Variant report

Variant	rs72953934
Chromosome Location	chr11:85193570-85193571
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:85193511..85195081-chr16:33965594..33967907,2	MCF-7	breast:
2	chr11:85193525..85196750-chr20:26187839..26191543,6	K562	blood:
3	chr11:85193511..85196736-chr17:33476647..33479728,15	K562	blood:
4	chr11:85193537..85196743-chr16:33959805..33967587,15	K562	blood:
5	chr11:85193550..85196726-chr21:9824306..9828726,11	K562	blood:
6	chr11:85193550..85196769-chr21:9824428..9828726,11	K562	blood:
7	chr11:85193566..85195120-chr16:33965483..33967840,2	MCF-7	breast:
8	chr11:85193511..85196736-chr17:33476657..33479798,16	K562	blood:

No data

Variant related genes	Relation type
ENSG00000207986	Chromatin interaction
ENSG00000256642	Chromatin interaction
ENSG00000200434	Chromatin interaction
ENSG00000264063	Chromatin interaction
ENSG00000264462	Chromatin interaction
ENSG00000227195	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11827749	0.80[ASN][1000 genomes]
rs1509812	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17810490	0.81[EUR][1000 genomes]
rs17810611	0.92[EUR][1000 genomes]
rs1812352	0.80[ASN][1000 genomes]
rs1876872	0.94[ASN][1000 genomes]
rs1912266	0.94[ASN][1000 genomes]
rs2213116	0.81[EUR][1000 genomes]
rs494119	0.81[ASN][1000 genomes]
rs57104960	0.85[EUR][1000 genomes]
rs57431471	0.81[ASN][1000 genomes]
rs57494426	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58117031	0.92[EUR][1000 genomes]
rs58649506	0.92[EUR][1000 genomes]
rs59464672	0.92[EUR][1000 genomes]
rs59713586	0.89[EUR][1000 genomes]
rs616309	0.81[ASN][1000 genomes]
rs645798	0.81[ASN][1000 genomes]
rs72950167	0.81[EUR][1000 genomes]
rs72950169	0.81[EUR][1000 genomes]
rs72950175	0.81[EUR][1000 genomes]
rs72950176	0.81[EUR][1000 genomes]
rs72950181	0.81[EUR][1000 genomes]
rs72950182	0.81[EUR][1000 genomes]
rs72950186	0.81[EUR][1000 genomes]
rs72951917	0.85[EUR][1000 genomes]
rs72951920	0.92[EUR][1000 genomes]
rs72951948	0.89[EUR][1000 genomes]
rs72951958	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72951961	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72951976	0.92[EUR][1000 genomes]
rs72951982	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72951984	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72951987	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72951995	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72952002	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72953904	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72953907	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72953908	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72953913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72953914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72953916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72953921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72953925	0.94[ASN][1000 genomes]
rs72953926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72953932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72953938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72953967	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72953977	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72953982	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72953987	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72953991	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72953995	0.81[ASN][1000 genomes]
rs72955904	0.81[ASN][1000 genomes]
rs7938874	0.94[ASN][1000 genomes]
rs7947098	0.85[EUR][1000 genomes]
rs7951307	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044370	chr11:84748993-85293233	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv898044	chr11:84895033-85220773	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv1035905	chr11:85130543-85220773	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1050363	chr11:85163437-85293233	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv541111	chr11:85163437-85293233	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv898046	chr11:85180409-85300458	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh 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	47 gene(s)	inside rSNPs	diseases
10	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
11	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85181800-85194800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:85184000-85194800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:85184200-85194800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:85184400-85194800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:85184400-85194800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:85187200-85194800	Weak transcription	Fetal Lung	lung
7	chr11:85192800-85193600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:85192800-85193600	ZNF genes & repeats	Pancreas	Pancrea
9	chr11:85193400-85193600	ZNF genes & repeats	Ovary	ovary

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