Variant report

Variant	rs9977460
Chromosome Location	chr21:45429264-45429265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45429251-45429282	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:45282600..45286741-chr21:45429139..45433009,5	MCF-7	breast:
2	chr21:45428280..45430032-chr21:45526548..45528769,2	MCF-7	breast:
3	chr21:45428790..45430380-chr21:45532009..45534360,2	K562	blood:
4	chr21:45429046..45431899-chr21:45510493..45513576,3	K562	blood:
5	chr21:45403694..45405493-chr21:45429244..45431083,2	K562	blood:

No data

Variant related genes	Relation type
TRAPPC10	TF binding region
ENSG00000160218	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2838465	0.98[ASN][1000 genomes]
rs2838470	0.96[ASN][1000 genomes]
rs2838479	0.88[ASN][1000 genomes]
rs2838484	0.93[ASN][1000 genomes]
rs2838487	0.88[ASN][1000 genomes]
rs28834388	0.91[ASN][1000 genomes]
rs57812760	0.96[ASN][1000 genomes]
rs60503863	0.96[ASN][1000 genomes]
rs7275501	0.96[ASN][1000 genomes]
rs7282644	0.95[ASN][1000 genomes]
rs73909115	0.95[ASN][1000 genomes]
rs9974767	0.84[ASN][1000 genomes]
rs9977122	0.89[ASN][1000 genomes]
rs9978772	0.95[ASN][1000 genomes]
rs9979931	0.95[ASN][1000 genomes]
rs9982907	0.95[ASN][1000 genomes]
rs9983551	0.91[ASN][1000 genomes]
rs9983596	0.89[ASN][1000 genomes]
rs9984876	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45421400-45430400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:45421400-45430600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr21:45421600-45431000	Weak transcription	Brain Angular Gyrus	brain
4	chr21:45421600-45431000	Weak transcription	Brain Substantia Nigra	brain
5	chr21:45421800-45430200	Weak transcription	Brain Hippocampus Middle	brain
6	chr21:45423400-45431000	Weak transcription	Thymus	Thymus
7	chr21:45426400-45430400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr21:45426400-45431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:45426400-45431000	Weak transcription	Liver	Liver
10	chr21:45426400-45431000	Weak transcription	Colon Smooth Muscle	Colon
11	chr21:45426400-45431200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr21:45426400-45431600	Weak transcription	Lung	lung
13	chr21:45426600-45429800	Weak transcription	HepG2	liver
14	chr21:45426800-45430600	Weak transcription	Adipose Nuclei	Adipose
15	chr21:45426800-45430600	Weak transcription	Placenta	Placenta
16	chr21:45426800-45431000	Weak transcription	A549	lung
17	chr21:45427000-45429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr21:45427000-45430000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:45427000-45430000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:45427000-45430400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:45427000-45430800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:45427000-45430800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr21:45427000-45430800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr21:45427000-45430800	Weak transcription	HUVEC	blood vessel
25	chr21:45427000-45431000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr21:45427000-45431000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr21:45427000-45431000	Weak transcription	Hela-S3	cervix
28	chr21:45427000-45431000	Weak transcription	NHEK	skin
29	chr21:45427000-45431000	Weak transcription	NHLF	lung
30	chr21:45427000-45431200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr21:45427000-45431200	Weak transcription	HMEC	breast
32	chr21:45427400-45430600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr21:45427400-45431000	Weak transcription	Fetal Intestine Small	intestine
34	chr21:45427600-45431200	Weak transcription	NHDF-Ad	bronchial
35	chr21:45427800-45430000	Weak transcription	HSMM	muscle
36	chr21:45427800-45430400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr21:45427800-45430400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr21:45427800-45430600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr21:45427800-45430800	Weak transcription	Osteobl	bone
40	chr21:45427800-45431200	Weak transcription	HSMMtube	muscle
41	chr21:45428000-45430200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr21:45428200-45430600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr21:45428200-45431000	Weak transcription	Fetal Thymus	thymus
44	chr21:45428400-45429800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr21:45428400-45430000	Weak transcription	NH-A	brain
46	chr21:45429200-45431400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr21:45429200-45431400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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