Variant report

Variant	rs6738053
Chromosome Location	chr2:213019169-213019170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11886035	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11902414	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16847775	0.92[AFR][1000 genomes]
rs16847783	0.94[AFR][1000 genomes]
rs58725196	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6435693	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6435694	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7559605	0.87[AFR][1000 genomes]
rs7569196	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7573642	0.94[AFR][1000 genomes]
rs7579746	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7608211	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875806	chr2:212997024-213211067	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213017000-213019200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:213017600-213021400	Weak transcription	Aorta	Aorta
3	chr2:213018400-213019400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:213018400-213019600	Enhancers	Brain Substantia Nigra	brain
5	chr2:213018600-213019800	Enhancers	Fetal Heart	heart
6	chr2:213018800-213019200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:213018800-213019400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:213018800-213019400	Enhancers	Brain Anterior Caudate	brain
9	chr2:213018800-213019400	Enhancers	Brain Hippocampus Middle	brain
10	chr2:213018800-213019600	Enhancers	HMEC	breast
11	chr2:213018800-213019600	Enhancers	NHEK	skin
12	chr2:213018800-213021000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:213018800-213022200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:213019000-213019800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	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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