Variant report

Variant	rs73980789
Chromosome Location	chr17:19893190-19893191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs56178618	0.97[AFR][1000 genomes]
rs57127528	1.00[AMR][1000 genomes]
rs57853272	0.97[AFR][1000 genomes]
rs58334454	1.00[AMR][1000 genomes]
rs58338147	1.00[AMR][1000 genomes]
rs58524683	0.97[AFR][1000 genomes]
rs58748150	1.00[AMR][1000 genomes]
rs59704385	0.94[AFR][1000 genomes]
rs60321315	1.00[AMR][1000 genomes]
rs60740483	1.00[AMR][1000 genomes]
rs7215558	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7221750	0.97[AFR][1000 genomes]
rs7225930	1.00[AMR][1000 genomes]
rs73980725	0.91[AFR][1000 genomes]
rs73980727	0.94[AFR][1000 genomes]
rs73980759	0.94[AFR][1000 genomes]
rs73980761	0.97[AFR][1000 genomes]
rs73980764	0.97[AFR][1000 genomes]
rs73980785	0.97[AFR][1000 genomes]
rs73980787	0.97[AFR][1000 genomes]
rs73980790	1.00[AMR][1000 genomes]
rs73980791	1.00[AMR][1000 genomes]
rs73980793	1.00[AMR][1000 genomes]
rs73980794	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980795	1.00[AMR][1000 genomes]
rs73980797	1.00[AMR][1000 genomes]
rs73981806	1.00[AMR][1000 genomes]
rs73981808	1.00[AMR][1000 genomes]
rs73981810	1.00[AMR][1000 genomes]
rs73984562	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984563	1.00[AMR][1000 genomes]
rs8064839	0.94[AFR][1000 genomes]
rs8066256	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8073950	0.91[AFR][1000 genomes]
rs8082216	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr17:19890600-19899800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr17:19890800-19896400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr17:19890800-19899400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:19890800-19899800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:19890800-19899800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:19891000-19894000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr17:19891000-19894200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:19891400-19894200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:19891400-19894400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr17:19891400-19894800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:19891400-19896400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:19891600-19899800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr17:19891800-19894800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:19891800-19896400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr17:19892000-19896400	Weak transcription	K562	blood
16	chr17:19892200-19893800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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