Variant report

Variant	rs11994844
Chromosome Location	chr8:19868480-19868481
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11997167	0.94[AFR][1000 genomes]
rs17091775	1.00[AMR][1000 genomes]
rs17091815	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091870	1.00[AMR][1000 genomes]
rs17091879	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091926	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17116619	1.00[AMR][1000 genomes]
rs280	1.00[AMR][1000 genomes]
rs306	1.00[AMR][1000 genomes]
rs60618652	1.00[AMR][1000 genomes]
rs7003628	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498082	chr8:19722435-19873112	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv32767	chr8:19740189-19873082	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr8:19865600-19869400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:19865600-19869600	Weak transcription	Placenta	Placenta
3	chr8:19865600-19869800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:19865600-19877000	Weak transcription	Left Ventricle	heart
5	chr8:19866600-19869000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:19866600-19869200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:19866600-19869400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:19866600-19869600	Weak transcription	Fetal Heart	heart
9	chr8:19867400-19869600	Weak transcription	Psoas Muscle	Psoas
10	chr8:19867400-19881800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:19868400-19869200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:19868400-19869200	Weak transcription	Fetal Lung	lung
13	chr8:19868400-19870200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr8:19868400-19870600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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