Variant report

Variant	rs57047868
Chromosome Location	chr11:67342609-67342610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67342418..67343049-chr11:67374587..67375122,2	MCF-7	breast:
2	chr11:67342273..67345213-chr11:67395722..67399867,4	K562	blood:
3	chr11:67309805..67311983-chr11:67342547..67345264,2	K562	blood:
4	chr11:67342278..67344841-chr11:67347504..67351094,3	K562	blood:

Variant related genes	Relation type
ENSG00000084207	Chromatin interaction
ENSG00000167799	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10896175	1.00[EUR][1000 genomes]
rs11227796	1.00[EUR][1000 genomes]
rs11227804	1.00[EUR][1000 genomes]
rs11821703	1.00[EUR][1000 genomes]
rs12288316	1.00[EUR][1000 genomes]
rs12293606	1.00[EUR][1000 genomes]
rs1382089	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1618605	1.00[EUR][1000 genomes]
rs1620333	1.00[EUR][1000 genomes]
rs1624189	1.00[EUR][1000 genomes]
rs1625032	1.00[EUR][1000 genomes]
rs1625892	1.00[EUR][1000 genomes]
rs1630068	1.00[EUR][1000 genomes]
rs1632616	1.00[EUR][1000 genomes]
rs1638558	1.00[EUR][1000 genomes]
rs1638559	1.00[EUR][1000 genomes]
rs1638560	1.00[EUR][1000 genomes]
rs1638561	1.00[EUR][1000 genomes]
rs1638562	1.00[EUR][1000 genomes]
rs1638563	1.00[EUR][1000 genomes]
rs1638570	1.00[EUR][1000 genomes]
rs1638572	1.00[EUR][1000 genomes]
rs1638575	1.00[EUR][1000 genomes]
rs1638576	1.00[EUR][1000 genomes]
rs1638577	1.00[EUR][1000 genomes]
rs1638581	1.00[EUR][1000 genomes]
rs1638584	1.00[EUR][1000 genomes]
rs1638587	1.00[EUR][1000 genomes]
rs1790729	1.00[EUR][1000 genomes]
rs1790730	1.00[EUR][1000 genomes]
rs1790734	1.00[EUR][1000 genomes]
rs1790736	1.00[EUR][1000 genomes]
rs1790741	1.00[EUR][1000 genomes]
rs1790743	1.00[EUR][1000 genomes]
rs1790744	1.00[EUR][1000 genomes]
rs1790745	1.00[EUR][1000 genomes]
rs1790749	1.00[EUR][1000 genomes]
rs1790750	1.00[EUR][1000 genomes]
rs1790754	1.00[EUR][1000 genomes]
rs1790756	1.00[EUR][1000 genomes]
rs1790763	1.00[EUR][1000 genomes]
rs1790764	1.00[EUR][1000 genomes]
rs1790765	1.00[EUR][1000 genomes]
rs1824712	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2054409	1.00[EUR][1000 genomes]
rs2447590	1.00[EUR][1000 genomes]
rs2447591	1.00[EUR][1000 genomes]
rs2447597	1.00[EUR][1000 genomes]
rs2511058	1.00[EUR][1000 genomes]
rs2511059	1.00[EUR][1000 genomes]
rs2514013	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2514014	1.00[EUR][1000 genomes]
rs2514015	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2514018	0.85[AMR][1000 genomes]
rs2514024	1.00[EUR][1000 genomes]
rs2514045	1.00[EUR][1000 genomes]
rs2514064	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2514262	1.00[EUR][1000 genomes]
rs2514263	1.00[EUR][1000 genomes]
rs2885171	1.00[EUR][1000 genomes]
rs3016861	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35363135	1.00[EUR][1000 genomes]
rs36052107	1.00[EUR][1000 genomes]
rs5019164	1.00[EUR][1000 genomes]
rs56050553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56102510	1.00[EUR][1000 genomes]
rs56405884	1.00[EUR][1000 genomes]
rs57134963	1.00[EUR][1000 genomes]
rs57749415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57757103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57955602	1.00[EUR][1000 genomes]
rs58999825	1.00[EUR][1000 genomes]
rs59500232	1.00[EUR][1000 genomes]
rs596431	1.00[EUR][1000 genomes]
rs596944	1.00[EUR][1000 genomes]
rs601363	1.00[EUR][1000 genomes]
rs60136955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60251934	1.00[EUR][1000 genomes]
rs602720	1.00[EUR][1000 genomes]
rs604540	1.00[EUR][1000 genomes]
rs60521870	1.00[EUR][1000 genomes]
rs611697	1.00[EUR][1000 genomes]
rs61282424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61429992	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61610719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs618633	1.00[EUR][1000 genomes]
rs641081	1.00[EUR][1000 genomes]
rs6591267	1.00[EUR][1000 genomes]
rs7104627	1.00[EUR][1000 genomes]
rs7121803	1.00[EUR][1000 genomes]
rs7124630	1.00[EUR][1000 genomes]
rs73490545	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490554	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73506004	1.00[EUR][1000 genomes]
rs73506015	1.00[EUR][1000 genomes]
rs73506048	1.00[AMR][1000 genomes]
rs73506054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73506056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73506069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73506074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs743679	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7934566	1.00[EUR][1000 genomes]
rs7947114	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8191436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8191446	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8191449	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949250	1.00[EUR][1000 genomes]
rs949251	1.00[EUR][1000 genomes]
rs949252	1.00[EUR][1000 genomes]
rs949253	1.00[EUR][1000 genomes]
rs949254	1.00[EUR][1000 genomes]
rs949255	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	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	chr11:67339800-67343200	Enhancers	HUVEC	blood vessel
3	chr11:67340600-67346800	Weak transcription	Pancreas	Pancrea
4	chr11:67340800-67344800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:67340800-67346600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:67341200-67345600	Weak transcription	HepG2	liver
7	chr11:67341400-67346000	Weak transcription	Fetal Intestine Large	intestine
8	chr11:67341400-67346600	Weak transcription	A549	lung
9	chr11:67341600-67344000	Weak transcription	K562	blood
10	chr11:67342200-67342800	Enhancers	Stomach Mucosa	stomach
11	chr11:67342200-67342800	Enhancers	NHEK	skin
12	chr11:67342400-67342800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:67342600-67345600	Weak transcription	Fetal Intestine Small	intestine
14	chr11:67342600-67347000	Weak transcription	Hela-S3	cervix

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