Variant report

Variant	rs17073450
Chromosome Location	chr13:30035770-30035771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs17073440	0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073446	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs17073453	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073454	0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073456	0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073458	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073460	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073464	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs17073469	0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17073508	1.00[AMR][1000 genomes]
rs17658712	1.00[YRI][hapmap]
rs17658743	1.00[YRI][hapmap]
rs1986717	0.83[YRI][hapmap]
rs4503648	0.85[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57888514	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59895574	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59903271	1.00[AMR][1000 genomes]
rs61119342	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7335252	1.00[YRI][hapmap]
rs7336242	0.92[YRI][hapmap]
rs73444083	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73444089	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446117	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446124	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446125	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446128	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446130	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446133	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446135	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446137	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446140	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446144	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446147	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446154	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446158	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446160	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446162	1.00[AMR][1000 genomes]
rs73446165	1.00[AMR][1000 genomes]
rs74044806	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74044808	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7984642	1.00[AMR][1000 genomes]
rs7985018	1.00[AMR][1000 genomes]
rs7985850	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7986480	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7986808	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7987266	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8002833	0.92[YRI][hapmap]
rs8003005	0.92[YRI][hapmap]

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	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	esv275414	chr13:30029818-30036181	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	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	chr13:30029200-30038800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:30029400-30038200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr13:30029600-30036000	Weak transcription	Left Ventricle	heart
5	chr13:30029600-30039400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr13:30029600-30039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:30033600-30039400	Enhancers	Fetal Heart	heart
8	chr13:30034200-30038800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr13:30034600-30039800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:30034800-30038600	Weak transcription	HMEC	breast
11	chr13:30034800-30039400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:30034800-30039400	Weak transcription	Aorta	Aorta
13	chr13:30035000-30039000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:30035000-30039200	Weak transcription	K562	blood

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