Variant report

Variant	rs72869808
Chromosome Location	chr11:5224733-5224734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5222789-5225325..11:5714465-5718134	K562	blood:
2	11:5222789-5225325..11:5527719-5533869	K562	blood:
3	11:5222789-5225325..11:5250847-5268367	K562	blood:
4	11:5222789-5225325..11:5700314-5707362	K562	blood:
5	chr11:5150178..5155699-chr11:5220911..5225581,8	K562	blood:
6	chr11:5218102..5224405-chr11:5224720..5231093,9	K562	blood:
7	11:5222789-5225325..11:5616559-5618985	H1-hESC	embryonic stem cell:	embryo
8	chr11:5222818..5224901-chr11:5309713..5311258,2	K562	blood:
9	11:5222789-5225325..11:5469844-5475173	K562	blood:
10	11:5146608-5154908..11:5222789-5225325	K562	blood:
11	11:5222789-5225325..11:5533869-5541626	K562	blood:
12	chr11:5224202..5227710-chr11:5524990..5527435,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000229988	Chromatin interaction
ENSG00000175520	Chromatin interaction
ENSG00000223609	Chromatin interaction
ENSG00000121236	Chromatin interaction
ENSG00000258588	Chromatin interaction
ENSG00000187918	Chromatin interaction
ENSG00000213931	Chromatin interaction
ENSG00000196565	Chromatin interaction
ENSG00000167355	Chromatin interaction
ENSG00000176742	Chromatin interaction
ENSG00000132274	Chromatin interaction
ENSG00000260629	Chromatin interaction
ENSG00000171944	Chromatin interaction
ENSG00000132256	Chromatin interaction
ENSG00000175518	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55820509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61736992	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72869806	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72869809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72869810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72869869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72869870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72869871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72869873	0.88[AFR][1000 genomes]
rs72869874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760169	chr11:4961518-5233821	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1042613	chr11:5173410-5336839	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1051488	chr11:5175477-5258490	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1048593	chr11:5183176-5261470	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1045187	chr11:5183176-5262622	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1052798	chr11:5184546-5269330	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1052750	chr11:5187571-5338802	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv1048350	chr11:5189296-5225842	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
9	nsv896929	chr11:5192095-5271671	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1049387	chr11:5192334-5231273	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv540941	chr11:5192334-5231273	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv1038871	chr11:5192334-5301415	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	nsv540942	chr11:5192334-5301415	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	nsv1048355	chr11:5192334-5336839	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
15	esv2752788	chr11:5193410-5226318	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv523914	chr11:5207389-5231565	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5217600-5226000	Weak transcription	NHLF	lung
2	chr11:5223000-5229600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:5223200-5224800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:5223200-5224800	Weak transcription	K562	blood
5	chr11:5224200-5226200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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