Variant report

Variant	rs73909413
Chromosome Location	chr21:44724619-44724620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44722277..44726277-chr21:44726725..44730096,4	MCF-7	breast:
2	chr21:44714739..44716356-chr21:44724057..44727021,2	MCF-7	breast:
3	chr21:44595581..44597977-chr21:44722947..44725523,2	K562	blood:
4	chr21:44719242..44721879-chr21:44722324..44725954,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28718858	1.00[EUR][1000 genomes]
rs59325549	1.00[EUR][1000 genomes]
rs73374272	1.00[EUR][1000 genomes]
rs73376213	1.00[EUR][1000 genomes]
rs73376237	1.00[EUR][1000 genomes]
rs73376238	1.00[EUR][1000 genomes]
rs73376241	1.00[EUR][1000 genomes]
rs73906468	1.00[EUR][1000 genomes]
rs73906487	1.00[EUR][1000 genomes]
rs73906488	1.00[EUR][1000 genomes]
rs73906489	1.00[EUR][1000 genomes]
rs73906491	1.00[EUR][1000 genomes]
rs73906494	1.00[EUR][1000 genomes]
rs73906499	1.00[EUR][1000 genomes]
rs9976127	1.00[EUR][1000 genomes]
rs9978735	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv913833	chr21:44690691-44728354	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1817359	chr21:44699077-44821595	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv913834	chr21:44705881-44730990	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv913835	chr21:44705881-44749141	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1059062	chr21:44711272-44779969	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
11	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
12	nsv913836	chr21:44720807-44761874	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1058308	chr21:44722915-44825108	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44717600-44731200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:44718800-44726200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr21:44719000-44731000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr21:44719800-44726800	Weak transcription	Left Ventricle	heart
5	chr21:44720000-44725200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:44720400-44725000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr21:44720800-44726600	Weak transcription	Lung	lung
8	chr21:44721400-44726800	Weak transcription	NH-A	brain
9	chr21:44722400-44726200	Weak transcription	HMEC	breast
10	chr21:44722600-44724800	Bivalent Enhancer	HepG2	liver
11	chr21:44722800-44724800	Enhancers	Spleen	Spleen
12	chr21:44723000-44724800	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr21:44723400-44725600	Enhancers	Primary B cells from peripheral blood	blood
14	chr21:44723600-44726400	Weak transcription	Right Ventricle	heart
15	chr21:44723600-44726800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr21:44723600-44731000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr21:44723800-44727000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr21:44723800-44728000	Weak transcription	Ovary	ovary
19	chr21:44724000-44725000	Weak transcription	Pancreas	Pancrea
20	chr21:44724000-44726400	Weak transcription	GM12878-XiMat	blood
21	chr21:44724000-44728000	Weak transcription	Fetal Lung	lung
22	chr21:44724000-44738800	Weak transcription	Right Atrium	heart
23	chr21:44724200-44725000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:44724200-44726200	Weak transcription	Hela-S3	cervix
25	chr21:44724200-44726400	Weak transcription	Esophagus	oesophagus
26	chr21:44724200-44726600	Weak transcription	NHEK	skin
27	chr21:44724200-44727000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr21:44724400-44726200	Weak transcription	Fetal Heart	heart
29	chr21:44724400-44726400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr21:44724600-44725800	Weak transcription	Placenta	Placenta
31	chr21:44724600-44726800	Strong transcription	Fetal Intestine Small	intestine

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