Variant report

Variant	rs4406908
Chromosome Location	chr12:12114090-12114091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11614705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11614722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3020811	0.96[EUR][1000 genomes]
rs35627472	1.00[AFR][1000 genomes]
rs4433648	1.00[AFR][1000 genomes]
rs73056129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73056193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73056196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73058013	1.00[AFR][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	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12111400-12115200	Enhancers	Fetal Brain Male	brain
2	chr12:12111600-12114600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:12112000-12117000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:12112000-12121400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:12112000-12123000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:12112200-12114400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:12112200-12114400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:12112200-12114800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:12112200-12116400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:12112400-12114200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:12112600-12114200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:12112600-12114200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:12112600-12120400	Weak transcription	Fetal Thymus	thymus
14	chr12:12112800-12114200	Weak transcription	Fetal Brain Female	brain
15	chr12:12112800-12114600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:12112800-12115600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:12112800-12120200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:12113600-12114200	Bivalent Enhancer	HepG2	liver
19	chr12:12113800-12115000	Enhancers	H1 Derived Mesenchymal Stem 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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