Variant report

Variant	rs28669314
Chromosome Location	chr21:44608339-44608340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44602074..44605807-chr21:44607173..44611012,3	MCF-7	breast:
2	chr21:44599423..44602035-chr21:44607332..44609772,2	MCF-7	breast:
3	chr16:85525435..85527837-chr21:44607025..44609626,2	MCF-7	breast:
4	chr21:44606064..44608919-chr21:44684304..44686950,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2839644	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2839645	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2839646	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28502758	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28564100	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28578556	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28699137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7278568	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913812	chr21:44213057-44686358	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1060276	chr21:44550394-44628579	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv913832	chr21:44579105-44768562	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3325660	chr21:44605783-44610081	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44599200-44614200	Weak transcription	Right Atrium	heart
2	chr21:44600200-44611200	Weak transcription	Primary T cells from cord blood	blood
3	chr21:44605400-44608800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:44606200-44613600	Weak transcription	Esophagus	oesophagus
5	chr21:44607000-44609200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:44607000-44609400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:44607200-44609200	Enhancers	Brain Germinal Matrix	brain
8	chr21:44607400-44613600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr21:44607800-44609200	Enhancers	Fetal Brain Female	brain
10	chr21:44607800-44609400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr21:44607800-44611600	Enhancers	Primary B cells from peripheral blood	blood
12	chr21:44608000-44608800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr21:44608000-44609000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:44608000-44609000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr21:44608000-44609800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr21:44608000-44611000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:44608200-44609400	Weak transcription	HSMMtube	muscle
18	chr21:44608200-44609600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:44608200-44611000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:44608200-44611000	Weak transcription	Pancreas	Pancrea
21	chr21:44608200-44611800	Enhancers	Fetal Brain Male	brain
22	chr21:44608200-44613600	Weak transcription	Spleen	Spleen

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