Variant report

Variant	rs11572838
Chromosome Location	chr1:216677615-216677616
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11572717	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs11572728	1.00[AMR][1000 genomes]
rs11572730	1.00[AMR][1000 genomes]
rs11572740	1.00[AMR][1000 genomes]
rs11572785	1.00[AMR][1000 genomes]
rs11572833	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12239412	1.00[AMR][1000 genomes]
rs12239416	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs13374943	1.00[AMR][1000 genomes]
rs13375077	1.00[AMR][1000 genomes]
rs1498291	1.00[AMR][1000 genomes]
rs1857402	1.00[AMR][1000 genomes]
rs28515906	1.00[AMR][1000 genomes]
rs6678051	1.00[AMR][1000 genomes]
rs6682620	1.00[AMR][1000 genomes]
rs6685419	1.00[AMR][1000 genomes]
rs6693114	1.00[AMR][1000 genomes]
rs6700565	1.00[MEX][hapmap]
rs7530898	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1011849	chr1:216668381-216701163	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11572838	UCHL1	trans	lymphoblastoid	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216672200-216699600	Weak transcription	Gastric	stomach
2	chr1:216673200-216704600	Weak transcription	Pancreas	Pancrea
3	chr1:216674200-216681800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:216674600-216702000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:216676200-216680200	Weak transcription	Left Ventricle	heart
6	chr1:216676400-216680200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:216677000-216678600	Weak transcription	Placenta	Placenta
8	chr1:216677400-216679600	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:216677400-216679800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:216677400-216682000	Weak transcription	Fetal Heart	heart

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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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