Variant report

Variant	rs72990118
Chromosome Location	chr2:141650224-141650225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57626670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6713857	1.00[AMR][1000 genomes]
rs6749242	0.80[AFR][1000 genomes]
rs6750037	1.00[AMR][1000 genomes]
rs6755167	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72988157	0.83[AFR][1000 genomes]
rs72988163	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72988173	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72988176	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72988202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990112	1.00[AFR][1000 genomes];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	nsv583198	chr2:141510791-142150620	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1003008	chr2:141518795-141763505	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141648800-141654800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:141649000-141653200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:141649200-141661800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:141649800-141651600	Enhancers	Dnd41	blood
5	chr2:141649800-141652000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:141649800-141652000	Enhancers	HMEC	breast
7	chr2:141650000-141651600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:141650200-141651200	Enhancers	Primary T cells from cord blood	blood
9	chr2:141650200-141651600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:141650200-141654200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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