Variant report

Variant	rs1882734
Chromosome Location	chr21:40212344-40212345
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40207571..40212513-chr21:40281866..40285274,6	MCF-7	breast:
2	chr21:40203275..40206794-chr21:40210041..40212530,5	MCF-7	breast:
3	chr21:40191810..40193575-chr21:40211576..40213668,2	K562	blood:
4	chr21:40205616..40208986-chr21:40210258..40212560,3	MCF-7	breast:
5	chr21:40206775..40209110-chr21:40210646..40213517,2	K562	blood:
6	chr21:40180758..40183425-chr21:40212038..40214532,3	K562	blood:
7	chr21:40210912..40213065-chr21:40219265..40221347,3	K562	blood:
8	chr21:40190407..40192977-chr21:40211375..40214122,2	MCF-7	breast:
9	chr21:40209482..40212563-chr21:40213470..40216289,3	MCF-7	breast:
10	chr21:40211369..40213824-chr21:40223080..40225148,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1009122	0.83[EUR][1000 genomes]
rs1009123	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11700716	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13047489	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13047716	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13048664	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1534827	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1893203	0.83[EUR][1000 genomes]
rs1893204	0.83[EUR][1000 genomes]
rs2015748	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2836697	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2836700	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2836703	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs374575	0.86[EUR][1000 genomes]
rs455328	0.85[EUR][1000 genomes]
rs456574	0.93[EUR][1000 genomes]
rs464366	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs464476	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs468057	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55938987	0.83[EUR][1000 genomes]
rs7276433	0.83[EUR][1000 genomes]
rs7281107	0.83[EUR][1000 genomes]
rs7281192	0.83[EUR][1000 genomes]
rs7281242	0.83[EUR][1000 genomes]
rs7281259	0.83[EUR][1000 genomes]
rs7281698	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs877372	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs909103	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh 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	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 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	chr21:40195000-40212600	Weak transcription	Right Atrium	heart
2	chr21:40195200-40213800	Weak transcription	Fetal Kidney	kidney
3	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
4	chr21:40203800-40225200	Weak transcription	Psoas Muscle	Psoas
5	chr21:40210000-40212400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr21:40210000-40212800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr21:40210000-40214000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:40210000-40214000	Enhancers	NHEK	skin
9	chr21:40210000-40214200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:40210000-40214200	Enhancers	HMEC	breast
11	chr21:40210200-40212400	Enhancers	NHLF	lung
12	chr21:40210200-40212800	Enhancers	NHDF-Ad	bronchial
13	chr21:40210200-40213800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:40210400-40212400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:40210400-40212400	Enhancers	HSMM	muscle
16	chr21:40210400-40212600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:40210400-40212800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr21:40210800-40212400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr21:40211800-40212400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr21:40211800-40213200	Enhancers	Esophagus	oesophagus
21	chr21:40212000-40212400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr21:40212000-40213000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr21:40212000-40213800	Weak transcription	Fetal Stomach	stomach
24	chr21:40212200-40212800	Enhancers	NH-A	brain
25	chr21:40212200-40213000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr21:40212200-40213400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:40212200-40213400	Enhancers	Osteobl	bone
28	chr21:40212200-40213800	Enhancers	Hela-S3	cervix
29	chr21:40212200-40215400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr21:40212200-40215400	Weak transcription	HSMMtube	muscle
31	chr21:40212200-40215600	Weak transcription	HUVEC	blood vessel

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