Variant report

Variant	rs11088484
Chromosome Location	chr21:40925508-40925509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40919721..40922141-chr21:40925056..40927590,2	MCF-7	breast:
2	chr21:40918819..40921569-chr21:40925046..40926881,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11700626	0.81[JPT][hapmap]
rs11701943	0.81[JPT][hapmap]
rs12626648	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12626661	0.83[ASN][1000 genomes]
rs13050627	0.81[JPT][hapmap]
rs2837075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2837077	0.82[AMR][1000 genomes]
rs2837094	0.81[JPT][hapmap]
rs28644269	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4372991	0.93[ASN][1000 genomes]
rs4818051	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818059	0.81[JPT][hapmap]
rs516888	0.83[ASN][1000 genomes]
rs517871	0.83[ASN][1000 genomes]
rs521559	0.83[ASN][1000 genomes]
rs527987	0.94[ASN][1000 genomes]
rs56178310	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs574863	0.83[ASN][1000 genomes]
rs587935	0.83[ASN][1000 genomes]
rs588903	0.83[ASN][1000 genomes]
rs619766	0.83[ASN][1000 genomes]
rs656582	0.80[ASN][1000 genomes]
rs656618	0.87[ASN][1000 genomes]
rs670316	0.93[ASN][1000 genomes]
rs680944	0.83[ASN][1000 genomes]
rs681447	0.83[ASN][1000 genomes]
rs7410119	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8127424	0.87[ASN][1000 genomes]
rs8128108	0.87[ASN][1000 genomes]
rs8130455	0.89[ASN][1000 genomes]
rs9983116	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	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
3	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv34779	chr21:40884871-40977473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv433457	chr21:40900348-40964553	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	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
8	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
9	esv17842	chr21:40918970-40965975	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40922800-40926200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr21:40924400-40925600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr21:40924800-40926200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr21:40924800-40926400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr21:40925000-40925600	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr21:40925000-40926200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr21:40925000-40926600	Enhancers	Fetal Heart	heart
8	chr21:40925200-40925600	Enhancers	Brain Anterior Caudate	brain
9	chr21:40925200-40927000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:40925400-40925600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:40925400-40926600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr21:40925400-40926600	Enhancers	Fetal Muscle Leg	muscle

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