Variant report

Variant	rs1030127
Chromosome Location	chr14:80161440-80161441
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:16)

rs_ID	r²[population]
rs10146886	0.92[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs10483931	0.92[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs11848654	1.00[ASW][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap]
rs17109739	0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs17109747	0.86[EUR][1000 genomes]
rs17109754	0.92[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs17109772	0.86[EUR][1000 genomes]
rs17109775	0.82[TSI][hapmap]
rs2160920	0.89[EUR][1000 genomes]
rs2193673	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs61993165	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61995221	0.84[EUR][1000 genomes]
rs61995222	0.84[EUR][1000 genomes]
rs61995223	0.86[EUR][1000 genomes]
rs61995224	0.84[EUR][1000 genomes]
rs61995225	0.86[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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80158000-80164400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:80158600-80162000	Enhancers	Fetal Kidney	kidney
3	chr14:80160400-80161800	Enhancers	Colon Smooth Muscle	Colon
4	chr14:80160600-80170200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:80161000-80161600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:80161200-80161600	Enhancers	Psoas Muscle	Psoas
7	chr14:80161400-80161600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:80161400-80161600	Enhancers	Brain Cingulate Gyrus	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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