Variant report

Variant	rs9321388
Chromosome Location	chr6:133384863-133384864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133140267..133142584-chr6:133384243..133385857,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10457002	0.96[EUR][1000 genomes]
rs10457602	0.95[CEU][hapmap]
rs10457603	0.95[CEU][hapmap]
rs12192002	0.91[EUR][1000 genomes]
rs12192605	0.91[EUR][1000 genomes]
rs12193118	0.85[EUR][1000 genomes]
rs12198619	0.84[EUR][1000 genomes]
rs12200155	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12201315	0.95[CEU][hapmap]
rs12205139	0.88[EUR][1000 genomes]
rs12212715	0.89[EUR][1000 genomes]
rs28538690	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4077767	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077768	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4273707	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4273708	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4285336	0.81[AFR][1000 genomes]
rs4571580	0.83[AFR][1000 genomes]
rs57161827	0.89[EUR][1000 genomes]
rs58835706	0.89[EUR][1000 genomes]
rs62430562	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62430580	0.82[EUR][1000 genomes]
rs62430581	0.84[EUR][1000 genomes]
rs62430582	0.89[EUR][1000 genomes]
rs62430588	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62430590	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6569863	0.83[CHB][hapmap]
rs6569865	0.81[AFR][1000 genomes]
rs6902225	0.83[EUR][1000 genomes]
rs6911954	0.96[EUR][1000 genomes]
rs6927627	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6933214	0.86[EUR][1000 genomes]
rs6935070	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6935480	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6936410	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6937029	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6939899	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6940959	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72557636	0.85[EUR][1000 genomes]
rs7738156	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7738592	0.90[EUR][1000 genomes]
rs7740210	0.83[AFR][1000 genomes]
rs7750279	0.95[CEU][hapmap]
rs7750376	1.00[CEU][hapmap]
rs7754486	0.95[CEU][hapmap]
rs7756171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7756963	0.80[EUR][1000 genomes]
rs7761372	0.91[EUR][1000 genomes]
rs9321389	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9483524	0.87[AFR][1000 genomes]
rs9483529	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9483530	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9483535	0.97[EUR][1000 genomes]
rs9493513	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9493514	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9493515	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9493517	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9493518	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs975225	0.83[CHB][hapmap]

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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv428154	chr6:133271975-133522803	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv3445931	chr6:133347824-133434532	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv519475	chr6:133350936-133474673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9321388	HBS1L	cis	parietal	SCAN
rs9321388	HBS1L	cis	cerebellum	SCAN
rs9321388	SNORA33	cis	cerebellum	SCAN
rs9321388	SAMD3	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133384400-133385800	Weak transcription	Psoas Muscle	Psoas
2	chr6:133384400-133388600	Weak transcription	Fetal Heart	heart
3	chr6:133384800-133387400	Weak transcription	NHLF	lung

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