Variant report

Variant	rs17134621
Chromosome Location	chr5:111813992-111813993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10036273	1.00[EUR][1000 genomes]
rs10039730	1.00[EUR][1000 genomes]
rs10060534	1.00[EUR][1000 genomes]
rs10060962	1.00[EUR][1000 genomes]
rs10068969	1.00[EUR][1000 genomes]
rs10515444	1.00[EUR][1000 genomes]
rs10515447	1.00[EUR][1000 genomes]
rs12109843	1.00[EUR][1000 genomes]
rs13354202	1.00[EUR][1000 genomes]
rs1524423	1.00[EUR][1000 genomes]
rs17134339	1.00[EUR][1000 genomes]
rs17134370	1.00[EUR][1000 genomes]
rs17134418	1.00[EUR][1000 genomes]
rs17134478	1.00[EUR][1000 genomes]
rs17134479	1.00[EUR][1000 genomes]
rs17134502	1.00[EUR][1000 genomes]
rs17134556	1.00[EUR][1000 genomes]
rs17134559	1.00[EUR][1000 genomes]
rs17134564	1.00[EUR][1000 genomes]
rs17134566	1.00[EUR][1000 genomes]
rs17134569	1.00[EUR][1000 genomes]
rs17134595	1.00[EUR][1000 genomes]
rs17134597	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134619	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2416285	1.00[EUR][1000 genomes]
rs28851506	1.00[EUR][1000 genomes]
rs2900063	1.00[EUR][1000 genomes]
rs3903144	1.00[EUR][1000 genomes]
rs3985058	1.00[EUR][1000 genomes]
rs4090543	1.00[EUR][1000 genomes]
rs57536989	1.00[EUR][1000 genomes]
rs59728660	1.00[EUR][1000 genomes]
rs59911735	1.00[EUR][1000 genomes]
rs60901135	1.00[EUR][1000 genomes]
rs6594594	1.00[EUR][1000 genomes]
rs6594596	1.00[EUR][1000 genomes]
rs6861534	1.00[EUR][1000 genomes]
rs6865127	1.00[EUR][1000 genomes]
rs6865907	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6866068	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6878092	1.00[EUR][1000 genomes]
rs721054	1.00[EUR][1000 genomes]
rs721055	1.00[EUR][1000 genomes]
rs73214232	1.00[EUR][1000 genomes]
rs73214236	1.00[EUR][1000 genomes]
rs73214243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73214250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73214252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73214255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73214261	1.00[EUR][1000 genomes]
rs73214264	1.00[EUR][1000 genomes]
rs73214269	1.00[EUR][1000 genomes]
rs73214270	1.00[EUR][1000 genomes]
rs73214274	1.00[EUR][1000 genomes]
rs73216591	1.00[EUR][1000 genomes]
rs73216602	1.00[EUR][1000 genomes]
rs73218303	1.00[EUR][1000 genomes]
rs73218309	1.00[EUR][1000 genomes]
rs73218315	1.00[EUR][1000 genomes]
rs73218319	1.00[EUR][1000 genomes]
rs73218335	1.00[EUR][1000 genomes]
rs73218339	1.00[EUR][1000 genomes]
rs73218340	1.00[EUR][1000 genomes]
rs73218345	1.00[EUR][1000 genomes]
rs73218347	1.00[EUR][1000 genomes]
rs73218348	1.00[EUR][1000 genomes]
rs73218349	1.00[EUR][1000 genomes]
rs73220307	1.00[EUR][1000 genomes]
rs73220310	1.00[EUR][1000 genomes]
rs73220313	1.00[EUR][1000 genomes]
rs73222143	1.00[EUR][1000 genomes]
rs73222145	1.00[EUR][1000 genomes]
rs73222146	1.00[EUR][1000 genomes]
rs73222148	1.00[EUR][1000 genomes]
rs73222150	1.00[EUR][1000 genomes]
rs73222155	1.00[EUR][1000 genomes]
rs73222163	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73222167	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7446816	1.00[EUR][1000 genomes]
rs7702999	1.00[EUR][1000 genomes]
rs7707028	1.00[EUR][1000 genomes]
rs7710041	1.00[EUR][1000 genomes]
rs7733415	1.00[EUR][1000 genomes]
rs821737	1.00[EUR][1000 genomes]
rs821740	1.00[EUR][1000 genomes]
rs821741	1.00[EUR][1000 genomes]
rs821742	1.00[EUR][1000 genomes]
rs821743	1.00[EUR][1000 genomes]
rs866597	1.00[EUR][1000 genomes]
rs956273	1.00[EUR][1000 genomes]
rs986797	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111810000-111815200	Weak transcription	HUVEC	blood vessel
2	chr5:111812000-111814200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:111812000-111815200	Weak transcription	NH-A	brain
4	chr5:111812200-111814000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:111812200-111814400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:111812200-111814800	Weak transcription	NHEK	skin
7	chr5:111812200-111815000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:111812200-111815400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:111812200-111816800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:111812400-111814400	Weak transcription	HMEC	breast
11	chr5:111812400-111816800	Weak transcription	Brain Substantia Nigra	brain
12	chr5:111813000-111814200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:111813800-111814200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:111813800-111814400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:111813800-111815800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:111813800-111816600	Enhancers	Placenta	Placenta
17	chr5:111813800-111817000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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