Variant report

Variant	rs40915
Chromosome Location	chr7:108182719-108182720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:108182320..108186636-chr7:108208498..108210540,3	K562	blood:
2	chr7:108182320..108185203-chr7:108208498..108210540,2	K562	blood:
3	chr7:108164437..108170294-chr7:108182058..108185916,6	K562	blood:
4	chr7:108165788..108168394-chr7:108182131..108184458,3	K562	blood:

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

Extended variants
information (count: 62 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10487859	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs11974559	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs11981670	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs12666562	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13229488	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs17155828	0.86[ASN][1000 genomes]
rs17424206	0.86[ASN][1000 genomes]
rs194587	0.86[ASN][1000 genomes]
rs3202837	0.86[ASN][1000 genomes]
rs34814097	0.86[ASN][1000 genomes]
rs34887057	0.86[ASN][1000 genomes]
rs35372181	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35880371	0.86[ASN][1000 genomes]
rs3763457	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40843	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs40845	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs40850	0.86[ASN][1000 genomes]
rs40854	0.86[ASN][1000 genomes]
rs40872	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs40875	0.90[ASN][1000 genomes]
rs40878	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs40880	0.90[ASN][1000 genomes]
rs40882	0.86[ASN][1000 genomes]
rs40885	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs40886	0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs40895	0.90[ASN][1000 genomes]
rs40899	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs40900	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs40901	0.90[ASN][1000 genomes]
rs40902	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs40908	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs40910	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs40912	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40914	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40919	0.96[CEU][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40921	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40926	0.96[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40931	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40932	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40934	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40936	0.96[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40938	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40940	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40942	0.92[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40944	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40945	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40946	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40948	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60426977	0.86[ASN][1000 genomes]
rs6466238	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs67694466	0.86[ASN][1000 genomes]
rs6947492	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs6955152	0.86[ASN][1000 genomes]
rs71568528	0.90[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs40915	THAP5	cis	Muscle Skeletal	GTEx
rs40915	THAP5	Cis_1M	lymphoblastoid	RTeQTL
rs40915	THAP5	cis	uninvolved skin	skin_eQTL
rs40915	THAP5	cis	Esophagus Muscularis	GTEx
rs40915	THAP5	cis	multi-tissue	Pritchard
rs40915	THAP5	cis	normal skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108181600-108182800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr7:108182400-108182800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:108182600-108183200	Enhancers	HUES48 Cell Line	embryonic stem cell

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