Variant report

Variant	rs10082857
Chromosome Location	chr12:86348573-86348574
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	chr12:86348551-86348703	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:86348557..86349487-chr12:88241812..88242801,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258178	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10779220	1.00[ASN][1000 genomes]
rs10779224	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10863094	0.83[ASN][1000 genomes]
rs10863111	1.00[ASN][1000 genomes]
rs10863112	1.00[ASN][1000 genomes]
rs10863113	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863114	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10863121	0.84[AFR][1000 genomes]
rs10863124	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11117089	0.83[ASN][1000 genomes]
rs11117115	1.00[ASN][1000 genomes]
rs11117118	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11117122	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11117124	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117129	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11117148	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11608539	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11611607	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615948	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369468	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12370270	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17354637	1.00[ASN][1000 genomes]
rs2897186	0.83[ASN][1000 genomes]
rs4143239	0.83[ASN][1000 genomes]
rs4919774	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61929393	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61929394	1.00[ASN][1000 genomes]
rs61929395	1.00[ASN][1000 genomes]
rs61929399	0.83[ASN][1000 genomes]
rs61929421	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61929424	0.83[ASN][1000 genomes]
rs61930913	0.83[ASN][1000 genomes]
rs7132262	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7135154	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7136221	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7303256	1.00[ASN][1000 genomes]
rs7307686	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73176252	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73177142	0.83[ASN][1000 genomes]
rs73177167	0.92[ASN][1000 genomes]
rs73177169	0.92[ASN][1000 genomes]
rs73177179	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485853	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7966131	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7972773	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7973694	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7975310	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7976573	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9651977	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv1797806	chr12:86198935-86425608	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv559667	chr12:86318004-86416212	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86347600-86348600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr12:86347800-86348600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:86348200-86350000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:86348400-86349400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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