Variant report

Variant	rs57153990
Chromosome Location	chr4:120282671-120282672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11727068	0.85[AFR][1000 genomes]
rs11727963	0.85[AFR][1000 genomes]
rs11728178	0.86[AFR][1000 genomes]
rs11735260	0.85[AFR][1000 genomes]
rs13122306	0.86[AFR][1000 genomes]
rs13139711	0.83[AFR][1000 genomes]
rs17050184	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17517470	0.86[AFR][1000 genomes]
rs17595769	0.86[AFR][1000 genomes]
rs17595790	0.86[AFR][1000 genomes]
rs28374283	1.00[EUR][1000 genomes]
rs34084107	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3817230	0.86[AFR][1000 genomes]
rs3817242	0.86[AFR][1000 genomes]
rs60058568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320716	0.83[AFR][1000 genomes]
rs62320717	0.83[AFR][1000 genomes]
rs62320718	0.86[AFR][1000 genomes]
rs62320720	0.86[AFR][1000 genomes]
rs62320721	0.84[AFR][1000 genomes]
rs62320722	0.86[AFR][1000 genomes]
rs62320723	0.86[AFR][1000 genomes]
rs62320724	0.86[AFR][1000 genomes]
rs62320725	0.86[AFR][1000 genomes]
rs62320731	0.86[AFR][1000 genomes]
rs62320732	0.86[AFR][1000 genomes]
rs62320733	0.81[AFR][1000 genomes]
rs72912496	1.00[EUR][1000 genomes]
rs72914405	1.00[EUR][1000 genomes]
rs72914408	1.00[EUR][1000 genomes]
rs72914420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72914448	1.00[EUR][1000 genomes]
rs72914449	1.00[EUR][1000 genomes]
rs72914466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72916519	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918504	0.86[AFR][1000 genomes]
rs72920606	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv428769	chr4:120205572-120363323	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv879841	chr4:120244085-120388406	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2538163	chr4:120252854-120388678	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv964091	chr4:120255342-120290951	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120269600-120293000	Weak transcription	Fetal Heart	heart
2	chr4:120282600-120290000	Weak transcription	HepG2	liver

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