Variant report

Variant	rs12118661
Chromosome Location	chr1:210501034-210501035
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11119466	0.82[EUR][1000 genomes]
rs1416032	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4845006	0.82[EUR][1000 genomes]
rs56165219	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs766176	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12118661	HHAT	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210495200-210501600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:210495400-210501400	Weak transcription	HMEC	breast
3	chr1:210495800-210501800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:210498200-210501400	Weak transcription	Stomach Mucosa	stomach
5	chr1:210499200-210501800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:210500400-210501200	Weak transcription	NHEK	skin
7	chr1:210501000-210501200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:210501000-210501200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr1:210501000-210501200	Enhancers	Colon Smooth Muscle	Colon
10	chr1:210501000-210501400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:210501000-210501400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:210501000-210501400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:210501000-210501400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:210501000-210501600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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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