Variant report

Variant	rs17778313
Chromosome Location	chr5:100109716-100109717
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10478648	0.92[AMR][1000 genomes]
rs17159001	0.89[EUR][1000 genomes]
rs17160818	0.91[AMR][1000 genomes]
rs17719528	0.83[AMR][1000 genomes]
rs17720901	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17721341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17721790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17722713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17722756	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17723146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17725086	1.00[AMR][1000 genomes]
rs17725882	1.00[AMR][1000 genomes]
rs17726376	1.00[AMR][1000 genomes]
rs17775827	0.83[AMR][1000 genomes]
rs17775983	0.83[AMR][1000 genomes]
rs17776515	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17776916	0.85[EUR][1000 genomes]
rs17777079	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17777349	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17778120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17778217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17778440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17778487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17778598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17778786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17779305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17779694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17779731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17780072	1.00[AMR][1000 genomes]
rs17780121	1.00[AMR][1000 genomes]
rs17780854	1.00[AMR][1000 genomes]
rs17780992	1.00[AMR][1000 genomes]
rs17781289	1.00[AMR][1000 genomes]
rs17782650	1.00[AMR][1000 genomes]
rs57652761	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6864470	1.00[AFR][1000 genomes]
rs6866516	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73777435	1.00[AMR][1000 genomes]
rs73777437	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948969	chr5:99534096-100133827	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1017420	chr5:99745775-100133140	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv537825	chr5:99745775-100133140	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	esv2762532	chr5:100041758-100136552	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100108600-100111400	Weak transcription	GM12878-XiMat	blood
2	chr5:100109000-100110600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:100109000-100110800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:100109200-100110200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:100109200-100113000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:100109200-100113200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:100109200-100113200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:100109200-100113200	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links