Variant report

Variant	rs4768221
Chromosome Location	chr12:40597545-40597546
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40597517..40600322-chr12:40605533..40608551,3	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1031996	0.82[ASN][1000 genomes]
rs10748014	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10784386	0.82[ASN][1000 genomes]
rs10784428	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878220	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10878222	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10878224	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878262	0.82[AFR][1000 genomes]
rs11175326	0.82[ASN][1000 genomes]
rs11175327	0.83[ASN][1000 genomes]
rs11175656	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12827541	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1388587	0.83[ASN][1000 genomes]
rs1388589	0.84[ASN][1000 genomes]
rs1388590	0.84[ASN][1000 genomes]
rs1463719	0.83[ASN][1000 genomes]
rs1463720	0.83[ASN][1000 genomes]
rs1482284	0.81[ASN][1000 genomes]
rs1491927	0.88[ASN][1000 genomes]
rs1491928	0.83[ASN][1000 genomes]
rs1491929	0.86[ASN][1000 genomes]
rs1491931	0.84[ASN][1000 genomes]
rs1602578	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1844921	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1844922	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1873611	0.81[ASN][1000 genomes]
rs1873612	0.87[ASN][1000 genomes]
rs1873613	0.81[ASN][1000 genomes]
rs1948380	0.88[ASN][1000 genomes]
rs2131082	0.86[ASN][1000 genomes]
rs2131083	0.86[ASN][1000 genomes]
rs2201143	0.86[ASN][1000 genomes]
rs2220677	0.86[ASN][1000 genomes]
rs2248928	0.83[ASN][1000 genomes]
rs2249010	0.83[ASN][1000 genomes]
rs2249017	0.83[ASN][1000 genomes]
rs2638245	0.90[ASN][1000 genomes]
rs2638249	0.88[ASN][1000 genomes]
rs2638251	0.87[ASN][1000 genomes]
rs2638252	0.83[ASN][1000 genomes]
rs2638253	0.83[ASN][1000 genomes]
rs2638254	0.88[ASN][1000 genomes]
rs2638257	0.87[ASN][1000 genomes]
rs2638258	0.87[ASN][1000 genomes]
rs2638259	0.84[ASN][1000 genomes]
rs2638260	0.84[ASN][1000 genomes]
rs2638262	0.84[ASN][1000 genomes]
rs2638263	0.84[ASN][1000 genomes]
rs2638264	0.84[ASN][1000 genomes]
rs2638266	0.84[ASN][1000 genomes]
rs2708464	0.85[ASN][1000 genomes]
rs2708466	0.85[ASN][1000 genomes]
rs2708467	0.86[ASN][1000 genomes]
rs2708470	0.86[ASN][1000 genomes]
rs2708472	0.86[ASN][1000 genomes]
rs2708473	0.87[ASN][1000 genomes]
rs2708474	0.87[ASN][1000 genomes]
rs2708476	0.87[ASN][1000 genomes]
rs2708477	0.83[ASN][1000 genomes]
rs2708479	0.83[ASN][1000 genomes]
rs2708480	0.88[ASN][1000 genomes]
rs2708481	0.83[ASN][1000 genomes]
rs2708482	0.83[ASN][1000 genomes]
rs2708485	0.88[ASN][1000 genomes]
rs2708487	0.83[ASN][1000 genomes]
rs2708488	0.87[ASN][1000 genomes]
rs2708489	0.83[ASN][1000 genomes]
rs2708491	0.88[ASN][1000 genomes]
rs2708492	0.88[ASN][1000 genomes]
rs2708493	0.89[ASN][1000 genomes]
rs2708494	0.90[ASN][1000 genomes]
rs4363681	0.87[ASN][1000 genomes]
rs4767967	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716231	0.87[ASN][1000 genomes]
rs728622	0.88[ASN][1000 genomes]
rs728623	0.88[ASN][1000 genomes]
rs728624	0.83[ASN][1000 genomes]
rs732374	0.82[AFR][1000 genomes]
rs7955902	0.82[AFR][1000 genomes]
rs937109	0.82[ASN][1000 genomes]
rs937110	0.82[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	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4768221	AC079630.2	cis	Esophagus Mucosa	GTEx
rs4768221	SLC2A13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40595200-40597600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:40596600-40597600	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:40597000-40598200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:40597000-40598800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr12:40597200-40598200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:40597200-40601800	Weak transcription	Primary B cells from cord blood	blood
7	chr12:40597200-40602200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:40597200-40602200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:40597200-40602200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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