Variant report

Variant	rs567054
Chromosome Location	chr6:44867254-44867255
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	chr6:44863793..44865900-chr6:44866802..44868640,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10456119	0.87[ASN][1000 genomes]
rs10484627	0.86[ASN][1000 genomes]
rs10948183	0.87[ASN][1000 genomes]
rs10948185	0.85[ASN][1000 genomes]
rs10948186	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10948187	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10948188	0.81[ASN][1000 genomes]
rs10948190	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10948194	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1150806	0.83[ASN][1000 genomes]
rs12190513	0.81[ASN][1000 genomes]
rs12191518	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12196818	0.81[ASN][1000 genomes]
rs12197442	0.85[ASN][1000 genomes]
rs12198904	0.86[ASN][1000 genomes]
rs12200412	0.86[ASN][1000 genomes]
rs12207620	0.86[ASN][1000 genomes]
rs12209076	0.87[ASN][1000 genomes]
rs12214778	0.81[ASN][1000 genomes]
rs12524069	0.84[ASN][1000 genomes]
rs12525009	0.86[ASN][1000 genomes]
rs12526711	0.86[ASN][1000 genomes]
rs1293598	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1293600	0.84[ASN][1000 genomes]
rs13196587	0.81[ASN][1000 genomes]
rs13201202	0.85[ASN][1000 genomes]
rs13211229	0.80[ASN][1000 genomes]
rs13213412	0.86[ASN][1000 genomes]
rs13215618	0.81[ASN][1000 genomes]
rs13216116	0.81[ASN][1000 genomes]
rs1329716	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1521355	0.81[ASN][1000 genomes]
rs1576382	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1578676	0.84[ASN][1000 genomes]
rs1590864	0.85[ASN][1000 genomes]
rs17339124	0.81[ASN][1000 genomes]
rs17422760	0.88[ASN][1000 genomes]
rs1854547	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1935551	0.81[EUR][1000 genomes]
rs1980265	0.81[ASN][1000 genomes]
rs2396369	0.82[ASN][1000 genomes]
rs2396370	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2396371	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34808716	0.89[ASN][1000 genomes]
rs34982599	0.82[ASN][1000 genomes]
rs35357222	0.80[ASN][1000 genomes]
rs3778507	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3799967	0.82[EUR][1000 genomes]
rs3799968	0.82[EUR][1000 genomes]
rs3799971	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3799973	0.84[ASN][1000 genomes]
rs3799976	0.88[ASN][1000 genomes]
rs3799977	0.89[ASN][1000 genomes]
rs3799979	0.87[ASN][1000 genomes]
rs3799981	0.87[ASN][1000 genomes]
rs3799984	0.84[ASN][1000 genomes]
rs3799986	0.86[ASN][1000 genomes]
rs3846896	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3957281	0.90[ASN][1000 genomes]
rs4711803	0.89[ASN][1000 genomes]
rs4711805	0.89[ASN][1000 genomes]
rs4711807	0.80[ASN][1000 genomes]
rs4714828	0.86[ASN][1000 genomes]
rs472672	0.86[ASN][1000 genomes]
rs472673	0.89[ASN][1000 genomes]
rs494982	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs500773	0.89[ASN][1000 genomes]
rs538801	0.86[ASN][1000 genomes]
rs57020561	0.81[EUR][1000 genomes]
rs588848	0.86[ASN][1000 genomes]
rs608941	0.88[ASN][1000 genomes]
rs62438007	0.87[ASN][1000 genomes]
rs62438011	0.83[ASN][1000 genomes]
rs636845	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6458414	0.89[ASN][1000 genomes]
rs6458415	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs679713	0.86[ASN][1000 genomes]
rs6903576	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6904015	0.81[EUR][1000 genomes]
rs6910294	0.82[EUR][1000 genomes]
rs6919485	0.81[ASN][1000 genomes]
rs6923519	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6925017	0.80[ASN][1000 genomes]
rs718112	0.90[ASN][1000 genomes]
rs7747642	0.88[ASN][1000 genomes]
rs7754378	0.90[ASN][1000 genomes]
rs7763421	0.87[ASN][1000 genomes]
rs9357459	0.81[EUR][1000 genomes]
rs9357464	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9367208	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9367211	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9369513	0.81[EUR][1000 genomes]
rs9369516	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9395051	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9395055	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9463054	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9463055	0.81[EUR][1000 genomes]
rs9472383	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9472407	0.86[ASN][1000 genomes]
rs9472409	0.81[ASN][1000 genomes]
rs9472411	0.81[ASN][1000 genomes]
rs976699	0.80[EUR][1000 genomes];0.81[ASN][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	nsv885861	chr6:44837356-45043618	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1033815	chr6:44845514-44938799	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv5286	chr6:44865290-44909915	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs567054	SUPT3H	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44859200-44889400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:44862600-44889400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr6:44863600-44870400	Weak transcription	Aorta	Aorta
4	chr6:44864800-44888400	Weak transcription	Primary T cells from cord blood	blood
5	chr6:44866400-44868600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:44866600-44869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:44866600-44879600	Weak transcription	Pancreas	Pancrea

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