Variant report

Variant	rs58516770
Chromosome Location	chr12:122447647-122447648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122444926..122447764-chr12:122458397..122461144,2	K562	blood:
2	chr12:122244343..122246026-chr12:122447313..122449275,2	K562	blood:
3	chr12:122445617..122452949-chr12:122456112..122461928,13	MCF-7	breast:
4	chr12:122445744..122449221-chr12:122451078..122453446,3	K562	blood:
5	chr12:122440790..122443569-chr12:122445704..122448468,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255856	Chromatin interaction
ENSG00000110987	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11043275	0.85[ASN][1000 genomes]
rs1824949	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1851597	0.87[AMR][1000 genomes]
rs2004863	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2004864	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2076860	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272132	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3741581	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55778445	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57298119	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58025403	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58026220	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58158474	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58642707	0.84[EUR][1000 genomes]
rs58651804	0.83[AFR][1000 genomes]
rs59116149	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59178789	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59695002	0.84[EUR][1000 genomes]
rs60620185	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6486792	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6486793	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7138299	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7138556	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7294535	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7294829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303779	0.90[EUR][1000 genomes]
rs7314352	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7964151	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs830125	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs872781	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884785	0.87[EUR][1000 genomes]
rs884786	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122442600-122458800	Weak transcription	Aorta	Aorta
2	chr12:122443000-122449000	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:122443000-122458800	Weak transcription	Brain Anterior Caudate	brain
4	chr12:122443400-122458800	Weak transcription	Right Ventricle	heart
5	chr12:122443400-122459000	Weak transcription	Right Atrium	heart
6	chr12:122443600-122448400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:122444600-122458600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:122444800-122449200	Enhancers	Fetal Thymus	thymus
9	chr12:122445000-122447800	Enhancers	Thymus	Thymus
10	chr12:122445000-122448600	Enhancers	Primary B cells from cord blood	blood
11	chr12:122446000-122451400	Weak transcription	Dnd41	blood
12	chr12:122446600-122448200	Enhancers	GM12878-XiMat	blood
13	chr12:122447000-122448200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:122447200-122448200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:122447200-122448200	Enhancers	Spleen	Spleen
16	chr12:122447400-122447800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr12:122447400-122448400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:122447400-122448600	Weak transcription	Adipose Nuclei	Adipose
19	chr12:122447400-122449800	Weak transcription	HSMMtube	muscle

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