Variant report

Variant	rs8005609
Chromosome Location	chr14:70279293-70279294
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	chr14:70232929..70234493-chr14:70278295..70279993,2	MCF-7	breast:
2	chr14:70278462..70280862-chr14:70497209..70499902,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10130926	0.84[ASN][1000 genomes]
rs10136397	0.97[ASN][1000 genomes]
rs10136529	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10142027	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10142031	0.93[EUR][1000 genomes]
rs10142686	0.88[EUR][1000 genomes]
rs10146537	0.87[ASN][1000 genomes]
rs10148404	0.97[ASN][1000 genomes]
rs10151895	0.92[EUR][1000 genomes]
rs10459536	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11620808	0.97[ASN][1000 genomes]
rs11622925	0.82[ASN][1000 genomes]
rs11623262	0.89[ASN][1000 genomes]
rs11624523	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11627012	0.95[ASN][1000 genomes]
rs11627089	0.97[ASN][1000 genomes]
rs11628423	0.95[ASN][1000 genomes]
rs11628546	0.95[ASN][1000 genomes]
rs11628665	0.95[ASN][1000 genomes]
rs12431573	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13313365	0.97[ASN][1000 genomes]
rs13313366	0.97[ASN][1000 genomes]
rs13313388	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs14411	0.97[ASN][1000 genomes]
rs17328	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1953400	0.93[EUR][1000 genomes]
rs2148503	0.93[EUR][1000 genomes]
rs2148505	0.93[EUR][1000 genomes]
rs2332167	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28437671	0.97[ASN][1000 genomes]
rs28480224	0.97[ASN][1000 genomes]
rs28490548	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2877598	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28785205	0.95[ASN][1000 genomes]
rs3104	0.93[EUR][1000 genomes]
rs3784152	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3784153	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4646285	0.82[ASN][1000 genomes]
rs4646286	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4646297	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4902755	0.93[EUR][1000 genomes]
rs4902756	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902757	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56177148	0.97[ASN][1000 genomes]
rs59066042	0.97[ASN][1000 genomes]
rs60442313	0.93[EUR][1000 genomes]
rs61356864	0.82[ASN][1000 genomes]
rs6573907	0.90[EUR][1000 genomes]
rs6573908	0.93[EUR][1000 genomes]
rs6573909	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7142868	0.90[EUR][1000 genomes]
rs7152290	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7153496	0.90[EUR][1000 genomes]
rs7154439	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8011311	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8013598	0.93[EUR][1000 genomes]
rs8014236	0.88[EUR][1000 genomes]
rs8021735	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9944036	0.84[AMR][1000 genomes];0.97[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	esv3380898	chr14:70278336-70282507	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70275400-70280000	Enhancers	Liver	Liver
2	chr14:70277800-70280200	Weak transcription	Fetal Intestine Small	intestine
3	chr14:70278200-70280200	Weak transcription	Fetal Intestine Large	intestine
4	chr14:70278400-70280200	Active TSS	Placenta	Placenta
5	chr14:70278400-70281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:70279000-70280600	Enhancers	HepG2	liver
7	chr14:70279200-70280000	Enhancers	Hela-S3	cervix

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