Variant report

Variant	rs11043230
Chromosome Location	chr12:122323298-122323299
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000256950	TF binding region
PSMD9	TF binding region
ENSG00000139718	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11829393	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310449	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313193	0.87[AMR][1000 genomes]
rs12316702	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13378033	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413792	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73415604	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73415607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974677	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
5	esv3417525	chr12:122321837-122324560	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122321400-122325800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:122321400-122326000	Weak transcription	Right Atrium	heart
3	chr12:122321400-122326200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:122321400-122326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:122321800-122325600	Weak transcription	Liver	Liver
6	chr12:122321800-122325600	Weak transcription	Hela-S3	cervix
7	chr12:122321800-122325800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:122321800-122326000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:122322000-122325600	Weak transcription	K562	blood
10	chr12:122322000-122325800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:122322000-122325800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:122322000-122326000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:122323000-122325600	Weak transcription	HepG2	liver
14	chr12:122323200-122323400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:122323200-122325800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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