Variant report

Variant	rs12730234
Chromosome Location	chr1:224863428-224863429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10915704	0.80[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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:224832800-224869000	Weak transcription	Dnd41	blood
3	chr1:224833200-224874400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:224857200-224869000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:224857200-224869200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:224858400-224871800	Weak transcription	NHLF	lung
7	chr1:224858400-224874200	Weak transcription	NH-A	brain
8	chr1:224859600-224871400	Weak transcription	NHDF-Ad	bronchial
9	chr1:224861000-224863600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:224861200-224865200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:224861200-224876800	Weak transcription	Ovary	ovary
12	chr1:224862400-224865200	Weak transcription	Right Atrium	heart
13	chr1:224862400-224902000	Weak transcription	Pancreas	Pancrea
14	chr1:224862800-224864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:224862800-224869400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:224863400-224864200	Weak transcription	Adipose Derived Mesenchymal Stem Cell 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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