Variant report

Variant	rs3094054
Chromosome Location	chr6:30333505-30333506
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:30333420-30333570	GM12872	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30332724..30334325-chr6:30343785..30345341,2	K562	blood:
2	chr6:30328664..30331114-chr6:30333217..30335486,2	K562	blood:
3	chr6:30311691..30313259-chr6:30331666..30334647,2	K562	blood:
4	chr6:30292593..30295392-chr6:30331581..30334305,2	MCF-7	breast:

Variant related genes	Relation type
UBQLN1P1	TF binding region
ENSG00000204599	Chromatin interaction
ENSG00000270604	Chromatin interaction
ENSG00000231074	Chromatin interaction
ENSG00000241370	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11158	0.81[EUR][1000 genomes]
rs2106072	0.81[EUR][1000 genomes]
rs2517609	0.88[EUR][1000 genomes]
rs2517617	0.88[EUR][1000 genomes]
rs2517622	0.81[EUR][1000 genomes]
rs2523712	0.88[EUR][1000 genomes]
rs2523729	0.81[EUR][1000 genomes]
rs2844777	0.91[EUR][1000 genomes]
rs3094034	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3094036	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3094056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094064	0.98[EUR][1000 genomes]
rs3094066	0.95[EUR][1000 genomes]
rs3094067	0.98[EUR][1000 genomes]
rs3094069	0.95[EUR][1000 genomes]
rs3094078	0.95[EUR][1000 genomes]
rs3094620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094621	0.89[EUR][1000 genomes]
rs3094622	0.89[EUR][1000 genomes]
rs3094624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094628	0.90[EUR][1000 genomes]
rs3129815	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3129830	0.95[EUR][1000 genomes]
rs3130350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130355	0.98[EUR][1000 genomes]
rs3130363	0.86[EUR][1000 genomes]
rs3130364	1.00[EUR][1000 genomes]
rs3130377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130380	0.95[EUR][1000 genomes]
rs3130399	0.95[EUR][1000 genomes]
rs3132647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3132648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs3094054	ZNF323	cis	parietal	SCAN
rs3094054	BTN2A1	cis	parietal	SCAN
rs3094054	HLA-C	Cis_1M	lymphoblastoid	RTeQTL
rs3094054	HIST1H2BM	cis	cerebellum	SCAN
rs3094054	ZNF192	cis	parietal	SCAN
rs3094054	HLA-A	cis	lymphoblastoid	GTEx
rs3094054	ZKSCAN3	cis	parietal	SCAN
rs3094054	ZNF192	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30331600-30333600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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