Variant report

Variant	rs73427866
Chromosome Location	chr7:120504872-120504873
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120504054..120506275-chr7:120506621..120509574,2	K562	blood:
2	chr7:120504448..120506162-chr7:120510454..120511972,2	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: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10225453	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10257297	0.84[ASN][1000 genomes]
rs10257475	0.84[ASN][1000 genomes]
rs10266755	0.86[ASN][1000 genomes]
rs10274689	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10279837	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953922	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11982493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12669167	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13231854	0.86[ASN][1000 genomes]
rs1557857	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17142995	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17143001	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17143009	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1859318	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1859319	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2040762	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2107275	0.86[ASN][1000 genomes]
rs2107276	0.90[ASN][1000 genomes]
rs2524949	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2524951	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2525705	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2525709	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2525743	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2721339	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2721341	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2721343	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2721347	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2721354	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2721364	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3735467	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3779386	0.85[ASN][1000 genomes]
rs3814460	0.89[ASN][1000 genomes]
rs3823859	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3823861	0.86[ASN][1000 genomes]
rs41621	0.84[ASN][1000 genomes]
rs41624	0.84[ASN][1000 genomes]
rs41627	0.84[ASN][1000 genomes]
rs41628	0.84[ASN][1000 genomes]
rs41629	0.84[ASN][1000 genomes]
rs41632	0.86[ASN][1000 genomes]
rs4445165	0.85[ASN][1000 genomes]
rs55855220	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61452531	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6466759	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466760	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466761	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6466762	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6953454	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6958947	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6959328	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6964667	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6964786	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6971854	0.85[ASN][1000 genomes]
rs6979247	0.83[ASN][1000 genomes]
rs714259	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73427805	0.85[ASN][1000 genomes]
rs73427834	0.80[ASN][1000 genomes]
rs73427862	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73429803	0.84[ASN][1000 genomes]
rs745167	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7776721	0.84[ASN][1000 genomes]
rs7781985	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7800318	0.85[ASN][1000 genomes]
rs7805211	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9649429	0.84[ASN][1000 genomes]
rs996903	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[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
rs73427866	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120498400-120506800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:120504200-120505200	Enhancers	Fetal Muscle Leg	muscle
3	chr7:120504200-120505800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:120504400-120505800	Enhancers	HSMMtube	muscle
5	chr7:120504400-120506000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:120504400-120506800	Enhancers	Fetal Heart	heart
7	chr7:120504600-120505000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:120504600-120505000	Enhancers	Right Atrium	heart
9	chr7:120504600-120505000	Enhancers	Right Ventricle	heart
10	chr7:120504600-120505600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:120504600-120505600	Enhancers	Fetal Kidney	kidney
12	chr7:120504600-120506000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:120504800-120506000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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