Variant report

Variant	rs2091243
Chromosome Location	chr21:40895322-40895323
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	SIN3AK20	chr21:40895214-40896652	MCF-7	breast:	n/a	n/a
2	USF1	chr21:40895302-40895592	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:40894588..40897351-chr21:41015543..41018234,2	MCF-7	breast:
2	chr21:40894704..40896899-chr21:40951352..40952979,2	MCF-7	breast:
3	chr21:40891710..40894102-chr21:40894328..40895948,2	MCF-7	breast:
4	chr21:40895232..40897422-chr21:40987219..40990019,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235012	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11088480	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1522	1.00[EUR][1000 genomes]
rs16997780	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2091242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2103152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2837056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2837057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2837058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2837060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2837061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2837062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2837064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2837065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2837066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2837067	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57239120	0.96[EUR][1000 genomes]
rs7281425	1.00[EUR][1000 genomes]
rs7281794	1.00[EUR][1000 genomes]
rs7282142	0.96[EUR][1000 genomes]
rs7283949	0.96[EUR][1000 genomes]
rs8130969	0.96[EUR][1000 genomes]
rs8131078	0.96[EUR][1000 genomes]
rs8133147	1.00[EUR][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	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	nsv1062088	chr21:40838027-40919253	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40848200-40895600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr21:40875800-40898600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr21:40876400-40897400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:40877400-40899600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:40880200-40899800	Weak transcription	Fetal Muscle Leg	muscle
6	chr21:40888200-40895400	Weak transcription	Fetal Brain Male	brain
7	chr21:40888200-40907400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr21:40890200-40897400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:40890800-40895600	Weak transcription	Adipose Nuclei	Adipose
10	chr21:40891000-40895400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr21:40891000-40895400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr21:40891000-40895600	Weak transcription	Brain Hippocampus Middle	brain
13	chr21:40893800-40895800	Enhancers	Fetal Heart	heart
14	chr21:40894400-40896600	Enhancers	Stomach Mucosa	stomach
15	chr21:40894400-40901600	Enhancers	Pancreas	Pancrea
16	chr21:40894600-40896000	Enhancers	Gastric	stomach
17	chr21:40894600-40896200	Enhancers	Left Ventricle	heart
18	chr21:40894600-40896200	Enhancers	Psoas Muscle	Psoas
19	chr21:40894600-40896200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr21:40894800-40895800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr21:40894800-40895800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr21:40894800-40896000	Enhancers	Duodenum Mucosa	Duodenum
23	chr21:40894800-40896200	Enhancers	Aorta	Aorta
24	chr21:40894800-40896200	Enhancers	Right Ventricle	heart
25	chr21:40894800-40897800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr21:40894800-40897800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr21:40895000-40896200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr21:40895200-40895800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr21:40895200-40896000	Enhancers	Brain Substantia Nigra	brain
30	chr21:40895200-40896000	Enhancers	Lung	lung
31	chr21:40895200-40896400	Enhancers	Liver	Liver
32	chr21:40895200-40896400	Enhancers	Colon Smooth Muscle	Colon
33	chr21:40895200-40897600	Enhancers	Brain Anterior Caudate	brain

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