Variant report

Variant	rs12144432
Chromosome Location	chr1:196111879-196111880
allele	A/G
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:10)

rs_ID	r²[population]
rs10801518	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10922022	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10922042	0.89[EUR][1000 genomes]
rs10922044	0.87[EUR][1000 genomes]
rs12119033	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12122832	0.87[EUR][1000 genomes]
rs12134563	0.88[AMR][1000 genomes]
rs12239650	0.87[EUR][1000 genomes]
rs2094028	0.80[EUR][1000 genomes]
rs4545316	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757765	chr1:195803764-196119454	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2758989	chr1:195803764-196119454	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv872948	chr1:195872295-196236425	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv470769	chr1:195901676-196187665	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv467339	chr1:195912579-196119310	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv548738	chr1:195912579-196119310	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv534209	chr1:196011881-196208885	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv872951	chr1:196027872-196166278	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr1:196109800-196113400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:196110400-196112400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:196110800-196112200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:196110800-196112200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:196111000-196112000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:196111000-196112200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:196111000-196113200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:196111200-196112000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:196111200-196112000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:196111400-196112200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:196111400-196113200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:196111600-196112200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:196111800-196112800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:196111800-196113000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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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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