Variant report

Variant	rs7324224
Chromosome Location	chr13:30283910-30283911
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	chr13:30168840..30170468-chr13:30282432..30283932,2	MCF-7	breast:
2	chr13:30168624..30171119-chr13:30283452..30285208,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

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

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

rs_ID	r²[population]
rs12871145	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12876062	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17073796	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17073799	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17502383	0.83[AMR][1000 genomes]
rs1831095	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34102821	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34177704	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34622544	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34953541	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35331003	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35933222	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56044395	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66982000	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67704126	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73157103	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73157108	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7992067	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7996713	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9579456	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9579458	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9579460	0.91[AMR][1000 genomes];0.86[EUR][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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30280400-30284600	Weak transcription	Esophagus	oesophagus
2	chr13:30282600-30288400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:30282800-30288000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:30283200-30287400	Enhancers	Fetal Kidney	kidney
5	chr13:30283400-30284400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:30283400-30286000	Enhancers	Fetal Brain Male	brain
7	chr13:30283600-30286400	Enhancers	Stomach Mucosa	stomach
8	chr13:30283800-30284000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:30283800-30284400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr13:30283800-30285200	Enhancers	Fetal Brain Female	brain
11	chr13:30283800-30286800	Enhancers	Duodenum Mucosa	Duodenum

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