Variant report

Variant	rs11733667
Chromosome Location	chr4:120316498-120316499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11722431	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11725409	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11734624	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13101369	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13122306	0.82[EUR][1000 genomes]
rs13126170	0.87[EUR][1000 genomes]
rs13128673	0.88[ASN][1000 genomes]
rs17517470	0.81[EUR][1000 genomes]
rs17595790	0.81[EUR][1000 genomes]
rs3817230	0.81[EUR][1000 genomes]
rs62320731	0.81[EUR][1000 genomes]
rs62320732	0.81[EUR][1000 genomes]
rs62320733	0.81[EUR][1000 genomes]
rs62322274	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62322275	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62322276	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv428769	chr4:120205572-120363323	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv879841	chr4:120244085-120388406	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2538163	chr4:120252854-120388678	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11733667	LOC645513	Cis_1M	lymphoblastoid	RTeQTL
rs11733667	RP11-33B1.1	cis	Thyroid	GTEx
rs11733667	USP53	cis	Whole Blood	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120311600-120318400	Weak transcription	Pancreas	Pancrea
2	chr4:120313200-120318000	Weak transcription	HSMMtube	muscle
3	chr4:120316000-120316600	Enhancers	Placenta	Placenta
4	chr4:120316000-120316800	Enhancers	Brain Germinal Matrix	brain
5	chr4:120316000-120317200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr4:120316200-120317200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:120316400-120317400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:120316400-120318000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:120316400-120318000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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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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