Variant report

Variant	rs2037030
Chromosome Location	chr11:72370200-72370201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr11:72370115-72370318	K562	blood:	n/a	n/a
2	USF2	chr11:72370117-72370389	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72369829..72371970-chr11:72373026..72375175,2	K562	blood:
2	chr11:72352692..72354361-chr11:72368071..72370416,2	K562	blood:
3	chr11:72353566..72355741-chr11:72369161..72371805,2	MCF-7	breast:

Variant related genes	Relation type
PDE2A	TF binding region
ENSG00000255808	Chromatin interaction
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11235556	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11235557	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235558	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235559	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146545	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12362256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12363065	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576046	0.86[ASN][1000 genomes]
rs12576058	0.86[ASN][1000 genomes]
rs12786302	0.84[ASN][1000 genomes]
rs12787293	0.86[ASN][1000 genomes]
rs12797368	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797791	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12799451	0.86[ASN][1000 genomes]
rs12802369	0.84[ASN][1000 genomes]
rs12804316	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391888	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs163694	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs168175	0.90[ASN][1000 genomes]
rs1872126	0.84[ASN][1000 genomes]
rs189332	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2035467	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs341051	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs341052	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs341053	0.85[ASN][1000 genomes]
rs341060	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs341061	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs341062	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34142547	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34173798	0.83[ASN][1000 genomes]
rs342322	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34285624	0.86[ASN][1000 genomes]
rs34802028	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35748558	0.86[ASN][1000 genomes]
rs3758934	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3758935	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3758936	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3781913	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781916	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs455611	0.83[ASN][1000 genomes]
rs458275	0.84[ASN][1000 genomes]
rs56133505	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7119321	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7126790	0.91[ASN][1000 genomes]
rs907853	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs907854	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs907856	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs907857	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs907858	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs932074	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs932075	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
4	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72361800-72379400	Weak transcription	Brain Angular Gyrus	brain
2	chr11:72364400-72370400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:72365200-72379200	Weak transcription	Fetal Brain Female	brain
4	chr11:72366600-72370600	Weak transcription	Brain Anterior Caudate	brain
5	chr11:72367800-72371600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:72368200-72379600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:72368400-72373200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:72368800-72379400	Weak transcription	Brain Germinal Matrix	brain
9	chr11:72369000-72370800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:72369000-72371400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:72370000-72370400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:72370200-72370400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:72370200-72370800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr11:72370200-72371200	Enhancers	Skeletal Muscle Female	skeletal muscle

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