Variant report

Variant	rs59143714
Chromosome Location	chr12:122130341-122130342
allele	C/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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122127725..122130645-chr12:122248269..122249908,2	MCF-7	breast:
2	chr12:122124453..122127425-chr12:122127713..122130672,3	K562	blood:
3	chr12:122124832..122127542-chr12:122129875..122131876,2	MCF-7	breast:
4	chr12:122129758..122132127-chr12:122239389..122241575,2	MCF-7	breast:
5	chr12:122129486..122132177-chr12:122133485..122135304,3	K562	blood:
6	chr12:122123715..122126577-chr12:122127730..122130596,2	K562	blood:
7	chr12:122129949..122131522-chr12:122133485..122135302,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11833075	0.95[ASN][1000 genomes]
rs35343615	1.00[EUR][1000 genomes]
rs4760119	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760120	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760122	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760124	1.00[EUR][1000 genomes]
rs55692746	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55699326	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55911302	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56166919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56790499	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57099146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57195740	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58648683	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59976026	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60637634	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227927	1.00[EUR][1000 genomes]
rs73227935	1.00[EUR][1000 genomes]
rs73227941	1.00[EUR][1000 genomes]
rs73227943	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73227944	1.00[EUR][1000 genomes]
rs73227945	1.00[EUR][1000 genomes]
rs73227946	0.93[EUR][1000 genomes]
rs73227949	1.00[EUR][1000 genomes]
rs73227954	1.00[EUR][1000 genomes]
rs7397580	0.83[EUR][1000 genomes]
rs7486943	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	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
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
2	chr12:122125400-122135200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:122125400-122137600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:122125400-122139200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:122125600-122135200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:122129400-122131000	Weak transcription	Fetal Heart	heart
7	chr12:122129400-122133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:122129400-122135000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:122129400-122139800	Weak transcription	A549	lung
10	chr12:122129600-122135200	Weak transcription	Osteobl	bone

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