Variant report

Variant	rs8132471
Chromosome Location	chr21:40545161-40545162
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:40540854-40546714	HepG2	liver:	n/a	n/a
2	POLR2A	chr21:40539073-40546427	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40495398..40498019-chr21:40544324..40546654,2	K562	blood:
2	chr21:40174974..40176584-chr21:40544801..40546577,2	K562	blood:
3	chr21:40544095..40546729-chr21:40827156..40828956,2	K562	blood:
4	chr21:40542935..40544954-chr21:40544958..40548517,4	MCF-7	breast:
5	chr21:40544824..40547305-chr21:40554591..40556677,3	MCF-7	breast:

No data

Variant related genes	Relation type
PCBP2P1	TF binding region
ENSG00000183527	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000235701	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11909263	0.96[AFR][1000 genomes]
rs11909837	0.96[AFR][1000 genomes]
rs11911944	0.96[AFR][1000 genomes]
rs7279424	0.87[AFR][1000 genomes]
rs7279749	0.83[AFR][1000 genomes]
rs8130185	0.83[AFR][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	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40533600-40545400	Weak transcription	HUVEC	blood vessel
2	chr21:40537600-40553800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:40538800-40545200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr21:40538800-40550400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr21:40539000-40550800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr21:40539400-40545200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr21:40539600-40554000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:40539800-40554000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:40540200-40554200	Weak transcription	Psoas Muscle	Psoas
10	chr21:40541000-40547000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:40541000-40547600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr21:40541200-40545400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:40541200-40545600	Weak transcription	Fetal Lung	lung
14	chr21:40541200-40546400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:40541200-40546400	Strong transcription	Adipose Nuclei	Adipose
16	chr21:40541200-40546400	Strong transcription	Fetal Muscle Leg	muscle
17	chr21:40541200-40546600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr21:40541200-40546600	Strong transcription	Thymus	Thymus
19	chr21:40541200-40547800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr21:40541200-40548400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr21:40541200-40550600	Strong transcription	Dnd41	blood
22	chr21:40541200-40552600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:40541200-40552800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr21:40541200-40553000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr21:40541200-40553000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr21:40541200-40553600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:40541200-40553800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:40541200-40554000	Weak transcription	Brain Substantia Nigra	brain
29	chr21:40541400-40545400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr21:40541400-40545400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr21:40541400-40545800	Weak transcription	Brain Angular Gyrus	brain
32	chr21:40541400-40546400	Strong transcription	Fetal Stomach	stomach
33	chr21:40541400-40546800	Strong transcription	A549	lung
34	chr21:40541400-40553000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr21:40541600-40545400	Weak transcription	Hela-S3	cervix
36	chr21:40541600-40545800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr21:40541600-40553800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr21:40541600-40554000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr21:40541600-40554000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr21:40541600-40554000	Weak transcription	Colon Smooth Muscle	Colon
41	chr21:40541800-40545400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr21:40541800-40545800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr21:40541800-40545800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr21:40541800-40554400	Weak transcription	Brain Germinal Matrix	brain
45	chr21:40542000-40554000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr21:40542000-40554000	Weak transcription	Stomach Mucosa	stomach
47	chr21:40542200-40545400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr21:40542200-40545400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr21:40542200-40551600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr21:40542400-40548600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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