Variant report

Variant	rs72748518
Chromosome Location	chr1:212059221-212059222
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212054616..212057086-chr1:212058448..212060459,2	K562	blood:
2	chr1:212050300..212053150-chr1:212058245..212060178,3	K562	blood:
3	chr1:212055586..212057694-chr1:212058396..212059948,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1065607	0.95[EUR][1000 genomes]
rs10863931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11119812	0.92[EUR][1000 genomes]
rs11119814	0.95[EUR][1000 genomes]
rs11119816	0.95[EUR][1000 genomes]
rs11119823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1126968	0.92[EUR][1000 genomes]
rs12119787	0.92[EUR][1000 genomes]
rs12120603	0.95[EUR][1000 genomes]
rs12122086	0.95[EUR][1000 genomes]
rs12122929	0.92[EUR][1000 genomes]
rs12123135	0.95[EUR][1000 genomes]
rs12123189	0.95[EUR][1000 genomes]
rs12123889	0.92[EUR][1000 genomes]
rs12125042	0.95[EUR][1000 genomes]
rs12126667	0.95[EUR][1000 genomes]
rs12126742	0.95[EUR][1000 genomes]
rs12128147	0.95[EUR][1000 genomes]
rs12128221	0.92[EUR][1000 genomes]
rs12129315	0.95[EUR][1000 genomes]
rs12129362	0.95[EUR][1000 genomes]
rs12129627	0.92[EUR][1000 genomes]
rs12131727	0.93[EUR][1000 genomes]
rs12134302	0.95[EUR][1000 genomes]
rs12136792	0.95[EUR][1000 genomes]
rs12138188	0.95[EUR][1000 genomes]
rs12138283	0.93[EUR][1000 genomes]
rs12139254	0.93[EUR][1000 genomes]
rs12139319	0.95[EUR][1000 genomes]
rs12139336	0.92[EUR][1000 genomes]
rs12142878	0.95[EUR][1000 genomes]
rs12144072	0.92[EUR][1000 genomes]
rs12144745	0.92[EUR][1000 genomes]
rs12145346	0.92[EUR][1000 genomes]
rs12145721	0.95[EUR][1000 genomes]
rs12562791	0.95[EUR][1000 genomes]
rs12562933	0.89[EUR][1000 genomes]
rs12563633	0.95[EUR][1000 genomes]
rs12564498	0.95[EUR][1000 genomes]
rs12565318	0.95[EUR][1000 genomes]
rs12565546	0.95[EUR][1000 genomes]
rs12566620	0.92[EUR][1000 genomes]
rs12568179	0.95[EUR][1000 genomes]
rs17018028	0.92[EUR][1000 genomes]
rs17018048	0.90[EUR][1000 genomes]
rs17042024	0.92[EUR][1000 genomes]
rs2298095	0.92[EUR][1000 genomes]
rs28695463	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4132401	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4364936	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55648545	0.95[EUR][1000 genomes]
rs55687837	0.95[EUR][1000 genomes]
rs55794431	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55836176	0.95[EUR][1000 genomes]
rs55843903	0.92[EUR][1000 genomes]
rs56028546	0.95[EUR][1000 genomes]
rs56074728	0.95[EUR][1000 genomes]
rs56160062	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56225609	0.92[EUR][1000 genomes]
rs56295475	0.92[EUR][1000 genomes]
rs56318540	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746513	0.92[EUR][1000 genomes]
rs72746521	0.92[EUR][1000 genomes]
rs72746525	0.92[EUR][1000 genomes]
rs72746529	0.92[EUR][1000 genomes]
rs72746531	0.89[EUR][1000 genomes]
rs72746535	0.92[EUR][1000 genomes]
rs72746563	0.95[EUR][1000 genomes]
rs72746569	0.95[EUR][1000 genomes]
rs72746572	0.97[EUR][1000 genomes]
rs72746579	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72746583	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72747044	0.90[EUR][1000 genomes]
rs72747049	0.92[EUR][1000 genomes]
rs72748525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	esv2762218	chr1:212046447-212087682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212056400-212059400	Weak transcription	GM12878-XiMat	blood
2	chr1:212057800-212059400	Enhancers	HepG2	liver
3	chr1:212058400-212061800	Enhancers	Liver	Liver
4	chr1:212059000-212059600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:212059000-212059800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:212059200-212059400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:212059200-212059600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:212059200-212059800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:212059200-212060200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:212059200-212061000	Enhancers	Fetal Intestine Large	intestine
11	chr1:212059200-212061800	Enhancers	Adipose Nuclei	Adipose

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