Variant report

Variant	rs351420
Chromosome Location	chr1:212446576-212446577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1444692	0.81[EUR][1000 genomes]
rs2921129	0.80[EUR][1000 genomes]
rs2995255	0.81[EUR][1000 genomes]
rs2995257	0.80[EUR][1000 genomes]
rs3121291	0.80[EUR][1000 genomes]
rs351375	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs351383	0.81[EUR][1000 genomes]
rs351395	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs351397	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs351404	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs351405	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs351416	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4951584	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs701907	0.81[EUR][1000 genomes]
rs701908	0.81[EUR][1000 genomes]
rs792433	0.80[EUR][1000 genomes]
rs792441	0.80[EUR][1000 genomes]
rs812074	0.80[EUR][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212444400-212446600	Enhancers	Fetal Intestine Small	intestine
2	chr1:212444800-212446600	Enhancers	Fetal Intestine Large	intestine
3	chr1:212445200-212446600	Enhancers	Left Ventricle	heart
4	chr1:212445200-212447200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:212445600-212446600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:212445600-212446600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr1:212445800-212448400	Weak transcription	Pancreas	Pancrea
8	chr1:212446000-212457000	Weak transcription	Stomach Mucosa	stomach
9	chr1:212446000-212457600	Weak transcription	Fetal Brain Female	brain
10	chr1:212446200-212454000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:212446400-212446600	Enhancers	Right Atrium	heart
12	chr1:212446400-212457200	Weak transcription	Fetal Heart	heart

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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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