Variant report

Variant	rs1908123
Chromosome Location	chr12:66888808-66888809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10784540	0.83[AMR][1000 genomes]
rs10784545	0.82[AMR][1000 genomes]
rs10784546	0.87[AMR][1000 genomes]
rs11176225	0.82[AMR][1000 genomes]
rs11609808	0.81[AMR][1000 genomes]
rs3891951	0.90[CEU][hapmap]
rs3970925	0.87[AMR][1000 genomes]
rs4913310	0.83[AMR][1000 genomes]
rs4913517	0.80[AMR][1000 genomes]
rs4913518	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6581698	0.81[AMR][1000 genomes]
rs7134378	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7135061	0.81[AMR][1000 genomes]
rs7306349	0.87[AMR][1000 genomes]
rs7487758	0.83[AMR][1000 genomes]
rs7960332	0.81[AMR][1000 genomes]
rs9989032	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1051713	chr12:66745716-66889411	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv469459	chr12:66854354-66950289	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv559206	chr12:66854354-66950289	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1908123	HELB	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66876400-66893600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:66886000-66889400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:66886000-66889400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:66886000-66889400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:66886400-66889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:66887800-66889600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:66888000-66889000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:66888000-66889000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:66888000-66889000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:66888000-66889600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:66888000-66892400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:66888400-66890600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:66888600-66890200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:66888600-66891000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:66888800-66891200	Enhancers	HUES48 Cell Line	embryonic stem cell

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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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