Variant report

Variant	rs7984781
Chromosome Location	chr13:39887855-39887856
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1175904	0.88[EUR][1000 genomes]
rs17529365	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025411	0.80[EUR][1000 genomes]
rs2147129	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2181758	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73173441	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7325323	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548734	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548737	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548739	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9594326	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603525	0.87[EUR][1000 genomes]
rs987847	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39885200-39888400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:39885800-39890800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:39886200-39890800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:39886200-39890800	Weak transcription	Right Atrium	heart
5	chr13:39886200-39891200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:39886200-39891400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:39886400-39891000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr13:39886400-39891000	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:39886400-39891000	Weak transcription	Left Ventricle	heart
10	chr13:39886400-39896600	Weak transcription	Aorta	Aorta
11	chr13:39886600-39890200	Weak transcription	Fetal Heart	heart
12	chr13:39886600-39891000	Weak transcription	HSMMtube	muscle
13	chr13:39887200-39890200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr13:39887400-39889600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr13:39887800-39888000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:39887800-39888200	Enhancers	HMEC	breast
17	chr13:39887800-39888200	Flanking Active TSS	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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