Variant report

Variant	rs11727963
Chromosome Location	chr4:120278100-120278101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11727068	0.93[AFR][1000 genomes]
rs11728178	0.99[AFR][1000 genomes]
rs11734808	0.91[CEU][hapmap];1.00[YRI][hapmap]
rs11735260	0.93[AFR][1000 genomes]
rs11737560	0.91[CEU][hapmap]
rs13106878	0.91[CEU][hapmap]
rs13113462	0.91[CEU][hapmap]
rs13116789	0.80[CEU][hapmap]
rs13122306	0.99[AFR][1000 genomes]
rs13124532	0.82[CEU][hapmap]
rs13127517	0.91[CEU][hapmap];1.00[YRI][hapmap]
rs13139711	0.96[AFR][1000 genomes]
rs13144426	0.91[CEU][hapmap]
rs1397611	0.91[CEU][hapmap];1.00[YRI][hapmap]
rs1511021	0.91[CEU][hapmap]
rs1511022	0.89[CEU][hapmap]
rs17050312	0.91[CEU][hapmap]
rs17517470	0.99[AFR][1000 genomes]
rs17595769	0.99[AFR][1000 genomes]
rs17595790	0.99[AFR][1000 genomes]
rs2036859	0.81[AFR][1000 genomes]
rs35646004	0.91[CEU][hapmap]
rs3817230	0.99[AFR][1000 genomes]
rs3817242	0.99[AFR][1000 genomes]
rs56818816	0.82[AFR][1000 genomes]
rs57153990	0.85[AFR][1000 genomes]
rs60058568	0.85[AFR][1000 genomes]
rs62320716	0.96[AFR][1000 genomes]
rs62320717	0.96[AFR][1000 genomes]
rs62320718	0.99[AFR][1000 genomes]
rs62320720	0.99[AFR][1000 genomes]
rs62320721	0.96[AFR][1000 genomes]
rs62320722	0.99[AFR][1000 genomes]
rs62320723	0.99[AFR][1000 genomes]
rs62320724	0.99[AFR][1000 genomes]
rs62320725	0.99[AFR][1000 genomes]
rs62320731	0.99[AFR][1000 genomes]
rs62320732	0.99[AFR][1000 genomes]
rs62320733	0.97[AFR][1000 genomes]
rs62320735	0.90[AFR][1000 genomes]
rs62320736	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72918504	0.99[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
10	esv3512786	chr4:120275104-120279402	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
11	esv3512787	chr4:120275104-120279402	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11727963	RP11-33B1.1	cis	Thyroid	GTEx
rs11727963	LOC645513	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120269600-120293000	Weak transcription	Fetal Heart	heart
2	chr4:120278000-120278400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:120278000-120278400	Enhancers	Skeletal Muscle Female	skeletal muscle

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