Variant report

Variant	rs9496563
Chromosome Location	chr6:143616271-143616272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143578191..143580326-chr6:143614788..143617612,2	K562	blood:
2	chr6:143612544..143614515-chr6:143615465..143617568,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10080658	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437539	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17072327	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17072448	1.00[ASN][1000 genomes]
rs2146300	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28537733	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4467794	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55790446	1.00[ASN][1000 genomes]
rs56827403	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56884593	1.00[ASN][1000 genomes]
rs57184543	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57498557	1.00[ASN][1000 genomes]
rs59134343	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59572336	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59940435	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570553	1.00[ASN][1000 genomes]
rs6570554	1.00[MEX][hapmap]
rs6935733	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73594139	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73594165	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7771499	0.93[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9484726	1.00[ASN][1000 genomes]
rs9484727	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9484732	1.00[ASN][1000 genomes]
rs9484734	1.00[ASN][1000 genomes]
rs9484738	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496536	1.00[MEX][hapmap]
rs9496544	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496547	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496548	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496550	1.00[ASN][1000 genomes]
rs9496551	1.00[ASN][1000 genomes]
rs9496562	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496564	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496579	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9496580	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496581	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496583	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496586	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496590	1.00[ASN][1000 genomes]
rs9496595	1.00[ASN][1000 genomes]
rs9496596	1.00[ASN][1000 genomes]
rs9496599	1.00[ASN][1000 genomes]
rs9496604	1.00[ASN][1000 genomes]
rs9496608	1.00[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	esv16462	chr6:143615919-143619253	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9496563	AIG1	cis	multi-tissue	Pritchard

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143598600-143620200	Weak transcription	Brain Angular Gyrus	brain
2	chr6:143603200-143616800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:143603200-143622200	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:143605600-143622000	Weak transcription	HepG2	liver
5	chr6:143607600-143622200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:143608400-143620800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:143608600-143620800	Weak transcription	Left Ventricle	heart
8	chr6:143608600-143624200	Weak transcription	Aorta	Aorta
9	chr6:143608800-143619800	Weak transcription	HMEC	breast
10	chr6:143608800-143624200	Weak transcription	Ovary	ovary
11	chr6:143608800-143629400	Weak transcription	NHEK	skin
12	chr6:143609400-143622400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:143609800-143621000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:143610000-143626000	Weak transcription	Fetal Intestine Large	intestine
15	chr6:143611200-143616800	Strong transcription	Liver	Liver
16	chr6:143612200-143617000	Weak transcription	Lung	lung
17	chr6:143613800-143624400	Weak transcription	Fetal Intestine Small	intestine
18	chr6:143615200-143616400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:143615400-143616800	Strong transcription	K562	blood
20	chr6:143615400-143643400	Weak transcription	HSMM	muscle

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