Variant report

Variant	rs336582
Chromosome Location	chr3:161082659-161082660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:161040142..161042354-chr3:161082440..161084651,2	MCF-7	breast:
2	chr3:160934982..160947568-chr3:161079696..161093037,40	MCF-7	breast:
3	chr3:160936365..160960187-chr3:161078472..161094658,51	MCF-7	breast:
4	chr3:160819385..160821536-chr3:161081853..161083436,2	MCF-7	breast:
5	chr2:178075634..178077444-chr3:161081913..161083742,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170144	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000271052	Chromatin interaction
ENSG00000169251	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10804790	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1154701	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1382427	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1382428	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1478565	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1600209	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs163328	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs189270	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1993891	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2404340	0.81[AMR][1000 genomes]
rs28515190	0.84[AMR][1000 genomes]
rs336541	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs336543	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs336548	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs336567	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs336568	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336569	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs336570	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs336577	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs336579	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs336580	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs336583	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs336585	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs336586	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs336589	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs336590	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs336591	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs336593	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs339101	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3849524	0.82[AMR][1000 genomes]
rs4518145	0.85[EUR][1000 genomes]
rs456611	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs457272	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs459515	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs459697	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs460165	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs460508	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs462514	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs463928	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs464766	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs466399	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4856739	0.87[EUR][1000 genomes]
rs62279921	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6441370	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6441371	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6441373	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6774276	0.83[EUR][1000 genomes]
rs6789388	0.87[EUR][1000 genomes]
rs6791213	0.82[EUR][1000 genomes]
rs6809256	0.81[EUR][1000 genomes]
rs7611367	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7629987	0.82[AMR][1000 genomes]
rs7632797	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7633186	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7638668	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7647327	0.83[AMR][1000 genomes]
rs7653361	0.82[AMR][1000 genomes]
rs899275	0.82[EUR][1000 genomes]
rs9290074	0.82[AMR][1000 genomes]
rs975323	0.84[AMR][1000 genomes]
rs9821201	0.82[AMR][1000 genomes]
rs9870059	0.82[AMR][1000 genomes]
rs9872514	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv533237	chr3:161019834-161804660	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	91 gene(s)	inside rSNPs	diseases
3	nsv829772	chr3:161047817-161202554	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv963570	chr3:161076656-161088849	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs336582	SPTSSB	cis	Heart Left Ventricle	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161059800-161089200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:161064400-161083000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:161068200-161083200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:161068400-161083200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:161076200-161083200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:161081800-161087200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:161082200-161083800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:161082400-161082800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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