Variant report

Variant	rs73478325
Chromosome Location	chr13:49309121-49309122
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	chr13:49306999..49309644-chr13:49322315..49324114,2	K562	blood:
2	chr13:49308197..49309697-chr5:72142788..72144546,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000083312	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs17072105	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17072179	0.85[ASN][1000 genomes]
rs17072181	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1998511	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs28445170	0.85[ASN][1000 genomes]
rs56959802	0.84[EUR][1000 genomes]
rs57042574	0.84[EUR][1000 genomes]
rs57186324	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs58150329	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60424010	0.84[EUR][1000 genomes]
rs61027580	0.87[EUR][1000 genomes]
rs6561478	0.93[EUR][1000 genomes]
rs7327830	0.85[ASN][1000 genomes]
rs73478365	0.85[AFR][1000 genomes]
rs9591202	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9591203	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9591204	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9591205	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9591207	0.85[ASN][1000 genomes]
rs9591208	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9591209	0.85[ASN][1000 genomes]
rs9595975	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595977	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9595978	0.87[EUR][1000 genomes]
rs9595985	0.85[ASN][1000 genomes]
rs9595986	0.85[ASN][1000 genomes]
rs9595987	0.85[ASN][1000 genomes]
rs9595989	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9595990	0.88[ASN][1000 genomes]
rs9595991	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9595993	0.88[ASN][1000 genomes]
rs985466	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49303000-49312200	Weak transcription	Fetal Lung	lung
2	chr13:49306200-49309200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr13:49306200-49309400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:49306400-49311800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr13:49306600-49312200	Weak transcription	Left Ventricle	heart
6	chr13:49306800-49312000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:49307600-49311800	Weak transcription	Dnd41	blood
8	chr13:49308400-49312200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:49308600-49312600	Weak transcription	Right Ventricle	heart
10	chr13:49309000-49309200	Enhancers	Fetal Brain Female	brain

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