Variant report

Variant	rs56322620
Chromosome Location	chr12:40952943-40952944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:40952840-40952990	GM12878	blood:	n/a	n/a
2	EBF1	chr12:40952505-40953128	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RNU6-713P	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10506173	1.00[ASN][1000 genomes]
rs10784813	1.00[ASN][1000 genomes]
rs1348509	1.00[ASN][1000 genomes]
rs1373424	1.00[ASN][1000 genomes]
rs1444203	1.00[ASN][1000 genomes]
rs1444204	1.00[ASN][1000 genomes]
rs1584093	1.00[ASN][1000 genomes]
rs17128385	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128536	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128689	1.00[ASN][1000 genomes]
rs17444542	1.00[ASN][1000 genomes]
rs17444612	1.00[ASN][1000 genomes]
rs17492082	1.00[ASN][1000 genomes]
rs17492138	1.00[ASN][1000 genomes]
rs1816856	1.00[ASN][1000 genomes]
rs1867430	1.00[ASN][1000 genomes]
rs1992607	1.00[ASN][1000 genomes]
rs2114567	1.00[ASN][1000 genomes]
rs2120599	1.00[ASN][1000 genomes]
rs2405018	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4275691	1.00[ASN][1000 genomes]
rs55635729	1.00[ASN][1000 genomes]
rs55736346	1.00[ASN][1000 genomes]
rs55775102	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55786396	1.00[ASN][1000 genomes]
rs56032335	1.00[ASN][1000 genomes]
rs56245194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334222	1.00[ASN][1000 genomes]
rs56383533	1.00[ASN][1000 genomes]
rs57772297	1.00[ASN][1000 genomes]
rs57816451	1.00[ASN][1000 genomes]
rs57997594	1.00[ASN][1000 genomes]
rs59066229	1.00[ASN][1000 genomes]
rs6581906	1.00[ASN][1000 genomes]
rs7137967	1.00[ASN][1000 genomes]
rs7138084	1.00[ASN][1000 genomes]
rs73094605	1.00[ASN][1000 genomes]
rs73100409	1.00[ASN][1000 genomes]
rs73100414	1.00[ASN][1000 genomes]
rs73110067	1.00[ASN][1000 genomes]
rs73110075	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73110852	1.00[ASN][1000 genomes]
rs73115378	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73115394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73115401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73117512	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73119913	1.00[ASN][1000 genomes]
rs73123118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123119	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73123140	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279554	1.00[ASN][1000 genomes]
rs73279557	1.00[ASN][1000 genomes]
rs74076704	1.00[ASN][1000 genomes]
rs74078532	1.00[ASN][1000 genomes]
rs74078558	1.00[ASN][1000 genomes]
rs74078563	1.00[ASN][1000 genomes]
rs74078569	1.00[ASN][1000 genomes]
rs74078570	1.00[ASN][1000 genomes]
rs7484715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959703	1.00[ASN][1000 genomes]
rs7977934	1.00[ASN][1000 genomes]
rs9705735	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv832378	chr12:40943111-41132305	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv683	chr12:40951473-40996258	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3405255	chr12:40952764-40953033	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
5	esv3336358	chr12:40952784-40953003	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40947400-40967800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40952600-40954800	Enhancers	GM12878-XiMat	blood

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