Variant report

Variant	rs40931
Chromosome Location	chr7:108197066-108197067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:108191362..108206184-chr7:108206645..108216261,27	K562	blood:

Variant related genes	Relation type
ENSG00000135241	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000177683	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];0.87[EUR][1000 genomes]
rs35372181	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3763457	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs40912	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40914	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40915	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40919	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40921	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs40923	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40924	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40925	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40926	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40928	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40932	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40934	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40936	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40938	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40939	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40940	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40941	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs40942	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40944	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40945	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40946	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40947	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40948	0.90[AMR][1000 genomes];0.97[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
rs40931	THAP5	cis	Muscle Skeletal	GTEx
rs40931	THAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108190200-108201400	Weak transcription	HSMMtube	muscle
2	chr7:108191400-108204600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:108195600-108208400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:108196400-108198800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
5	chr7:108196600-108198600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr7:108196800-108197600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr7:108196800-108198600	ZNF genes & repeats	Dnd41	blood
8	chr7:108197000-108197800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:108197000-108197800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:108197000-108198000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:108197000-108198600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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