Variant report

Variant	rs1427979
Chromosome Location	chr12:20341458-20341459
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10431212	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10444397	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10770620	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10770624	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10770627	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11045115	0.84[ASN][1000 genomes]
rs11836891	0.88[ASN][1000 genomes]
rs12425361	0.87[ASN][1000 genomes]
rs12579988	0.88[ASN][1000 genomes]
rs12580294	0.88[ASN][1000 genomes]
rs2195280	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4545637	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7307541	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9669759	0.88[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	nsv898855	chr12:20278430-20354786	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035141	chr12:20286595-20429040	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv898856	chr12:20317201-20354786	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20328200-20354200	Weak transcription	Aorta	Aorta
2	chr12:20336800-20342200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:20336800-20342600	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:20338000-20341800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:20338200-20346800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:20341000-20341600	Enhancers	Adipose Nuclei	Adipose
7	chr12:20341000-20343000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:20341000-20343200	Enhancers	Fetal Heart	heart
9	chr12:20341000-20343200	Enhancers	Fetal Intestine Large	intestine
10	chr12:20341200-20342400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:20341200-20342400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:20341400-20341600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:20341400-20341600	Enhancers	Right Atrium	heart
14	chr12:20341400-20342400	Enhancers	Left Ventricle	heart
15	chr12:20341400-20343000	Enhancers	Fetal Intestine Small	intestine

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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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