Variant report

Variant	rs12078139
Chromosome Location	chr1:215223886-215223887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11120469	0.94[AFR][1000 genomes]
rs11120472	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs11120474	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12061587	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs12062465	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12066174	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12069528	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs12069674	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12082755	0.94[AFR][1000 genomes]
rs12084973	0.84[AFR][1000 genomes]
rs12088528	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs12089490	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs12090549	0.87[YRI][hapmap]
rs12092077	0.94[AFR][1000 genomes]
rs12096956	0.87[YRI][hapmap]
rs12097853	1.00[YRI][hapmap];1.00[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	nsv468105	chr1:215167236-215248417	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv549182	chr1:215167236-215248417	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215220200-215225400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:215220600-215225000	Weak transcription	NHDF-Ad	bronchial
3	chr1:215221200-215227600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:215222400-215224000	Weak transcription	Osteobl	bone
5	chr1:215222800-215242200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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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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