Variant report

Variant	rs2480346
Chromosome Location	chr10:25759067-25759068
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	chr10:25758095..25760842-chr10:25796322..25798852,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10450325	1.00[CHD][hapmap]
rs10764555	1.00[ASN][1000 genomes]
rs11014507	1.00[CHD][hapmap]
rs11014622	1.00[ASN][1000 genomes]
rs11014623	1.00[ASN][1000 genomes]
rs11014625	1.00[ASN][1000 genomes]
rs12355530	1.00[ASN][1000 genomes]
rs12357174	1.00[ASN][1000 genomes]
rs1329249	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs1329250	1.00[ASN][1000 genomes]
rs1329254	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1335197	1.00[ASN][1000 genomes]
rs1360124	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1410930	0.96[CEU][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547685	0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17557337	1.00[ASN][1000 genomes]
rs17557638	1.00[ASN][1000 genomes]
rs1773635	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1928364	0.96[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1954261	1.00[CHD][hapmap]
rs1999111	0.83[CEU][hapmap];1.00[ASN][1000 genomes]
rs2480350	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987837	1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005186	0.83[CEU][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3005188	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.94[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005190	1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3005192	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118971	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4237372	1.00[ASN][1000 genomes]
rs4237374	1.00[ASN][1000 genomes]
rs4523593	1.00[ASN][1000 genomes]
rs4747532	1.00[ASN][1000 genomes]
rs4747533	1.00[ASN][1000 genomes]
rs4749050	1.00[ASN][1000 genomes]
rs5004466	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55945306	1.00[ASN][1000 genomes]
rs56386940	1.00[ASN][1000 genomes]
rs58949541	1.00[ASN][1000 genomes]
rs59190298	1.00[ASN][1000 genomes]
rs61846881	1.00[ASN][1000 genomes]
rs6482497	1.00[ASN][1000 genomes]
rs6482498	1.00[ASN][1000 genomes]
rs702978	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs702979	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091731	1.00[ASN][1000 genomes]
rs722969	1.00[ASN][1000 genomes]
rs7904866	1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[ASN][1000 genomes]
rs7921299	1.00[ASN][1000 genomes]
rs7921635	1.00[ASN][1000 genomes]
rs824606	1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs824611	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs824612	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs866089	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs866869	1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];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	esv3349863	chr10:25614571-25946379	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2480346	APBB1IP	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25756800-25775000	Weak transcription	K562	blood
2	chr10:25757200-25759400	Weak transcription	Placenta	Placenta
3	chr10:25757200-25769600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr10:25758200-25759200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr10:25758200-25759200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:25759000-25759800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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