Variant report

Variant	rs57888514
Chromosome Location	chr13:30041280-30041281
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30004238..30007037-chr13:30039957..30042657,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs17073440	1.00[AMR][1000 genomes]
rs17073450	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073453	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073454	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073456	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073458	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073460	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073464	1.00[AFR][1000 genomes]
rs17073469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073508	1.00[AMR][1000 genomes]
rs4503648	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59895574	1.00[AMR][1000 genomes]
rs59903271	1.00[AMR][1000 genomes]
rs61119342	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73444083	1.00[AMR][1000 genomes]
rs73444089	1.00[AMR][1000 genomes]
rs73446117	1.00[AMR][1000 genomes]
rs73446120	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446124	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446125	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446128	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446130	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446133	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446135	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446137	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446140	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446144	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446147	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446158	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446160	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446162	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446165	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74044806	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74044808	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7984642	1.00[AMR][1000 genomes]
rs7985018	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7985850	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7986480	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7986808	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7987266	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427927	chr13:29729315-30062054	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv983696	chr13:30034016-30090454	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30015200-30054800	Weak transcription	Dnd41	blood
2	chr13:30036800-30043200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:30038200-30041400	Enhancers	Fetal Muscle Leg	muscle
4	chr13:30039200-30041600	Enhancers	Fetal Muscle Trunk	muscle
5	chr13:30040000-30054200	Weak transcription	Aorta	Aorta
6	chr13:30040400-30041600	Enhancers	Colon Smooth Muscle	Colon
7	chr13:30040400-30052800	Weak transcription	Left Ventricle	heart
8	chr13:30040600-30042600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:30040600-30045600	Weak transcription	K562	blood
10	chr13:30040600-30053400	Weak transcription	Right Ventricle	heart
11	chr13:30040800-30042600	Weak transcription	HSMMtube	muscle
12	chr13:30041000-30041400	Weak transcription	Fetal Heart	heart
13	chr13:30041200-30042000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:30041200-30042200	Enhancers	Primary hematopoietic stem cells	blood

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