Variant report

Variant	rs6048480
Chromosome Location	chr20:22966295-22966296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11905036	1.00[AMR][1000 genomes]
rs11905574	1.00[AMR][1000 genomes]
rs11908240	1.00[AMR][1000 genomes]
rs6036254	1.00[AMR][1000 genomes]
rs6036273	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs6048439	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs6048442	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22963200-22966400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr20:22964000-22967400	Enhancers	Dnd41	blood
3	chr20:22964000-22968200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr20:22964200-22968000	Enhancers	Primary hematopoietic stem cells	blood
5	chr20:22964400-22966600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr20:22964600-22966400	Enhancers	Fetal Muscle Leg	muscle
7	chr20:22964600-22966400	Enhancers	Fetal Stomach	stomach
8	chr20:22965000-22966400	Enhancers	Spleen	Spleen
9	chr20:22965200-22966400	Enhancers	Fetal Muscle Trunk	muscle
10	chr20:22965400-22966600	Weak transcription	Left Ventricle	heart
11	chr20:22965800-22966400	Weak transcription	Lung	lung
12	chr20:22965800-22966600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr20:22965800-22967800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr20:22966200-22966400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr20:22966200-22967200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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