Variant report

Variant	rs9974282
Chromosome Location	chr21:45351331-45351332
allele	A/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: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	chr21:45223486..45226473-chr21:45348909..45351794,2	K562	blood:
2	chr21:45350751..45352749-chr21:45352921..45355084,2	K562	blood:
3	chr21:45346418..45348065-chr21:45349559..45351638,3	K562	blood:
4	chr21:45283505..45286463-chr21:45348240..45352791,7	MCF-7	breast:
5	chr21:45335105..45336760-chr21:45350472..45353205,2	K562	blood:
6	chr21:45282912..45284880-chr21:45350407..45352499,2	K562	blood:
7	chr21:45349952..45352425-chr21:45363835..45365722,2	K562	blood:
8	chr21:45350187..45353097-chr21:45357670..45359224,2	MCF-7	breast:
9	chr21:45229980..45231493-chr21:45350817..45352399,2	K562	blood:
10	chr21:45282912..45284880-chr21:45350407..45353939,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215458	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1005192	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1888525	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2070547	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186929	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838435	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838436	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838439	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827246	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819340	0.94[EUR][1000 genomes]
rs4819345	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819348	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819350	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518334	0.85[EUR][1000 genomes]
rs6518335	0.90[EUR][1000 genomes]
rs6518337	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518338	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276578	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8127341	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs914196	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9306164	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306165	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306166	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9978688	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9985035	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999519	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45336400-45351600	Weak transcription	Fetal Brain Female	brain
2	chr21:45337600-45358600	Weak transcription	Osteobl	bone
3	chr21:45338800-45358600	Weak transcription	Hela-S3	cervix
4	chr21:45340800-45358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr21:45341400-45358600	Weak transcription	A549	lung
6	chr21:45342200-45357000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr21:45342200-45358800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr21:45342400-45356400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr21:45342600-45353000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr21:45342600-45354600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:45343000-45357600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr21:45343000-45372400	Weak transcription	Small Intestine	intestine
13	chr21:45343400-45355200	Weak transcription	Brain Germinal Matrix	brain
14	chr21:45343400-45355600	Weak transcription	Brain Angular Gyrus	brain
15	chr21:45343600-45358000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr21:45343800-45356000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr21:45343800-45356200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr21:45343800-45357600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr21:45343800-45358600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:45343800-45358600	Weak transcription	HSMM	muscle
21	chr21:45343800-45358800	Weak transcription	Ovary	ovary
22	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:45344000-45357200	Strong transcription	Fetal Stomach	stomach
24	chr21:45344200-45352200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:45344400-45358400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr21:45344600-45352400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr21:45345200-45358600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr21:45345400-45353000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr21:45345400-45358600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:45345600-45353800	Weak transcription	Colonic Mucosa	Colon
31	chr21:45345800-45352800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr21:45345800-45354800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr21:45346400-45352000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr21:45346400-45355400	Weak transcription	Fetal Lung	lung
35	chr21:45347600-45351400	Enhancers	Right Ventricle	heart
36	chr21:45347600-45354600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:45348400-45351600	Weak transcription	Adipose Nuclei	Adipose
38	chr21:45348400-45354000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr21:45348400-45356000	Weak transcription	Right Atrium	heart
40	chr21:45348400-45363800	Weak transcription	Aorta	Aorta
41	chr21:45348800-45355200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr21:45348800-45356600	Weak transcription	Colon Smooth Muscle	Colon
43	chr21:45348800-45358600	Weak transcription	NHEK	skin
44	chr21:45349000-45354400	Weak transcription	K562	blood
45	chr21:45349200-45353200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr21:45349200-45355200	Weak transcription	Brain Hippocampus Middle	brain
47	chr21:45349200-45355400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr21:45349400-45352000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr21:45349400-45355600	Strong transcription	Fetal Intestine Large	intestine
50	chr21:45349400-45357000	Strong transcription	Fetal Intestine Small	intestine

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