Variant report

Variant	rs13047961
Chromosome Location	chr21:45291099-45291100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45291069..45293875-chr21:45339586..45342577,2	K562	blood:
2	chr1:9692688..9694194-chr21:45288971..45291909,2	K562	blood:
3	chr21:45288706..45291944-chr21:45293288..45295731,3	MCF-7	breast:
4	chr21:45289119..45291947-chr21:45336176..45338497,2	K562	blood:
5	chr21:45262417..45264171-chr21:45290181..45291751,2	K562	blood:
6	chr21:45289974..45292578-chr21:45344758..45347739,2	K562	blood:
7	chr21:45289119..45291555-chr21:45336176..45338160,3	K562	blood:
8	chr21:45283392..45285849-chr21:45288020..45292209,4	MCF-7	breast:
9	chr21:45288734..45291186-chr21:45298713..45301345,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199598	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11089107	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11702314	0.86[ASN][1000 genomes]
rs12483101	0.89[ASN][1000 genomes]
rs13049717	0.86[ASN][1000 genomes]
rs13050512	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1573473	0.92[ASN][1000 genomes]
rs2014085	0.94[ASN][1000 genomes]
rs2070541	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2329581	0.84[ASN][1000 genomes]
rs2838429	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8128978	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8131889	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9637176	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9637232	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9637233	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9976744	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[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	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
5	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv3538	chr21:45267674-45297159	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45286000-45300400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:45286600-45292600	Weak transcription	Aorta	Aorta
3	chr21:45286800-45293800	Weak transcription	HSMMtube	muscle
4	chr21:45286800-45299800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr21:45287000-45293800	Weak transcription	HSMM	muscle
6	chr21:45287000-45297600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr21:45287000-45299800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:45287000-45304200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr21:45287200-45292600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:45287200-45292600	Weak transcription	Ovary	ovary
11	chr21:45287200-45293000	Weak transcription	Osteobl	bone
12	chr21:45287200-45295200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:45287200-45299400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:45287200-45299600	Weak transcription	NHDF-Ad	bronchial
15	chr21:45287200-45300000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:45287400-45292600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr21:45287400-45292600	Weak transcription	Brain Angular Gyrus	brain
18	chr21:45287400-45292600	Weak transcription	Brain Germinal Matrix	brain
19	chr21:45287400-45293600	Strong transcription	Fetal Stomach	stomach
20	chr21:45287400-45296200	Weak transcription	Fetal Heart	heart
21	chr21:45287400-45297600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:45287400-45299400	Weak transcription	Right Atrium	heart
23	chr21:45287400-45299600	Weak transcription	Brain Substantia Nigra	brain
24	chr21:45287400-45299800	Weak transcription	Hela-S3	cervix
25	chr21:45287400-45300200	Weak transcription	HUVEC	blood vessel
26	chr21:45287400-45300200	Weak transcription	NH-A	brain
27	chr21:45287400-45330200	Weak transcription	Fetal Kidney	kidney
28	chr21:45287600-45291200	Weak transcription	Small Intestine	intestine
29	chr21:45287600-45291600	Strong transcription	Fetal Thymus	thymus
30	chr21:45287600-45292600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr21:45287600-45292600	Weak transcription	Lung	lung
32	chr21:45287600-45292600	Weak transcription	Spleen	Spleen
33	chr21:45287600-45292800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr21:45287600-45292800	Weak transcription	Adipose Nuclei	Adipose
35	chr21:45287600-45293400	Strong transcription	Fetal Muscle Leg	muscle
36	chr21:45287600-45294200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr21:45287600-45299400	Weak transcription	Brain Anterior Caudate	brain
38	chr21:45287600-45299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr21:45287600-45300000	Weak transcription	A549	lung
40	chr21:45287600-45307200	Weak transcription	Fetal Brain Male	brain
41	chr21:45287800-45293600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr21:45288200-45292400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr21:45288200-45292600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr21:45288200-45300000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr21:45288200-45300200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr21:45288200-45324200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr21:45288400-45291200	Weak transcription	Gastric	stomach
48	chr21:45288400-45291600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr21:45288400-45293400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr21:45288400-45294200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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