Variant report

Variant	rs3749514
Chromosome Location	chr4:69795359-69795360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr4:69795078-69795444	HepG2	liver:	n/a	n/a
2	JUN	chr4:69795081-69795427	HepG2	liver:	n/a	chr4:69795256-69795269

Variant related genes	Relation type
ENSG00000198277	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10447075	0.88[AMR][1000 genomes]
rs10447076	0.88[AMR][1000 genomes]
rs10447077	0.88[AMR][1000 genomes]
rs1075100	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12645107	0.89[CEU][hapmap]
rs1458238	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1458240	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1598902	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17147016	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147077	0.84[AMR][1000 genomes]
rs17520029	0.86[AMR][1000 genomes]
rs1824266	0.85[AMR][1000 genomes]
rs1841050	0.86[AMR][1000 genomes]
rs1841051	0.88[AMR][1000 genomes]
rs1973106	0.85[AMR][1000 genomes]
rs2018024	0.86[AMR][1000 genomes]
rs2168842	0.95[ASN][1000 genomes]
rs2290764	0.88[AMR][1000 genomes]
rs2290765	0.86[AMR][1000 genomes]
rs2331564	0.86[AMR][1000 genomes]
rs2331569	0.91[AMR][1000 genomes]
rs2331570	0.91[AMR][1000 genomes]
rs35470687	0.88[AMR][1000 genomes]
rs36006127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3749510	0.95[ASN][1000 genomes]
rs3966085	0.86[AMR][1000 genomes]
rs4326076	0.89[CEU][hapmap]
rs4467643	0.91[AMR][1000 genomes]
rs4590113	0.91[AMR][1000 genomes]
rs4604120	0.89[CEU][hapmap]
rs4694487	0.84[AMR][1000 genomes]
rs57520789	0.82[AMR][1000 genomes]
rs57547462	0.85[AMR][1000 genomes]
rs57631654	0.80[AMR][1000 genomes]
rs58016259	0.88[AMR][1000 genomes]
rs58630860	0.86[AMR][1000 genomes]
rs58661690	0.84[AMR][1000 genomes]
rs58691026	0.86[AMR][1000 genomes]
rs59300882	0.88[AMR][1000 genomes]
rs59449984	0.88[AMR][1000 genomes]
rs59590628	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60839320	0.84[AMR][1000 genomes]
rs60931562	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61021826	0.88[AMR][1000 genomes]
rs61159119	0.86[AMR][1000 genomes]
rs61235442	0.88[AMR][1000 genomes]
rs61397349	0.86[AMR][1000 genomes]
rs61416981	0.88[AMR][1000 genomes]
rs6817568	0.80[AMR][1000 genomes]
rs6833024	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6833862	0.89[CEU][hapmap]
rs6842737	0.83[AMR][1000 genomes]
rs7440384	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005513	chr4:69446718-69890307	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	esv3398036	chr4:69700493-69841391	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv436447	chr4:69743339-69851390	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv4372	chr4:69764499-69810115	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv967758	chr4:69780530-69870183	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv829962	chr4:69786869-69910283	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv980212	chr4:69795048-69796475	Strong transcription Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3749514	TMPRSS11A	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69792400-69812600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:69793000-69797200	Strong transcription	Fetal Intestine Large	intestine
3	chr4:69793800-69797200	Strong transcription	HepG2	liver
4	chr4:69794200-69806200	Weak transcription	Fetal Intestine Small	intestine
5	chr4:69794600-69809400	Weak transcription	Pancreas	Pancrea
6	chr4:69794800-69796400	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr4:69794800-69796600	Strong transcription	Liver	Liver
8	chr4:69795000-69798000	Strong transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links