Variant report

Variant	rs932075
Chromosome Location	chr11:72365255-72365256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72310303..72312102-chr11:72363033..72365890,2	MCF-7	breast:
2	chr11:72341496..72343582-chr11:72364594..72367336,2	MCF-7	breast:
3	chr11:72364782..72367221-chr11:72388172..72389961,2	K562	blood:
4	chr11:72335997..72337699-chr11:72363120..72365299,2	K562	blood:
5	chr11:72362926..72365327-chr11:72366143..72368389,2	MCF-7	breast:
6	chr11:72168860..72170475-chr11:72364322..72366473,2	MCF-7	breast:
7	chr11:72352579..72354601-chr11:72363980..72365561,2	K562	blood:

Variant related genes	Relation type
ENSG00000186642	Chromatin interaction
ENSG00000255808	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11235551	0.86[ASN][1000 genomes]
rs11235556	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11235557	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11235558	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11235559	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12146545	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276767	0.86[ASN][1000 genomes]
rs12362256	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12363065	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12797368	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12797791	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12804316	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1391888	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs163694	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs168175	0.87[EUR][1000 genomes]
rs189332	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2035467	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2037030	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs341051	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs341052	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs341060	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs341061	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs341062	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs342322	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3758934	0.83[AMR][1000 genomes]
rs3758935	0.82[ASN][1000 genomes]
rs3758936	0.82[ASN][1000 genomes]
rs3781913	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3781916	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3825009	0.85[ASN][1000 genomes]
rs401801	0.82[ASN][1000 genomes]
rs455611	0.95[ASN][1000 genomes]
rs456405	0.81[ASN][1000 genomes]
rs458275	0.96[ASN][1000 genomes]
rs458575	0.86[ASN][1000 genomes]
rs56133505	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61895572	0.86[ASN][1000 genomes]
rs7105428	0.82[ASN][1000 genomes]
rs7119321	0.95[ASN][1000 genomes]
rs7126790	0.81[ASN][1000 genomes]
rs907853	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs907854	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs907856	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs907857	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs907858	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs932074	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs932075	PDE2A,MIR139	cis	intralobular white matter	BrainEAC

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72361800-72379400	Weak transcription	Brain Angular Gyrus	brain
2	chr11:72363400-72366000	Enhancers	Brain Anterior Caudate	brain
3	chr11:72363400-72369400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:72363600-72365600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:72363800-72365400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:72363800-72365800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr11:72363800-72368000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:72364200-72365400	Enhancers	Brain Germinal Matrix	brain
9	chr11:72364400-72368200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:72364400-72370400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:72364600-72365800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr11:72364600-72367400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:72364600-72367400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:72364600-72368000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:72364600-72368000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:72364600-72368000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:72365000-72365400	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:72365000-72365600	Weak transcription	Gastric	stomach
19	chr11:72365000-72366400	Weak transcription	Fetal Brain Male	brain
20	chr11:72365000-72367800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:72365000-72368600	Weak transcription	Spleen	Spleen
22	chr11:72365200-72367000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:72365200-72367600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:72365200-72368000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:72365200-72379200	Weak transcription	Fetal Brain Female	brain

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