Variant report

Variant	rs45470393
Chromosome Location	chr1:47269625-47269626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1105456	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801198	0.85[AFR][1000 genomes]
rs11803239	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11803288	0.91[ASN][1000 genomes]
rs11811700	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs45468297	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs45500401	1.00[ASN][1000 genomes]
rs45584834	1.00[ASN][1000 genomes]
rs45623939	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45626036	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs58445319	0.91[ASN][1000 genomes]
rs590582	0.91[ASN][1000 genomes]
rs59402146	0.91[ASN][1000 genomes]
rs59838435	0.85[AFR][1000 genomes]
rs632133	0.82[ASN][1000 genomes]
rs634431	0.82[ASN][1000 genomes]
rs837403	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1011086	chr1:47259078-47305191	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv870792	chr1:47259138-47272185	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv870538	chr1:47259138-47309265	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1010063	chr1:47264205-47285118	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv546165	chr1:47266590-47272785	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47265400-47271400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:47265600-47271800	Weak transcription	Spleen	Spleen
3	chr1:47265600-47279200	Weak transcription	Gastric	stomach
4	chr1:47265800-47269800	Weak transcription	Right Atrium	heart
5	chr1:47266400-47273800	Enhancers	Placenta	Placenta
6	chr1:47266800-47271600	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:47267800-47273000	Enhancers	Esophagus	oesophagus
8	chr1:47267800-47273600	Enhancers	Lung	lung
9	chr1:47268000-47271600	Weak transcription	Fetal Intestine Large	intestine
10	chr1:47268400-47270000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr1:47268400-47273600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:47268600-47271200	Enhancers	Right Ventricle	heart
13	chr1:47269200-47269800	Enhancers	Adipose Nuclei	Adipose
14	chr1:47269200-47269800	Weak transcription	Left Ventricle	heart
15	chr1:47269600-47270400	Active TSS	Psoas Muscle	Psoas
16	chr1:47269600-47270400	Enhancers	NHEK	skin
17	chr1:47269600-47271000	Enhancers	Stomach Mucosa	stomach
18	chr1:47269600-47271200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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