Variant report

Variant	rs1438815
Chromosome Location	chr2:55067716-55067717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12618178	0.93[ASN][1000 genomes]
rs13420395	0.85[YRI][hapmap];0.93[ASN][1000 genomes]
rs1438814	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2033823	0.96[ASN][1000 genomes]
rs2358154	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2631842	0.81[ASN][1000 genomes]
rs6747033	0.87[ASN][1000 genomes]
rs6754447	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6755767	0.93[ASN][1000 genomes]
rs7592363	0.89[ASN][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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer 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
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1844727	chr2:54999712-55084583	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv874153	chr2:55042463-55073428	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874154	chr2:55063113-55084583	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55053400-55079000	Weak transcription	HepG2	liver
2	chr2:55062200-55069600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:55063800-55072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:55064000-55068200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:55065000-55068600	Enhancers	Brain Anterior Caudate	brain
6	chr2:55065800-55071200	Weak transcription	Fetal Brain Male	brain
7	chr2:55066400-55072400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:55066800-55068000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:55066800-55068000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:55066800-55068000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:55066800-55068800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:55066800-55084400	Weak transcription	HSMMtube	muscle
13	chr2:55066800-55088800	Weak transcription	Brain Substantia Nigra	brain
14	chr2:55067000-55068200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:55067200-55072200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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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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