Variant report

Variant	rs2122427
Chromosome Location	chr14:81046295-81046296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs162176	1.00[AMR][1000 genomes]
rs2218781	1.00[AMR][1000 genomes]
rs327438	1.00[AMR][1000 genomes]
rs327444	1.00[AMR][1000 genomes]
rs327445	1.00[AMR][1000 genomes]
rs327448	1.00[AMR][1000 genomes]
rs327449	1.00[AMR][1000 genomes]
rs327455	1.00[AMR][1000 genomes]
rs327461	1.00[AMR][1000 genomes]
rs327466	1.00[AMR][1000 genomes]
rs327474	1.00[AMR][1000 genomes]
rs327475	1.00[AMR][1000 genomes]
rs327478	1.00[AMR][1000 genomes]
rs327479	1.00[AMR][1000 genomes]
rs327480	1.00[AMR][1000 genomes]
rs328253	1.00[AMR][1000 genomes]
rs442359	1.00[AMR][1000 genomes]
rs4899775	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60529658	1.00[AMR][1000 genomes]
rs6574590	1.00[AMR][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv902116	chr14:81018237-81082400	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr14:81037000-81051000	Weak transcription	NHEK	skin
2	chr14:81037200-81050800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:81037200-81050800	Weak transcription	HMEC	breast
4	chr14:81042800-81048400	Weak transcription	Psoas Muscle	Psoas
5	chr14:81043000-81046400	Enhancers	HepG2	liver
6	chr14:81043000-81050600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:81044800-81046600	Strong transcription	Dnd41	blood
8	chr14:81046200-81046600	Enhancers	HUES48 Cell Line	embryonic stem cell

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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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