Variant report

Variant	rs6591248
Chromosome Location	chr11:67340972-67340973
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67339086..67341329-chr11:67409211..67412100,2	K562	blood:
2	chr11:67272254..67275085-chr11:67340755..67342282,2	K562	blood:
3	chr11:67339423..67341248-chr11:67342794..67345312,3	K562	blood:
4	chr11:67339734..67342343-chr11:67345681..67348171,3	MCF-7	breast:
5	chr11:67339423..67342315-chr11:67342794..67345312,3	K562	blood:

Variant related genes	Relation type
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10082595	0.87[AFR][1000 genomes]
rs10896187	0.90[AFR][1000 genomes]
rs11227829	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227843	0.86[AFR][1000 genomes]
rs11227847	0.88[AFR][1000 genomes]
rs11227853	0.90[AFR][1000 genomes]
rs11227856	0.90[AFR][1000 genomes]
rs11227858	0.90[AFR][1000 genomes]
rs11227859	0.83[AFR][1000 genomes]
rs11227863	0.86[AFR][1000 genomes]
rs11227864	0.88[AFR][1000 genomes]
rs11227867	0.87[AFR][1000 genomes]
rs11227870	0.82[AFR][1000 genomes]
rs11227872	0.87[AFR][1000 genomes]
rs11501414	0.87[AFR][1000 genomes]
rs12270939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271238	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12273818	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274182	1.00[AMR][1000 genomes]
rs12275583	0.91[AFR][1000 genomes]
rs12277603	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279654	0.91[AFR][1000 genomes]
rs12280141	1.00[AMR][1000 genomes]
rs12281959	0.82[AFR][1000 genomes]
rs12283777	0.90[AFR][1000 genomes]
rs12284337	0.83[AFR][1000 genomes]
rs12285190	0.87[AFR][1000 genomes]
rs12285294	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285568	0.90[AFR][1000 genomes]
rs12286629	0.93[AFR][1000 genomes]
rs12287042	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288767	0.90[AFR][1000 genomes]
rs12288862	0.90[AFR][1000 genomes]
rs12288915	0.83[AFR][1000 genomes]
rs12291838	1.00[AMR][1000 genomes]
rs12291861	0.87[AFR][1000 genomes]
rs12292686	1.00[AMR][1000 genomes]
rs12293712	0.83[AFR][1000 genomes]
rs12293788	1.00[AMR][1000 genomes]
rs12295232	0.90[AFR][1000 genomes]
rs12295962	1.00[AMR][1000 genomes]
rs28856416	0.87[AFR][1000 genomes]
rs28894705	0.90[AFR][1000 genomes]
rs7102855	0.80[AFR][1000 genomes]
rs7112719	0.87[AFR][1000 genomes]
rs7129806	0.87[AFR][1000 genomes]
rs8191431	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8191448	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9651716	0.83[AFR][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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
6	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
7	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67336400-67345200	Weak transcription	Gastric	stomach
2	chr11:67339800-67341000	Enhancers	GM12878-XiMat	blood
3	chr11:67339800-67341400	Enhancers	Fetal Intestine Large	intestine
4	chr11:67339800-67343200	Enhancers	HUVEC	blood vessel
5	chr11:67340200-67341200	Flanking Active TSS	K562	blood
6	chr11:67340400-67341000	Flanking Active TSS	Hela-S3	cervix
7	chr11:67340400-67341200	Enhancers	Stomach Mucosa	stomach
8	chr11:67340600-67341600	Enhancers	Fetal Intestine Small	intestine
9	chr11:67340600-67346800	Weak transcription	Pancreas	Pancrea
10	chr11:67340800-67341200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:67340800-67341200	Enhancers	HepG2	liver
12	chr11:67340800-67341400	Enhancers	A549	lung
13	chr11:67340800-67344800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:67340800-67346600	Weak transcription	Duodenum Mucosa	Duodenum

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