Variant report

Variant	rs13047537
Chromosome Location	chr21:40212518-40212519
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40203275..40206794-chr21:40210041..40212530,5	MCF-7	breast:
2	chr21:40191810..40193575-chr21:40211576..40213668,2	K562	blood:
3	chr21:40212464..40216526-chr21:40217329..40223088,8	MCF-7	breast:
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	chr21:40180448..40182258-chr21:40212420..40214103,2	K562	blood:
10	chr21:40209482..40212563-chr21:40213470..40216289,3	MCF-7	breast:
11	chr21:40211369..40213824-chr21:40223080..40225148,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction
ENSG00000229986	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1000844	0.92[ASN][1000 genomes]
rs1009121	0.91[ASN][1000 genomes]
rs1051420	0.89[ASN][1000 genomes]
rs1051475	0.90[ASN][1000 genomes]
rs1051476	0.90[ASN][1000 genomes]
rs10854389	0.81[ASN][1000 genomes]
rs11088450	0.90[ASN][1000 genomes]
rs11088451	0.90[ASN][1000 genomes]
rs11088452	0.92[ASN][1000 genomes]
rs11088453	0.92[ASN][1000 genomes]
rs11088454	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1123350	0.92[ASN][1000 genomes]
rs11254	0.90[ASN][1000 genomes]
rs11701191	0.90[ASN][1000 genomes]
rs11701500	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11702403	0.91[ASN][1000 genomes]
rs12481740	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12482470	0.90[ASN][1000 genomes]
rs12483746	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12627283	0.89[ASN][1000 genomes]
rs13046853	0.90[ASN][1000 genomes]
rs13047133	0.90[ASN][1000 genomes]
rs13047745	0.90[ASN][1000 genomes]
rs13048035	0.88[ASN][1000 genomes]
rs13050340	0.92[ASN][1000 genomes]
rs1571707	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2070531	0.90[ASN][1000 genomes]
rs2142035	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836683	0.89[ASN][1000 genomes]
rs2836684	0.89[ASN][1000 genomes]
rs2836685	0.90[ASN][1000 genomes]
rs2836686	0.90[ASN][1000 genomes]
rs2836687	0.90[ASN][1000 genomes]
rs2836688	0.90[ASN][1000 genomes]
rs2836689	0.90[ASN][1000 genomes]
rs2836690	0.90[ASN][1000 genomes]
rs2836691	0.90[ASN][1000 genomes]
rs2836692	0.90[ASN][1000 genomes]
rs2836693	0.90[ASN][1000 genomes]
rs2836694	0.92[ASN][1000 genomes]
rs2836710	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836711	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7282444	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7282723	0.90[ASN][1000 genomes]
rs762386	0.92[ASN][1000 genomes]
rs762387	0.92[ASN][1000 genomes]
rs9941892	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs998855	0.92[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:29 , 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	chr21:40210000-40212800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:40210000-40214000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:40210000-40214000	Enhancers	NHEK	skin
8	chr21:40210000-40214200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:40210000-40214200	Enhancers	HMEC	breast
10	chr21:40210200-40212800	Enhancers	NHDF-Ad	bronchial
11	chr21:40210200-40213800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:40210400-40212600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:40210400-40212800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr21:40211800-40213200	Enhancers	Esophagus	oesophagus
15	chr21:40212000-40213000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:40212000-40213800	Weak transcription	Fetal Stomach	stomach
17	chr21:40212200-40212800	Enhancers	NH-A	brain
18	chr21:40212200-40213000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr21:40212200-40213400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:40212200-40213400	Enhancers	Osteobl	bone
21	chr21:40212200-40213800	Enhancers	Hela-S3	cervix
22	chr21:40212200-40215400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr21:40212200-40215400	Weak transcription	HSMMtube	muscle
24	chr21:40212200-40215600	Weak transcription	HUVEC	blood vessel
25	chr21:40212400-40213400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:40212400-40215200	Weak transcription	HSMM	muscle
27	chr21:40212400-40215400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:40212400-40215400	Weak transcription	NHLF	lung
29	chr21:40212400-40215600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links