Variant report

Variant	rs278042
Chromosome Location	chr13:30432144-30432145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1772727	0.91[ASN][1000 genomes]
rs278044	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2892463	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3783244	0.86[CHB][hapmap]
rs720083	0.86[CHB][hapmap]
rs7321345	0.89[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9314979	0.90[CHB][hapmap]
rs9506230	0.88[ASN][1000 genomes]
rs9508555	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9579486	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30427200-30434000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:30427400-30432200	Weak transcription	NHDF-Ad	bronchial
3	chr13:30427400-30434200	Weak transcription	HSMM	muscle
4	chr13:30427600-30435600	Weak transcription	A549	lung
5	chr13:30427800-30432200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:30427800-30432600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:30429800-30432400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr13:30430000-30435400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:30430200-30435400	Weak transcription	Placenta	Placenta
10	chr13:30430800-30433000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr13:30430800-30436600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:30431000-30432200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:30431000-30432600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr13:30432000-30432200	Enhancers	Lung	lung
15	chr13:30432000-30432400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:30432000-30432400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr13:30432000-30433000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:30432000-30433200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:30432000-30435600	Enhancers	Osteobl	bone

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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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