Variant report

Variant	rs785223
Chromosome Location	chr2:191002589-191002590
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11901445	0.82[CHD][hapmap];0.80[MEX][hapmap]
rs785222	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785225	0.89[ASN][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	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv9098	chr2:191002496-191002716	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
3	esv3371438	chr2:191002542-191002651	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs785223	C1orf157	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190991800-191004800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:190993200-191004800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:190996600-191008200	Weak transcription	Aorta	Aorta
4	chr2:190997000-191006200	Weak transcription	Psoas Muscle	Psoas
5	chr2:190999200-191004000	Weak transcription	Ovary	ovary
6	chr2:191002200-191002600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:191002200-191002600	Enhancers	Adipose Nuclei	Adipose
8	chr2:191002200-191002600	Enhancers	Brain Hippocampus Middle	brain
9	chr2:191002200-191002600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:191002200-191002800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:191002200-191003000	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:191002200-191003400	Enhancers	Brain Anterior Caudate	brain
13	chr2:191002400-191002800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:191002400-191003200	Enhancers	HSMM	muscle

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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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