Variant report

Variant	rs57031421
Chromosome Location	chr2:10216640-10216641
allele	A/G
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:0)
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	chr2:10215595..10217272-chr2:10263432..10266266,3	K562	blood:
2	chr2:10214942..10216826-chr2:10261415..10263032,2	K562	blood:
3	chr2:10147901..10149984-chr2:10215589..10217531,2	K562	blood:
4	chr2:10215525..10217317-chr2:10219868..10221625,2	K562	blood:
5	chr2:10212500..10214413-chr2:10215396..10217902,2	K562	blood:
6	chr2:10212853..10217073-chr2:10274987..10278512,3	K562	blood:
7	chr2:10215201..10219050-chr2:10221649..10224771,6	K562	blood:
8	chr2:10214341..10219035-chr2:10221307..10226558,10	K562	blood:
9	chr2:10214511..10217173-chr2:10217621..10220435,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233502	Chromatin interaction
ENSG00000205795	Chromatin interaction
ENSG00000171848	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11886933	1.00[ASN][1000 genomes]
rs2116017	1.00[ASN][1000 genomes]
rs35927125	1.00[ASN][1000 genomes]
rs4444493	1.00[ASN][1000 genomes]
rs4669510	1.00[ASN][1000 genomes]
rs4669512	1.00[ASN][1000 genomes]
rs4669559	1.00[ASN][1000 genomes]
rs55797250	1.00[ASN][1000 genomes]
rs56013048	1.00[ASN][1000 genomes]
rs56277911	1.00[ASN][1000 genomes]
rs6716517	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717307	1.00[ASN][1000 genomes]
rs6744258	1.00[ASN][1000 genomes]
rs72542775	1.00[ASN][1000 genomes]
rs72542787	1.00[ASN][1000 genomes]
rs72771623	1.00[ASN][1000 genomes]
rs72771625	1.00[ASN][1000 genomes]
rs72784502	1.00[ASN][1000 genomes]
rs72786603	1.00[ASN][1000 genomes]
rs7586930	1.00[ASN][1000 genomes]
rs7591484	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601478	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv873633	chr2:10175442-10266563	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv1010706	chr2:10189219-10266995	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10193600-10218400	Weak transcription	Brain Angular Gyrus	brain
2	chr2:10198000-10218600	Weak transcription	Right Atrium	heart
3	chr2:10201000-10218400	Weak transcription	Ovary	ovary
4	chr2:10206800-10218200	Weak transcription	Aorta	Aorta
5	chr2:10213400-10218600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:10214200-10218400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:10214400-10218200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:10214600-10217000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:10216400-10217000	Enhancers	Fetal Intestine Large	intestine
10	chr2:10216400-10217000	Genic enhancers	Fetal Intestine Small	intestine
11	chr2:10216400-10217000	Enhancers	Pancreas	Pancrea
12	chr2:10216600-10216800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:10216600-10216800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr2:10216600-10216800	Bivalent Enhancer	HepG2	liver
15	chr2:10216600-10217400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:10216600-10217400	Enhancers	GM12878-XiMat	blood

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