Variant report

Variant	rs35044800
Chromosome Location	chr21:15435916-15435917
allele	A/G
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	CTCF	chr21:15435871-15436360	MCF-7	breast:	n/a	chr21:15436278-15436291
2	MYC	chr21:15435893-15436891	MCF-7	breast:	n/a	chr21:15436870-15436880
3	MAZ	chr21:15435902-15436466	IMR90	lung:	n/a	n/a
4	CTCF	chr21:15435861-15436321	MCF-7	breast:	n/a	chr21:15436278-15436291
5	CTCF	chr21:15435900-15436134	MCF-7	breast:	n/a	n/a
6	CTCF	chr21:15435855-15436216	A549	lung:	n/a	n/a
7	CTCF	chr21:15435862-15436154	A549	lung:	n/a	n/a
8	CTCF	chr21:15435884-15436277	MCF-7	breast:	n/a	n/a
9	CTCF	chr21:15435890-15436167	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ANKRD20A18P	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11087899	0.93[ASN][1000 genomes]
rs11910192	0.86[ASN][1000 genomes]
rs12626227	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12626229	0.89[ASN][1000 genomes]
rs2822395	0.83[ASN][1000 genomes]
rs28494907	0.86[ASN][1000 genomes]
rs4611722	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56332780	0.86[ASN][1000 genomes]
rs7282062	0.87[ASN][1000 genomes]
rs8130888	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8131071	0.83[ASN][1000 genomes]
rs9977899	0.97[ASN][1000 genomes]
rs9984275	0.85[ASN][1000 genomes]
rs9984614	0.90[ASN][1000 genomes]
rs9984654	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1067433	chr21:14736298-15507502	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1055396	chr21:14756514-15507502	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1062639	chr21:14775729-15507502	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv587015	chr21:14957973-15448560	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1058072	chr21:15372509-15568171	Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1056787	chr21:15407504-15530291	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv964485	chr21:15431964-15437845	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
9	nsv979524	chr21:15431964-15441809	Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	n/a
10	esv3358889	chr21:15434106-15436654	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15401800-15452000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr21:15402600-15442400	Weak transcription	Dnd41	blood
3	chr21:15423000-15442200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:15423400-15455600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr21:15423600-15443000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:15425800-15443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:15427200-15436200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:15428200-15436000	Weak transcription	Right Atrium	heart
9	chr21:15428800-15449000	Weak transcription	Fetal Lung	lung
10	chr21:15429200-15436000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:15429400-15436000	Weak transcription	Pancreas	Pancrea
12	chr21:15430400-15442400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:15431000-15436000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr21:15431200-15436000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr21:15431200-15436200	Weak transcription	Aorta	Aorta
16	chr21:15433000-15436400	Weak transcription	Gastric	stomach
17	chr21:15433000-15442200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:15433000-15442400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:15434000-15437600	ZNF genes & repeats	Fetal Brain Female	brain
20	chr21:15434600-15437000	ZNF genes & repeats	Brain Germinal Matrix	brain
21	chr21:15435400-15436600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr21:15435600-15436800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:15435600-15436800	ZNF genes & repeats	Fetal Stomach	stomach
24	chr21:15435800-15436800	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr21:15435800-15437200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr21:15435800-15438400	Active TSS	Esophagus	oesophagus

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