Variant report

Variant	rs73482972
Chromosome Location	chr11:65019274-65019275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65017523..65022048-chr11:65027523..65031250,6	K562	blood:
2	chr11:64971198..64974258-chr11:65016139..65019477,3	MCF-7	breast:
3	chr11:65017012..65019675-chr11:65037350..65038889,2	K562	blood:
4	chr11:64972009..64972950-chr11:65018776..65019349,2	K562	blood:
5	chr11:64877392..64880177-chr11:65018001..65021656,4	MCF-7	breast:
6	chr11:64883265..64885368-chr11:65018165..65021241,3	K562	blood:
7	chr11:65017589..65019451-chr11:65025689..65027277,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000014216	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000254501	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1152621	1.00[EUR][1000 genomes]
rs11823327	1.00[EUR][1000 genomes]
rs11826426	1.00[EUR][1000 genomes]
rs11826954	1.00[EUR][1000 genomes]
rs1194339	1.00[EUR][1000 genomes]
rs17146805	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1784102	1.00[EUR][1000 genomes]
rs1939938	1.00[EUR][1000 genomes]
rs2307266	1.00[EUR][1000 genomes]
rs34286323	1.00[EUR][1000 genomes]
rs4149823	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4149824	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4149828	1.00[EUR][1000 genomes]
rs4149835	1.00[EUR][1000 genomes]
rs4149839	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647581	1.00[EUR][1000 genomes]
rs4647583	1.00[EUR][1000 genomes]
rs4647585	1.00[EUR][1000 genomes]
rs4647598	1.00[EUR][1000 genomes]
rs57267799	1.00[AFR][1000 genomes]
rs58771438	1.00[EUR][1000 genomes]
rs59598510	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59646878	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60315122	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61072220	1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482248	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482250	1.00[EUR][1000 genomes]
rs73482254	1.00[EUR][1000 genomes]
rs73482257	1.00[EUR][1000 genomes]
rs73482268	1.00[EUR][1000 genomes]
rs73482938	1.00[EUR][1000 genomes]
rs73482957	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482959	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482962	1.00[EUR][1000 genomes]
rs73482975	1.00[EUR][1000 genomes]
rs73484340	1.00[EUR][1000 genomes]
rs73484344	1.00[EUR][1000 genomes]
rs73484345	1.00[EUR][1000 genomes]
rs73484944	1.00[EUR][1000 genomes]
rs73484950	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484954	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484963	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484966	1.00[AFR][1000 genomes]
rs73484971	1.00[EUR][1000 genomes]
rs73484972	1.00[EUR][1000 genomes]
rs73484981	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484989	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv976461	chr11:65000821-65054446	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65015200-65028600	Weak transcription	Fetal Intestine Small	intestine
2	chr11:65016400-65028600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:65018400-65019400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:65018400-65028600	Weak transcription	Liver	Liver
5	chr11:65019000-65019400	Enhancers	HSMMtube	muscle
6	chr11:65019200-65019400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:65019200-65019400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:65019200-65019600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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