Variant report

Variant	rs40912
Chromosome Location	chr7:108179726-108179727
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:108164488..108174629-chr7:108175608..108181939,14	K562	blood:
2	chr7:108178264..108181237-chr7:108188016..108189662,2	MCF-7	breast:
3	chr7:108175375..108182018-chr7:108207477..108213332,11	K562	blood:
4	chr7:108174082..108182018-chr7:108207303..108212626,11	K562	blood:

Variant related genes	Relation type
ENSG00000177683	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000128590	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12666562	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35372181	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3763457	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs40914	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40915	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40919	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40921	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs40923	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40924	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40925	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40926	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40928	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40931	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40932	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40934	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40936	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40938	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40939	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40940	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40941	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs40942	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40944	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40945	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs40946	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40947	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40948	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs40912	THAP5	cis	Muscle Skeletal	GTEx
rs40912	THAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108178800-108180000	Enhancers	Liver	Liver
2	chr7:108179400-108180000	Enhancers	K562	blood

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