Variant report

Variant	rs11117184
Chromosome Location	chr12:86475998-86475999
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11117155	0.84[CHB][hapmap]
rs11117182	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12230203	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs7957022	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832476	chr12:86389751-86497122	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3345033	chr12:86458294-86514745	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86473800-86476400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:86473800-86476400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:86473800-86477000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:86474400-86476400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:86474800-86476000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:86474800-86476000	Enhancers	Brain Hippocampus Middle	brain
7	chr12:86474800-86476000	Enhancers	Brain Substantia Nigra	brain
8	chr12:86475000-86476200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr12:86475000-86476200	Enhancers	Fetal Heart	heart
10	chr12:86475000-86476400	Enhancers	Brain Cingulate Gyrus	brain
11	chr12:86475400-86476200	Enhancers	Fetal Brain Female	brain
12	chr12:86475400-86476400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:86475400-86476600	Enhancers	Brain Germinal Matrix	brain
14	chr12:86475600-86476200	Enhancers	Fetal Brain Male	brain

Quick Search:

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

what's new

Quick links