Variant report

Variant	rs1548651
Chromosome Location	chr12:68360300-68360301
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	chr12:68355362..68357559-chr12:68358486..68360884,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYRK2-2	chr12:68359719-68360818	XLOC_009793
2	lnc-DYRK2-2	chr12:68359718-68360818	NONHSAT029273
3	lnc-DYRK2-2	chr12:68359718-68360818	FPKM1_group_6440_transcript_1

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10748092	1.00[ASN][1000 genomes]
rs10784659	0.89[AFR][1000 genomes]
rs10784660	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10784661	0.98[ASN][1000 genomes]
rs10784662	0.98[ASN][1000 genomes]
rs10784664	0.92[ASN][1000 genomes]
rs10878702	0.86[AFR][1000 genomes]
rs10878705	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10878708	0.98[ASN][1000 genomes]
rs10878709	0.98[ASN][1000 genomes]
rs10878710	0.98[ASN][1000 genomes]
rs10878711	0.99[ASN][1000 genomes]
rs10878717	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10878722	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11176965	0.85[AFR][1000 genomes]
rs11176970	0.98[ASN][1000 genomes]
rs11176971	0.98[ASN][1000 genomes]
rs11176976	1.00[ASN][1000 genomes]
rs11176977	1.00[ASN][1000 genomes]
rs12228138	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1548650	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548652	1.00[ASN][1000 genomes]
rs1548653	1.00[ASN][1000 genomes]
rs1860007	1.00[ASN][1000 genomes]
rs1905452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2097999	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2190735	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2839995	1.00[ASN][1000 genomes]
rs2870964	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4141136	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4913266	0.89[AFR][1000 genomes]
rs4913386	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56229556	0.89[AFR][1000 genomes]
rs6581784	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310108	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7312407	0.94[AFR][1000 genomes]
rs7954182	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7959275	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7962230	1.00[ASN][1000 genomes]
rs7965959	0.98[ASN][1000 genomes]
rs7979547	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7980416	0.88[AFR][1000 genomes]

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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68356200-68363200	Weak transcription	Psoas Muscle	Psoas
2	chr12:68356200-68370600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:68359200-68363000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:68359200-68363200	Weak transcription	HSMM	muscle
5	chr12:68359600-68362000	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:68360000-68361000	Enhancers	Colon Smooth Muscle	Colon
7	chr12:68360000-68361200	Enhancers	GM12878-XiMat	blood
8	chr12:68360200-68361200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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