Variant report

Variant	rs74044806
Chromosome Location	chr13:30036531-30036532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs17073440	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073446	0.93[AFR][1000 genomes]
rs17073450	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073454	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073456	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073458	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073460	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073464	0.84[AFR][1000 genomes]
rs17073469	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073508	1.00[AMR][1000 genomes]
rs4503648	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57888514	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59895574	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59903271	1.00[AMR][1000 genomes]
rs61119342	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73444083	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73444089	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446117	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446120	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446124	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446133	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446135	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446137	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446140	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446144	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446147	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446154	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446158	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446160	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446162	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446165	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74044808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7984642	1.00[AMR][1000 genomes]
rs7985018	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7985850	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7986480	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7986808	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7987266	0.96[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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30015200-30054800	Weak transcription	Dnd41	blood
2	chr13:30029200-30038800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:30029400-30038200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr13:30029600-30039400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr13:30029600-30039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:30033600-30039400	Enhancers	Fetal Heart	heart
7	chr13:30034200-30038800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr13:30034600-30039800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:30034800-30038600	Weak transcription	HMEC	breast
10	chr13:30034800-30039400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr13:30034800-30039400	Weak transcription	Aorta	Aorta
12	chr13:30035000-30039000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:30035000-30039200	Weak transcription	K562	blood
14	chr13:30036000-30040400	Enhancers	Left Ventricle	heart
15	chr13:30036400-30036600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:30036400-30036800	Enhancers	Right Atrium	heart

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