Variant report

Variant	rs16998166
Chromosome Location	chr21:41095692-41095693
allele	G/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	ESR1	chr21:41095377-41095734	T-47D	breast:	n/a	chr21:41095544-41095561 chr21:41095544-41095559 chr21:41095543-41095560
2	NR2F2	chr21:41095260-41095719	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:40895962..40896593-chr21:41095361..41096036,2	MCF-7	breast:
2	chr21:41038787..41039328-chr21:41095472..41096012,2	MCF-7	breast:
3	chr21:40899345..40899885-chr21:41095454..41095987,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231713	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10483058	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11909296	0.83[ASN][1000 genomes]
rs12233297	0.85[ASN][1000 genomes]
rs12233347	0.85[ASN][1000 genomes]
rs12233349	0.82[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs12626178	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12626186	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12626201	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12626282	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12627345	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12627452	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16998157	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16998163	0.99[ASN][1000 genomes]
rs2410177	0.93[ASN][1000 genomes]
rs2410178	0.93[ASN][1000 genomes]
rs2837128	0.81[ASN][1000 genomes]
rs55707904	0.85[ASN][1000 genomes]
rs55901439	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57845654	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57952155	0.85[ASN][1000 genomes]
rs58098823	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58955754	0.93[ASN][1000 genomes]
rs59101778	0.86[ASN][1000 genomes]
rs59297136	0.94[EUR][1000 genomes]
rs59990779	0.85[ASN][1000 genomes]
rs60661700	0.86[ASN][1000 genomes]
rs62235484	0.94[EUR][1000 genomes]
rs62235485	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62235486	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62235487	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62235490	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62235491	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62235496	0.93[ASN][1000 genomes]
rs62235497	0.93[ASN][1000 genomes]
rs62235511	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7282484	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73363758	0.93[ASN][1000 genomes]
rs73904403	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73904404	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8127272	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8127619	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv834099	chr21:41076873-41206030	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41075800-41101800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:41079400-41109600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:41083200-41103000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:41088200-41105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:41091000-41102400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:41092600-41106400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:41095400-41108000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:41095600-41098400	Weak transcription	Pancreas	Pancrea

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