Variant report

Variant	rs9429816
Chromosome Location	chr1:209732278-209732279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11587591	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap]
rs11589826	0.90[EUR][1000 genomes]
rs6690557	0.81[CEU][hapmap]
rs713075	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs7528698	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap]
rs7532726	0.81[CEU][hapmap]
rs9429817	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9429818	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap]
rs9429998	0.81[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9429999	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9429816	RP1-272L16.1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209726400-209735600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:209726600-209737800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:209726800-209738400	Weak transcription	NHEK	skin
4	chr1:209727000-209734000	Weak transcription	HSMM	muscle
5	chr1:209727000-209737600	Weak transcription	HMEC	breast
6	chr1:209728600-209738200	Weak transcription	Esophagus	oesophagus
7	chr1:209729400-209734200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:209729800-209733800	Weak transcription	Fetal Kidney	kidney
9	chr1:209730200-209734200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:209730400-209735000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:209730600-209733800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:209730800-209733800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:209731400-209734000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:209732200-209732600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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