Variant report

Variant	rs17414466
Chromosome Location	chr2:212796443-212796444
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13396370	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13401829	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62184547	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[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	esv34128	chr2:212581485-212857122	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv834525	chr2:212693190-212860356	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212791600-212800200	Weak transcription	Aorta	Aorta
2	chr2:212792200-212796600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:212792200-212796800	Enhancers	Dnd41	blood
4	chr2:212794600-212796600	Enhancers	Primary hematopoietic stem cells	blood
5	chr2:212795200-212796800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:212795200-212796800	Enhancers	NHEK	skin
7	chr2:212795800-212796600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:212796000-212796600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:212796200-212796600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:212796200-212800000	Weak transcription	Fetal Thymus	thymus
11	chr2:212796400-212804800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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