Variant report

Variant	rs17214448
Chromosome Location	chr4:76482981-76482982
allele	A/G
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:16)

rs_ID	r²[population]
rs11734102	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11931211	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11931530	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11932719	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11944717	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12647915	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17214073	0.83[CHB][hapmap]
rs17214392	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62318653	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62318656	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62318657	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62318658	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62318659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62320962	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6811713	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857229	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]

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	nsv594687	chr4:76154064-76502748	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv534570	chr4:76214619-76498362	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76481400-76486800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:76481800-76487000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:76481800-76487000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:76481800-76487000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:76481800-76487000	Weak transcription	HMEC	breast
6	chr4:76481800-76487000	Weak transcription	NHEK	skin
7	chr4:76482200-76483000	Enhancers	Placenta	Placenta
8	chr4:76482200-76487000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:76482800-76483000	Enhancers	Placenta Amnion	Placenta Amnion

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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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