Variant report

Variant	rs10192148
Chromosome Location	chr2:213507930-213507931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10168708	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10178609	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10210438	0.85[AMR][1000 genomes]
rs10210445	0.85[AMR][1000 genomes]
rs13394417	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13397703	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7606255	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288453	0.81[AFR][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	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv875813	chr2:213480637-213509809	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213505800-213509200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:213505800-213509400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:213505800-213511200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:213505800-213511200	Weak transcription	HMEC	breast
5	chr2:213505800-213511200	Weak transcription	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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