Variant report

Variant	rs40914
Chromosome Location	chr7:108181778-108181779
allele	A/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	chr7:108175375..108182018-chr7:108207477..108213332,11	K562	blood:
3	chr7:108174082..108182018-chr7:108207303..108212626,11	K562	blood:

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

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12666562	0.86[EUR][1000 genomes]
rs35372181	0.91[EUR][1000 genomes]
rs3763457	0.86[EUR][1000 genomes]
rs40912	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40915	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40919	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40921	0.84[EUR][1000 genomes]
rs40923	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40924	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40925	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40926	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40928	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40931	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40932	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40934	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40938	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40939	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40940	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40941	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs40942	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40944	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40945	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs40946	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40947	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40948	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs40914	THAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108181000-108181800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:108181600-108181800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:108181600-108181800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:108181600-108182200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:108181600-108182600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:108181600-108182800	Enhancers	HUES64 Cell Line	embryonic stem cell

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