Variant report

Variant	rs68130860
Chromosome Location	chr2:111477532-111477533
allele	C/T
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	POLR2A	chr2:111477515-111477643	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111475433..111477903-chr2:111484707..111487125,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235881	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12474907	0.92[EUR][1000 genomes]
rs13388313	0.92[EUR][1000 genomes]
rs13421709	1.00[EUR][1000 genomes]
rs13426054	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56146538	0.83[ASN][1000 genomes]
rs56260092	0.83[ASN][1000 genomes]
rs57862073	0.83[ASN][1000 genomes]
rs66616139	0.84[ASN][1000 genomes]
rs6728168	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6752335	0.88[EUR][1000 genomes]
rs72828843	1.00[ASN][1000 genomes]
rs72828844	1.00[ASN][1000 genomes]
rs72828845	1.00[ASN][1000 genomes]
rs72828846	0.87[ASN][1000 genomes]
rs72828847	1.00[EUR][1000 genomes]
rs72828848	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828849	0.83[ASN][1000 genomes]
rs72828850	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72828851	0.83[ASN][1000 genomes]
rs72828852	0.83[ASN][1000 genomes]
rs7592058	0.92[EUR][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	nsv1008581	chr2:110826262-111487021	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111474600-111478000	Enhancers	Ovary	ovary
2	chr2:111475000-111478400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:111475200-111477800	Weak transcription	Right Atrium	heart
4	chr2:111475200-111479600	Weak transcription	Aorta	Aorta
5	chr2:111475800-111481000	Weak transcription	GM12878-XiMat	blood
6	chr2:111476400-111478400	Enhancers	Placenta	Placenta
7	chr2:111477200-111478400	Enhancers	Liver	Liver
8	chr2:111477400-111477600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:111477400-111477800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:111477400-111477800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:111477400-111478400	Enhancers	Left Ventricle	heart

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