Variant report

Variant	rs4417395
Chromosome Location	chr12:20340395-20340396
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10431248	0.82[ASN][1000 genomes]
rs10505860	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10770620	0.88[ASN][1000 genomes]
rs10770623	0.88[ASN][1000 genomes]
rs10770627	0.87[ASN][1000 genomes]
rs10841467	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12582945	0.86[ASN][1000 genomes]
rs1896610	0.86[ASN][1000 genomes]
rs2162734	0.91[ASN][1000 genomes]
rs2195280	0.86[ASN][1000 genomes]
rs57055266	0.85[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20328200-20354200	Weak transcription	Aorta	Aorta
2	chr12:20336600-20341000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:20336800-20341000	Weak transcription	Fetal Heart	heart
4	chr12:20336800-20342200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:20336800-20342600	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:20337400-20341000	Weak transcription	Fetal Intestine Large	intestine
7	chr12:20337600-20341400	Weak transcription	Fetal Intestine Small	intestine
8	chr12:20338000-20341800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:20338200-20346800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:20339800-20340400	Enhancers	Monocytes-CD14+_RO01746	blood

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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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