Variant report

Variant	rs7315740
Chromosome Location	chr12:47078456-47078457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47074270..47075808-chr12:47077694..47079248,2	K562	blood:
2	chr12:46776440..46778340-chr12:47077139..47078677,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257261	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11183519	0.80[AMR][1000 genomes]
rs11183551	0.85[AMR][1000 genomes]
rs12311952	0.85[AMR][1000 genomes]
rs12318944	0.84[AMR][1000 genomes]
rs12579010	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12579419	0.94[AMR][1000 genomes]
rs12579984	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12580176	0.92[AMR][1000 genomes]
rs12581743	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1266371	0.82[AMR][1000 genomes]
rs17097079	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17097091	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17097141	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1946174	0.87[AMR][1000 genomes]
rs1986154	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2160892	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2287470	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2408616	0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2897979	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4351902	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4768124	0.80[AMR][1000 genomes]
rs4768126	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4768738	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4768740	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4768746	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4768747	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768749	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57349356	0.81[AMR][1000 genomes]
rs57616927	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58806862	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59408501	0.84[AMR][1000 genomes]
rs7132144	0.82[AMR][1000 genomes]
rs7133051	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7310614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7311414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73282105	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73282110	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7487359	0.80[AMR][1000 genomes]
rs7955364	0.81[AMR][1000 genomes]
rs7959179	0.89[ASN][1000 genomes]
rs7971812	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7976531	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7976785	0.82[AMR][1000 genomes]
rs7979449	0.81[AMR][1000 genomes];0.86[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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47071000-47080600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:47074600-47083800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:47074800-47091200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:47077800-47091200	Weak transcription	Primary hematopoietic stem cells	blood

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