Variant report

Variant	rs7276521
Chromosome Location	chr21:44728360-44728361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44726728..44729245-chr21:44741716..44743499,2	K562	blood:
2	chr21:44726831..44728745-chr21:44729014..44732051,4	MCF-7	breast:
3	chr21:44727065..44728697-chr21:44937489..44939216,2	MCF-7	breast:
4	chr21:44727213..44729404-chr21:44763537..44765714,2	MCF-7	breast:
5	chr21:44728233..44730962-chr21:44748665..44750400,2	MCF-7	breast:
6	chr21:44722277..44726277-chr21:44726725..44730096,4	MCF-7	breast:
7	chr21:44727094..44729103-chr21:44732251..44734088,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11203178	1.00[EUR][1000 genomes]
rs11908865	1.00[EUR][1000 genomes]
rs28560107	1.00[EUR][1000 genomes]
rs73376275	1.00[EUR][1000 genomes]
rs8128881	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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:42 , 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	chr21:44719000-44731000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:44723600-44731000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr21:44724000-44738800	Weak transcription	Right Atrium	heart
5	chr21:44724800-44728800	Enhancers	Fetal Muscle Leg	muscle
6	chr21:44725800-44728800	Enhancers	Placenta	Placenta
7	chr21:44726000-44729800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr21:44726200-44728400	Enhancers	Fetal Heart	heart
9	chr21:44726200-44728600	Enhancers	HSMMtube	muscle
10	chr21:44726200-44728800	Enhancers	Fetal Muscle Trunk	muscle
11	chr21:44726800-44728400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr21:44726800-44729200	Genic enhancers	Fetal Intestine Small	intestine
13	chr21:44727000-44731000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr21:44727400-44728400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr21:44727600-44728600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:44727600-44728600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:44727600-44731000	Weak transcription	Pancreas	Pancrea
18	chr21:44727600-44731200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:44727600-44731200	Weak transcription	A549	lung
20	chr21:44727600-44731600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:44727800-44729000	Weak transcription	Left Ventricle	heart
22	chr21:44727800-44730200	Weak transcription	Fetal Intestine Large	intestine
23	chr21:44727800-44730800	Weak transcription	NHEK	skin
24	chr21:44727800-44731000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr21:44727800-44731000	Weak transcription	Stomach Mucosa	stomach
26	chr21:44727800-44731200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr21:44727800-44731200	Weak transcription	Esophagus	oesophagus
28	chr21:44728000-44728600	Enhancers	Hela-S3	cervix
29	chr21:44728000-44729000	Enhancers	Fetal Lung	lung
30	chr21:44728000-44729000	Weak transcription	Gastric	stomach
31	chr21:44728000-44729200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr21:44728000-44729400	Enhancers	Ovary	ovary
33	chr21:44728000-44730600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr21:44728000-44731000	Weak transcription	Fetal Thymus	thymus
35	chr21:44728000-44731200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr21:44728000-44731200	Weak transcription	GM12878-XiMat	blood
37	chr21:44728000-44731200	Weak transcription	HMEC	breast
38	chr21:44728000-44731400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr21:44728000-44732600	Weak transcription	Primary B cells from cord blood	blood
40	chr21:44728200-44731200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr21:44728200-44732200	Weak transcription	Spleen	Spleen
42	chr21:44728200-44738400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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