Variant report

Variant	rs72941392
Chromosome Location	chr11:77710266-77710267
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:77691216..77693251-chr11:77709176..77711368,2	MCF-7	breast:
2	chr11:77707797..77710429-chr11:77715233..77717227,2	K562	blood:
3	chr11:77705384..77708206-chr11:77709854..77711861,2	K562	blood:
4	chr11:77706148..77708206-chr11:77708508..77712088,3	K562	blood:
5	chr11:77530463..77532833-chr11:77709797..77712048,2	K562	blood:
6	chr11:77488328..77491203-chr11:77709162..77710811,2	K562	blood:

Variant related genes	Relation type
ENSG00000048649	Chromatin interaction
ENSG00000149262	Chromatin interaction
ENSG00000087884	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17136094	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3824865	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56360479	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7118818	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72941378	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72941381	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72941390	0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs72943018	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72943021	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73503585	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1035753	chr11:77577384-77866386	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv541093	chr11:77577384-77866386	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77706400-77710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:77706400-77711000	Weak transcription	Pancreas	Pancrea
3	chr11:77706600-77710400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:77706600-77710800	Weak transcription	Brain Substantia Nigra	brain
5	chr11:77706600-77711000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:77706600-77711000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:77706600-77711000	Weak transcription	Brain Germinal Matrix	brain
8	chr11:77706600-77711000	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:77706600-77711000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:77706600-77711000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:77706600-77711000	Weak transcription	HepG2	liver
12	chr11:77706600-77711200	Weak transcription	Brain Anterior Caudate	brain
13	chr11:77706600-77711200	Weak transcription	Fetal Heart	heart
14	chr11:77706600-77713400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:77706800-77711000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:77706800-77711000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:77707200-77711000	Weak transcription	Dnd41	blood
18	chr11:77709400-77712400	Enhancers	Primary B cells from peripheral blood	blood
19	chr11:77709600-77711600	Enhancers	Primary B cells from cord blood	blood
20	chr11:77710200-77711000	Enhancers	Primary hematopoietic stem cells	blood
21	chr11:77710200-77711600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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