Variant report

Variant	rs11112364
Chromosome Location	chr12:105479427-105479428
allele	G/T
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	chr12:105479420-105479570	HPF	lung:	n/a	chr12:105479498-105479511 chr12:105479493-105479511 chr12:105479495-105479508
2	CTCF	chr12:105479360-105479510	HCPEpiC	choroid plexus:	n/a	chr12:105479495-105479508
3	CTCF	chr12:105479360-105479510	HMF	breast:	n/a	chr12:105479495-105479508
4	CTCF	chr12:105479380-105479530	HBMEC	blood vessel:	n/a	chr12:105479498-105479511 chr12:105479493-105479511 chr12:105479495-105479508
5	CTCF	chr12:105479400-105479550	HMF	breast:	n/a	chr12:105479498-105479511 chr12:105479493-105479511 chr12:105479495-105479508
6	CTCF	chr12:105479420-105479570	HCM	heart:	n/a	chr12:105479498-105479511 chr12:105479493-105479511 chr12:105479495-105479508
7	CTCF	chr12:105479380-105479530	HCPEpiC	choroid plexus:	n/a	chr12:105479498-105479511 chr12:105479493-105479511 chr12:105479495-105479508
8	CTCF	chr12:105479380-105479530	HMEC	breast:	n/a	chr12:105479498-105479511 chr12:105479493-105479511 chr12:105479495-105479508

No.	Distal block	Cell Line	Cell type
1	chr12:105476808..105479481-chr12:105501524..105503382,3	K562	blood:
2	chr12:105477772..105479851-chr12:105501425..105505225,4	MCF-7	breast:
3	chr12:105477899..105479847-chr12:105501301..105502988,2	MCF-7	breast:

Variant related genes	Relation type
ALDH1L2	TF binding region
ENSG00000136051	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1014502	0.81[ASN][1000 genomes]
rs10459164	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10459203	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10459204	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10861334	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10861338	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10861339	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11112355	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112360	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112363	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230762	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12823614	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12830078	0.83[ASN][1000 genomes]
rs17036625	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2166143	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34119882	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34384505	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34891908	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35073181	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35132501	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4964121	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55908437	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105478800-105479600	Enhancers	Fetal Brain Female	brain
2	chr12:105478800-105480200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:105478800-105483200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:105478800-105483400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:105478800-105483600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:105478800-105483600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:105478800-105483800	Weak transcription	K562	blood
8	chr12:105478800-105486200	Weak transcription	Right Atrium	heart
9	chr12:105479200-105482800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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