Variant report

Variant	rs35178815
Chromosome Location	chr21:15436605-15436606
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	chr21:15436221-15436810	IMR90	lung:	n/a	n/a
2	MYC	chr21:15435893-15436891	MCF-7	breast:	n/a	chr21:15436870-15436880
3	ELF1	chr21:15436026-15436913	MCF-7	breast:	n/a	chr21:15436326-15436335 chr21:15436858-15436870 chr21:15436560-15436572 chr21:15436325-15436336 chr21:15436339-15436351
4	MXI1	chr21:15436544-15437055	IMR90	lung:	n/a	n/a
5	MYC	chr21:15436026-15436877	MCF-7	breast:	n/a	n/a
6	HA-E2F1	chr21:15436001-15436976	MCF-7	breast:	n/a	chr21:15436562-15436571 chr21:15436271-15436281
7	ELF1	chr21:15436528-15436820	SK-N-SH	brain:	n/a	chr21:15436560-15436572
8	POLR2A	chr21:15436053-15436938	MCF-7	breast:	n/a	n/a
9	POLR2A	chr21:15436047-15436655	ProgFib	skin:	n/a	n/a
10	MAX	chr21:15436542-15436822	SK-N-SH	brain:	n/a	n/a
11	GABPA	chr21:15436540-15436830	MCF-7	breast:	n/a	chr21:15436562-15436571
12	MAX	chr21:15436109-15436881	MCF-7	breast:	n/a	chr21:15436870-15436880
13	POLR2A	chr21:15435961-15436981	MCF-7	breast:	n/a	n/a
14	ELF1	chr21:15435975-15436884	MCF-7	breast:	n/a	chr21:15436326-15436335 chr21:15436858-15436870 chr21:15436560-15436572 chr21:15436325-15436336 chr21:15436339-15436351
15	POLR2A	chr21:15436014-15436894	MCF-7	breast:	n/a	n/a
16	MAX	chr21:15436447-15436909	MCF-7	breast:	n/a	chr21:15436870-15436880
17	MAX	chr21:15436594-15436811	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ANKRD20A18P	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13046630	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13048438	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28385573	1.00[ASN][1000 genomes]
rs28494907	0.82[EUR][1000 genomes]
rs34338538	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35827720	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4611722	0.83[EUR][1000 genomes]
rs60821881	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6516571	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7283986	1.00[ASN][1000 genomes]
rs7364079	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8129930	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35178815	ANKRD20A18P	cis	Esophagus Mucosa	GTEx

Chromatin state (count:42 , 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	chr21:15428800-15449000	Weak transcription	Fetal Lung	lung
8	chr21:15430400-15442400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:15433000-15442200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:15433000-15442400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:15434000-15437600	ZNF genes & repeats	Fetal Brain Female	brain
12	chr21:15434600-15437000	ZNF genes & repeats	Brain Germinal Matrix	brain
13	chr21:15435600-15436800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:15435600-15436800	ZNF genes & repeats	Fetal Stomach	stomach
15	chr21:15435800-15436800	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr21:15435800-15437200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr21:15435800-15438400	Active TSS	Esophagus	oesophagus
18	chr21:15436000-15436800	Active TSS	NHLF	lung
19	chr21:15436000-15437000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr21:15436000-15437000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr21:15436000-15437000	Active TSS	Brain Anterior Caudate	brain
22	chr21:15436000-15437000	Active TSS	Brain Cingulate Gyrus	brain
23	chr21:15436000-15437000	Active TSS	Left Ventricle	heart
24	chr21:15436000-15437000	Active TSS	Right Atrium	heart
25	chr21:15436000-15437000	Active TSS	NH-A	brain
26	chr21:15436000-15437200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr21:15436000-15437200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr21:15436000-15437400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:15436000-15437400	Active TSS	Stomach Smooth Muscle	stomach
30	chr21:15436000-15437600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr21:15436200-15437000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr21:15436200-15437000	Active TSS	Aorta	Aorta
33	chr21:15436200-15437000	Active TSS	Brain Angular Gyrus	brain
34	chr21:15436200-15437000	Active TSS	Brain Hippocampus Middle	brain
35	chr21:15436200-15437000	Active TSS	Pancreas	Pancrea
36	chr21:15436400-15436800	Active TSS	Gastric	stomach
37	chr21:15436400-15437000	Active TSS	Primary hematopoietic stem cells	blood
38	chr21:15436400-15437000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr21:15436400-15439000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr21:15436400-15442400	Weak transcription	Thymus	Thymus
41	chr21:15436600-15437000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr21:15436600-15437200	Active TSS	Hela-S3	cervix

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