Variant report

Variant	rs11229621
Chromosome Location	chr11:58553950-58553951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58397577..58400348-chr11:58551728..58554179,2	K562	blood:
2	chr11:58344812..58347551-chr11:58552824..58556823,4	K562	blood:

Variant related genes	Relation type
ENSG00000186660	Chromatin interaction
ENSG00000255073	Chromatin interaction
ENSG00000110031	Chromatin interaction

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10501373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10750905	0.85[EUR][1000 genomes]
rs10792188	0.85[EUR][1000 genomes]
rs10792189	0.85[EUR][1000 genomes]
rs10792203	0.85[EUR][1000 genomes]
rs10896831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10896855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11229624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11229660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11229665	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11229669	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11229675	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11229681	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11229685	0.81[AMR][1000 genomes]
rs12365539	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12576002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1893630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1938700	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1938706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1938710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1938712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1938720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1938721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1938726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1938727	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1943275	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1943286	0.85[EUR][1000 genomes]
rs1943287	0.85[EUR][1000 genomes]
rs1943288	0.85[EUR][1000 genomes]
rs1943289	0.81[EUR][1000 genomes]
rs1943290	0.85[EUR][1000 genomes]
rs1943291	0.85[EUR][1000 genomes]
rs1943292	0.85[EUR][1000 genomes]
rs1943293	0.85[EUR][1000 genomes]
rs1943294	0.85[EUR][1000 genomes]
rs1943295	0.85[EUR][1000 genomes]
rs1943296	0.85[EUR][1000 genomes]
rs1943297	0.85[EUR][1000 genomes]
rs1943298	0.85[EUR][1000 genomes]
rs1943300	0.85[EUR][1000 genomes]
rs1943301	0.81[EUR][1000 genomes]
rs1943306	0.85[EUR][1000 genomes]
rs2156348	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2156351	0.85[EUR][1000 genomes]
rs2212844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2212850	0.85[EUR][1000 genomes]
rs2226794	0.85[EUR][1000 genomes]
rs2497369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2507835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2849853	0.85[EUR][1000 genomes]
rs2849854	0.85[EUR][1000 genomes]
rs2856259	0.85[EUR][1000 genomes]
rs3020908	0.85[EUR][1000 genomes]
rs3020909	0.85[EUR][1000 genomes]
rs34745169	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4103678	0.85[EUR][1000 genomes]
rs4554906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs490828	0.85[EUR][1000 genomes]
rs492802	0.85[EUR][1000 genomes]
rs493659	0.85[EUR][1000 genomes]
rs4939237	0.85[EUR][1000 genomes]
rs494174	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs496601	0.85[EUR][1000 genomes]
rs497348	0.85[EUR][1000 genomes]
rs499891	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs511857	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs512832	0.85[EUR][1000 genomes]
rs513590	0.85[EUR][1000 genomes]
rs518089	0.85[EUR][1000 genomes]
rs519043	0.85[EUR][1000 genomes]
rs519256	0.85[EUR][1000 genomes]
rs519310	0.85[EUR][1000 genomes]
rs520075	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs524689	0.81[EUR][1000 genomes]
rs526640	0.81[EUR][1000 genomes]
rs529734	0.81[EUR][1000 genomes]
rs531737	0.81[EUR][1000 genomes]
rs535234	0.85[EUR][1000 genomes]
rs537098	0.85[EUR][1000 genomes]
rs539085	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs540592	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs542683	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs545803	0.85[EUR][1000 genomes]
rs547469	0.85[EUR][1000 genomes]
rs547540	0.85[EUR][1000 genomes]
rs549519	0.85[EUR][1000 genomes]
rs552887	0.85[EUR][1000 genomes]
rs558013	0.81[EUR][1000 genomes]
rs558099	0.85[EUR][1000 genomes]
rs558146	0.85[EUR][1000 genomes]
rs558403	0.85[EUR][1000 genomes]
rs561676	0.85[EUR][1000 genomes]
rs563687	0.85[EUR][1000 genomes]
rs564570	0.85[EUR][1000 genomes]
rs567460	0.85[EUR][1000 genomes]
rs574497	0.85[EUR][1000 genomes]
rs576050	0.85[EUR][1000 genomes]
rs587953	0.85[EUR][1000 genomes]
rs591856	0.85[EUR][1000 genomes]
rs592308	0.85[EUR][1000 genomes]
rs598767	0.85[EUR][1000 genomes]
rs599254	0.85[EUR][1000 genomes]
rs600215	0.85[EUR][1000 genomes]
rs600559	0.85[EUR][1000 genomes]
rs608998	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs610165	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs611013	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs614365	0.85[EUR][1000 genomes]
rs615237	0.85[EUR][1000 genomes]
rs615701	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs621584	0.81[EUR][1000 genomes]
rs622512	0.85[EUR][1000 genomes]
rs625951	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs628312	0.85[EUR][1000 genomes]
rs630551	0.85[EUR][1000 genomes]
rs631452	0.85[EUR][1000 genomes]
rs635588	0.85[EUR][1000 genomes]
rs642957	0.85[EUR][1000 genomes]
rs643881	0.85[EUR][1000 genomes]
rs644312	0.85[EUR][1000 genomes]
rs657792	0.85[EUR][1000 genomes]
rs660503	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs665148	0.81[EUR][1000 genomes]
rs666476	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs668254	0.81[EUR][1000 genomes]
rs675815	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs678346	0.85[EUR][1000 genomes]
rs678880	0.85[EUR][1000 genomes]
rs679551	0.81[EUR][1000 genomes]
rs680053	0.81[EUR][1000 genomes]
rs680976	0.81[EUR][1000 genomes]
rs682357	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832168	chr11:58394060-58564651	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1048605	chr11:58534660-58672438	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1045858	chr11:58547772-58674568	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1052173	chr11:58553516-58678496	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv523481	chr11:58553771-58632368	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv525355	chr11:58553771-58632368	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr11:58551800-58555400	Weak transcription	Fetal Intestine Large	intestine
2	chr11:58553600-58554400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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