Variant report

Variant	rs73427862
Chromosome Location	chr7:120503686-120503687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120496585..120499423-chr7:120501115..120503744,3	K562	blood:
2	chr7:120501243..120503958-chr7:120508680..120510304,2	K562	blood:
3	chr7:120495753..120498197-chr7:120502989..120505087,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106025	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10274689	0.81[ASN][1000 genomes]
rs10279837	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11976580	0.86[EUR][1000 genomes]
rs11982493	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17132731	0.86[EUR][1000 genomes]
rs17142976	0.81[EUR][1000 genomes]
rs17142995	0.81[ASN][1000 genomes]
rs17143001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17143009	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17143013	0.85[EUR][1000 genomes]
rs2040762	0.81[EUR][1000 genomes]
rs2158323	0.87[ASN][1000 genomes]
rs2158324	0.87[ASN][1000 genomes]
rs2402551	0.87[ASN][1000 genomes]
rs2524949	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2721343	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2721344	0.84[EUR][1000 genomes]
rs2721346	0.84[EUR][1000 genomes]
rs2721347	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3757557	0.80[ASN][1000 genomes]
rs3823859	0.81[ASN][1000 genomes]
rs4141309	0.81[ASN][1000 genomes]
rs56023697	0.86[EUR][1000 genomes]
rs56755229	0.82[ASN][1000 genomes]
rs56922360	0.83[ASN][1000 genomes]
rs57457261	0.83[ASN][1000 genomes]
rs57818444	0.82[ASN][1000 genomes]
rs59169713	0.83[ASN][1000 genomes]
rs59567952	0.81[ASN][1000 genomes]
rs61043018	0.82[ASN][1000 genomes]
rs6466760	0.84[AMR][1000 genomes]
rs6466762	0.81[ASN][1000 genomes]
rs67679138	0.81[EUR][1000 genomes]
rs6958947	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs714259	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73427831	0.81[ASN][1000 genomes]
rs73427834	0.82[ASN][1000 genomes]
rs73427866	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73427871	0.86[EUR][1000 genomes]
rs73427873	0.86[EUR][1000 genomes]
rs73427878	0.85[EUR][1000 genomes]
rs73721472	0.87[EUR][1000 genomes]
rs7779136	0.83[ASN][1000 genomes]
rs7779149	0.83[ASN][1000 genomes]
rs7779941	0.83[ASN][1000 genomes]
rs7780247	0.83[ASN][1000 genomes]
rs7781985	0.81[ASN][1000 genomes]
rs7806629	0.83[ASN][1000 genomes]
rs7810542	0.86[EUR][1000 genomes]
rs9648991	0.82[ASN][1000 genomes]
rs9648992	0.83[ASN][1000 genomes]
rs9648993	0.83[ASN][1000 genomes]
rs9649427	0.83[ASN][1000 genomes]
rs9649428	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv5929	chr7:120467591-120513472	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73427862	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120498400-120504600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:120498400-120506800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:120499000-120504600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:120499000-120504800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:120499200-120504400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:120499400-120504600	Weak transcription	Fetal Kidney	kidney
7	chr7:120499800-120504400	Weak transcription	Fetal Heart	heart
8	chr7:120503200-120503800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:120503400-120504200	Weak transcription	Fetal Muscle Leg	muscle

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