Variant report

Variant	rs1844921
Chromosome Location	chr12:40587702-40587703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1031996	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10748014	0.86[ASN][1000 genomes]
rs10784370	0.83[EUR][1000 genomes]
rs10784381	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10784386	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10784428	0.86[ASN][1000 genomes]
rs10878113	0.80[ASN][1000 genomes]
rs10878220	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10878222	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10878224	0.86[ASN][1000 genomes]
rs1117378	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11175275	0.81[EUR][1000 genomes]
rs11175326	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11175327	0.93[ASN][1000 genomes]
rs11175656	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12827541	0.88[ASN][1000 genomes]
rs1352876	0.83[ASN][1000 genomes]
rs1388587	0.93[ASN][1000 genomes]
rs1388588	0.90[ASN][1000 genomes]
rs1388589	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1388590	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1388591	0.88[ASN][1000 genomes]
rs1463719	0.93[ASN][1000 genomes]
rs1463720	0.93[ASN][1000 genomes]
rs1472118	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1482284	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1482285	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1482287	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1482288	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1491927	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1491928	0.93[ASN][1000 genomes]
rs1491929	0.96[ASN][1000 genomes]
rs1491930	0.88[ASN][1000 genomes]
rs1491931	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1602578	0.86[ASN][1000 genomes]
rs1844922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873611	0.91[ASN][1000 genomes]
rs1873612	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1873613	0.91[ASN][1000 genomes]
rs1905121	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1948380	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2131082	0.96[ASN][1000 genomes]
rs2131083	0.96[ASN][1000 genomes]
rs2170503	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2201143	0.96[ASN][1000 genomes]
rs2220677	0.96[ASN][1000 genomes]
rs2248928	0.93[ASN][1000 genomes]
rs2249010	0.93[ASN][1000 genomes]
rs2249017	0.93[ASN][1000 genomes]
rs2638231	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2638232	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2638245	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638249	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2638251	0.98[ASN][1000 genomes]
rs2638252	0.93[ASN][1000 genomes]
rs2638253	0.93[ASN][1000 genomes]
rs2638254	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2638257	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2638258	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2638259	0.94[ASN][1000 genomes]
rs2638260	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2638262	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2638263	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2638264	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2638266	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2638267	0.88[ASN][1000 genomes]
rs2708449	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2708464	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2708466	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2708467	0.96[ASN][1000 genomes]
rs2708470	0.96[ASN][1000 genomes]
rs2708472	0.96[ASN][1000 genomes]
rs2708473	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2708474	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2708476	0.98[ASN][1000 genomes]
rs2708477	0.93[ASN][1000 genomes]
rs2708479	0.93[ASN][1000 genomes]
rs2708480	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2708481	0.93[ASN][1000 genomes]
rs2708482	0.93[ASN][1000 genomes]
rs2708485	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2708487	0.93[ASN][1000 genomes]
rs2708488	0.98[ASN][1000 genomes]
rs2708489	0.93[ASN][1000 genomes]
rs2708491	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2708492	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2708493	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2708494	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812791	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4363681	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767967	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4768221	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6581514	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6581519	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs716231	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs722817	0.88[ASN][1000 genomes]
rs728622	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs728623	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs728624	0.93[ASN][1000 genomes]
rs729216	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7306140	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7310430	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs878010	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs900253	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs937109	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs937110	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs937111	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	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
rs1844921	SLC2A13	Cis_1M	lymphoblastoid	RTeQTL
rs1844921	AC079630.2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40586000-40591000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr12:40586200-40591600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:40586800-40588800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:40587000-40587800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr12:40587000-40588000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:40587000-40588200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:40587200-40588000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:40587200-40588200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:40587200-40588200	Enhancers	Primary B cells from cord blood	blood
10	chr12:40587200-40589400	Weak transcription	HUVEC	blood vessel
11	chr12:40587200-40590400	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:40587400-40588000	Enhancers	GM12878-XiMat	blood
13	chr12:40587600-40588000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:40587600-40588200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:40587600-40588200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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