Variant report

Variant	rs4463250
Chromosome Location	chr6:45249186-45249187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10456552	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1080415	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10807318	0.81[AMR][1000 genomes]
rs10807319	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10807320	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10948222	0.88[ASN][1000 genomes]
rs10948229	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12194311	0.80[ASN][1000 genomes]
rs12199720	0.83[ASN][1000 genomes]
rs12205274	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12208924	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12524323	0.83[ASN][1000 genomes]
rs12529946	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1284965	0.80[ASN][1000 genomes]
rs1304168	0.82[ASN][1000 genomes]
rs1324540	0.83[ASN][1000 genomes]
rs1581777	0.83[ASN][1000 genomes]
rs17288278	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1852986	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2093901	0.80[ASN][1000 genomes]
rs2093903	0.80[ASN][1000 genomes]
rs2396425	0.80[ASN][1000 genomes]
rs2396504	0.82[ASN][1000 genomes]
rs3923353	0.82[ASN][1000 genomes]
rs4072928	0.83[ASN][1000 genomes]
rs4352679	0.85[ASN][1000 genomes]
rs4373351	0.81[ASN][1000 genomes]
rs4446571	0.85[ASN][1000 genomes]
rs4610549	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4714845	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4714847	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4714848	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6458425	0.80[AMR][1000 genomes]
rs6458427	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6458428	0.80[ASN][1000 genomes]
rs6458430	0.80[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6458441	0.81[ASN][1000 genomes]
rs6901786	0.80[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6928753	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6932804	0.82[ASN][1000 genomes]
rs6933449	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6934594	0.82[ASN][1000 genomes]
rs6935398	0.83[ASN][1000 genomes]
rs6937317	0.83[ASN][1000 genomes]
rs6938177	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7451423	0.88[ASN][1000 genomes]
rs7738526	0.80[AMR][1000 genomes]
rs7740083	0.83[ASN][1000 genomes]
rs7757282	0.83[ASN][1000 genomes]
rs7767025	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7769231	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9296453	0.83[ASN][1000 genomes]
rs9296455	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9296457	0.80[ASN][1000 genomes]
rs9296458	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9357478	0.82[ASN][1000 genomes]
rs9357480	0.83[ASN][1000 genomes]
rs9357484	0.83[ASN][1000 genomes]
rs9369558	0.83[ASN][1000 genomes]
rs9381373	0.80[ASN][1000 genomes]
rs9381383	0.83[ASN][1000 genomes]
rs9395086	0.83[ASN][1000 genomes]
rs9395088	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9395095	0.83[ASN][1000 genomes]
rs9463076	0.80[AMR][1000 genomes]
rs9463081	0.83[ASN][1000 genomes]
rs9463083	0.83[ASN][1000 genomes]
rs9472451	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv2763550	chr6:45186825-45275593	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv830652	chr6:45187467-45328983	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4463250	SUPT3H	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45248200-45249400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr6:45248800-45249200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:45248800-45249600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:45248800-45249600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:45248800-45249600	ZNF genes & repeats	Aorta	Aorta
6	chr6:45248800-45249600	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr6:45249000-45249600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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