Variant report

Variant	rs40933
Chromosome Location	chr7:108197848-108197849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:108197691..108199841-chr7:108209590..108211636,2	K562	blood:
2	chr7:108191362..108206184-chr7:108206645..108216261,27	K562	blood:

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

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10156002	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10253210	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10270723	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10282368	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1043615	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17426315	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2041003	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2072212	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34668718	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs40911	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40913	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40916	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40918	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs40922	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40927	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40929	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40930	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40937	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40943	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730324	0.81[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
rs40933	THAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 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	chr7:108196800-108198600	ZNF genes & repeats	Dnd41	blood
7	chr7:108197000-108198000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:108197000-108198600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:108197400-108198600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr7:108197400-108198600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:108197600-108208600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:108197800-108198000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:108197800-108198600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr7:108197800-108208600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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