:73595795-73595802 chr2:73595795-73595802
14	JUND	chr2:73595868-73596301	K562	blood:	n/a	n/a
15	JUN	chr2:73595879-73596305	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73596191..73598481-chr2:73612504..73614239,2	K562	blood:
2	chr2:73590790..73592935-chr2:73594185..73596507,2	K562	blood:

Variant related genes	Relation type
ENSG00000214484	TF binding region
ENSG00000116127	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10165862	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10175529	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10206188	0.82[ASN][1000 genomes]
rs11126395	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11126396	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11126399	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11693531	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11898362	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12465867	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1403412	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1522926	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1851546	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1852644	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2091022	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2901437	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35885918	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6546824	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6546826	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6546827	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6546829	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6706235	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6706409	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6710659	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6716776	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6728128	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747145	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6748040	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7560272	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7567343	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7573275	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7576824	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7604588	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7567017	ALMS1P	cis	Whole Blood	GTEx
rs7567017	ALMS1	cis	Whole Blood	GTEx
rs7567017	ALMS1P	cis	Thyroid	GTEx
rs7567017	ALMS1	Cis_1M	lymphoblastoid	RTeQTL
rs7567017	TPRKB	Cis_1M	lymphoblastoid	RTeQTL
rs7567017	ALMS1P	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73595800-73596600	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links