Variant report

Variant	rs4846387
Chromosome Location	chr1:222962677-222962678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17474745	0.80[ASN][1000 genomes]
rs17533651	0.91[CHB][hapmap];0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs17533810	0.80[ASN][1000 genomes]
rs17533873	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2889937	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2889940	0.80[ASN][1000 genomes]
rs34430931	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34494528	0.80[ASN][1000 genomes]
rs35292789	0.80[ASN][1000 genomes]
rs35554894	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35684750	0.81[CHB][hapmap]
rs35762933	0.81[CHB][hapmap]
rs35976854	0.80[ASN][1000 genomes]
rs3922772	0.80[ASN][1000 genomes]
rs4562632	0.80[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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh 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	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222953400-222968000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:222958800-222987800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:222959800-222966400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:222960000-222964400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:222960000-222967800	Weak transcription	Stomach Mucosa	stomach
6	chr1:222960200-222964200	Weak transcription	HUVEC	blood vessel
7	chr1:222960400-222964000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:222960600-222964000	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:222960600-222964400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:222961600-222964400	Weak transcription	Fetal Lung	lung
11	chr1:222962200-222964600	Weak transcription	HSMMtube	muscle
12	chr1:222962600-222963000	Weak transcription	GM12878-XiMat	blood
13	chr1:222962600-222964200	Weak transcription	Hela-S3	cervix

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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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