Variant report

Variant	rs11821269
Chromosome Location	chr11:86832005-86832006
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86818728..86820494-chr11:86831907..86834474,2	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1026410	0.81[ASN][1000 genomes]
rs10898598	0.87[ASN][1000 genomes]
rs11234974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234978	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11234979	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234981	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11234987	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234988	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235017	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11821284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824728	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825950	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271109	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12272942	0.88[AMR][1000 genomes]
rs12273408	0.81[ASN][1000 genomes]
rs12279443	0.81[ASN][1000 genomes]
rs12282651	0.81[ASN][1000 genomes]
rs12282966	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283115	0.81[ASN][1000 genomes]
rs12283210	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285441	0.81[ASN][1000 genomes]
rs12286867	0.81[ASN][1000 genomes]
rs12288001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758940	0.81[ASN][1000 genomes]
rs17759040	0.81[ASN][1000 genomes]
rs17820908	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2156765	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2220472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28822396	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35036190	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4315108	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4578415	0.81[ASN][1000 genomes]
rs4594023	0.81[ASN][1000 genomes]
rs471753	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs471929	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs473996	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs477156	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs478368	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs478883	0.91[AMR][1000 genomes]
rs479922	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs482450	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs489073	0.91[AMR][1000 genomes]
rs493611	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs502191	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs502427	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs504084	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs504628	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs505890	0.91[AMR][1000 genomes]
rs509359	0.91[AMR][1000 genomes]
rs509485	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs513938	0.91[AMR][1000 genomes]
rs515560	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs515623	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs516670	0.81[AMR][1000 genomes]
rs519956	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs528794	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs529147	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs531661	0.91[AMR][1000 genomes]
rs532442	0.91[AMR][1000 genomes]
rs533416	0.91[AMR][1000 genomes]
rs535384	0.91[AMR][1000 genomes]
rs537137	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs550773	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs554757	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55790509	0.81[ASN][1000 genomes]
rs560392	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs561463	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs564384	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56880471	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570898	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs570946	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs574378	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs574417	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs575496	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57664476	0.81[ASN][1000 genomes]
rs57722340	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs581079	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58190299	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587063	0.91[AMR][1000 genomes]
rs588499	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs589193	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs591818	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs605456	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60711353	0.81[ASN][1000 genomes]
rs61904170	0.81[ASN][1000 genomes]
rs61904173	0.81[ASN][1000 genomes]
rs61904191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61904209	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61904213	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61904215	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61904238	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61904240	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61905593	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs620313	0.91[AMR][1000 genomes]
rs621758	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs622473	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs624256	0.91[AMR][1000 genomes]
rs625552	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs631756	0.81[AMR][1000 genomes]
rs633629	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs638848	0.91[AMR][1000 genomes]
rs647371	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs649675	0.91[AMR][1000 genomes]
rs650170	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs652398	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs653419	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs654083	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs654152	0.91[AMR][1000 genomes]
rs654451	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs655951	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs662957	0.81[AMR][1000 genomes]
rs665234	0.91[AMR][1000 genomes]
rs665733	0.91[AMR][1000 genomes]
rs666987	0.91[AMR][1000 genomes]
rs668448	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs676503	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs679690	0.91[AMR][1000 genomes]
rs680192	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs681642	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7115725	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949330	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898058	chr11:86754948-86889284	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv898059	chr11:86754948-86949369	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	esv1844274	chr11:86776992-86872908	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1045057	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv541121	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv468777	chr11:86794856-86985581	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv555707	chr11:86794856-86985581	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv898060	chr11:86822077-86912633	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86788600-86836400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:86804600-86839400	Weak transcription	Fetal Kidney	kidney
3	chr11:86806800-86835800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:86809000-86844000	Weak transcription	Ovary	ovary
5	chr11:86809000-86876000	Weak transcription	Left Ventricle	heart
6	chr11:86816600-86838000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:86818200-86839200	Weak transcription	Fetal Lung	lung
8	chr11:86818200-86842800	Weak transcription	Aorta	Aorta
9	chr11:86818400-86842400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:86828800-86836200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:86829200-86832800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:86830800-86836000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:86831000-86838000	Weak transcription	HepG2	liver
14	chr11:86831600-86836000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:86831800-86832200	Enhancers	A549	lung
16	chr11:86832000-86832200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:86832000-86832400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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