Variant report

Variant	rs12483576
Chromosome Location	chr21:46470513-46470514
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46357049..46359694-chr21:46468700..46471270,2	K562	blood:
2	chr17:41444678..41445379-chr21:46470281..46471278,2	Hela-S3	cervix:
3	chr21:46469071..46472175-chr21:46493297..46496891,3	K562	blood:
4	chr21:46465279..46467677-chr21:46469999..46472201,2	MCF-7	breast:
5	chr21:46469388..46471980-chr21:46473841..46475742,2	K562	blood:
6	chr21:46466444..46472175-chr21:46491782..46497533,7	K562	blood:
7	chr21:46467493..46469819-chr21:46469899..46472871,3	K562	blood:
8	chr21:46467385..46475999-chr21:46491097..46497836,11	MCF-7	breast:
9	chr21:46461581..46464417-chr21:46468838..46470675,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf67-10	chr21:46470367-46470679	NONHSAT082911

No data

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2838759	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35117020	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4818756	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818757	0.87[ASN][1000 genomes]
rs6518210	0.90[ASN][1000 genomes]
rs7278357	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7282497	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs754000	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv913997	chr21:46383941-46472929	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv1834255	chr21:46408790-46472929	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv1838717	chr21:46408790-46472929	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46455200-46474800	Weak transcription	Right Atrium	heart
2	chr21:46465600-46474800	Weak transcription	Aorta	Aorta
3	chr21:46467800-46471800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:46468800-46471200	Enhancers	HSMMtube	muscle
5	chr21:46468800-46474800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:46469000-46474600	Enhancers	Fetal Muscle Leg	muscle
7	chr21:46469400-46471200	Enhancers	Fetal Heart	heart
8	chr21:46469600-46471600	Enhancers	Fetal Stomach	stomach
9	chr21:46469600-46471800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:46469600-46471800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:46469600-46471800	Enhancers	Fetal Lung	lung
12	chr21:46469600-46471800	Enhancers	Placenta	Placenta
13	chr21:46469600-46471800	Enhancers	Psoas Muscle	Psoas
14	chr21:46469600-46472200	Enhancers	NHLF	lung
15	chr21:46469600-46473200	Flanking Active TSS	Hela-S3	cervix
16	chr21:46469600-46473400	Enhancers	Fetal Muscle Trunk	muscle
17	chr21:46469800-46470800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr21:46469800-46471000	Flanking Active TSS	HSMM	muscle
19	chr21:46469800-46471800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:46469800-46472600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr21:46470000-46470600	Weak transcription	A549	lung
22	chr21:46470000-46470800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr21:46470000-46470800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr21:46470200-46470600	Enhancers	Right Ventricle	heart
25	chr21:46470200-46470600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr21:46470200-46470600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr21:46470200-46470800	Enhancers	Stomach Smooth Muscle	stomach
28	chr21:46470200-46471600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr21:46470200-46471800	Enhancers	NH-A	brain
30	chr21:46470400-46470600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr21:46470400-46470600	Enhancers	Esophagus	oesophagus
32	chr21:46470400-46470600	Flanking Bivalent TSS/Enh	Osteobl	bone
33	chr21:46470400-46471000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr21:46470400-46471600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr21:46470400-46471600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr21:46470400-46471600	Weak transcription	Adipose Nuclei	Adipose
37	chr21:46470400-46471800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr21:46470400-46471800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr21:46470400-46471800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr21:46470400-46471800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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