Variant report

Variant	rs12320048
Chromosome Location	chr12:12193022-12193023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10129025	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10219553	0.83[AMR][1000 genomes]
rs11054615	0.83[AMR][1000 genomes]
rs11054618	0.83[AMR][1000 genomes]
rs12303760	0.83[AMR][1000 genomes]
rs12307551	0.83[AMR][1000 genomes]
rs12313176	0.83[AMR][1000 genomes]
rs12320086	0.83[AMR][1000 genomes]
rs55766219	0.83[AMR][1000 genomes]
rs61133682	0.83[AMR][1000 genomes]
rs7296862	0.86[AFR][1000 genomes];0.83[AMR][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv527741	chr12:12192987-12195969	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12186000-12200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:12192200-12193800	Enhancers	Fetal Intestine Small	intestine
3	chr12:12192400-12195400	Enhancers	Fetal Intestine Large	intestine
4	chr12:12192600-12193200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:12192800-12193200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:12192800-12193200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr12:12192800-12193200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:12192800-12193200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:12192800-12193200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:12193000-12193400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:12193000-12193600	Enhancers	Duodenum Mucosa	Duodenum
12	chr12:12193000-12197600	Weak transcription	Colon Smooth Muscle	Colon

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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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