Variant report

Variant	rs55738142
Chromosome Location	chr7:50632326-50632327
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	MXI1	chr7:50631638-50633619	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:50631981-50633423	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
DDC	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10229102	0.81[EUR][1000 genomes]
rs10229369	0.81[EUR][1000 genomes]
rs10238413	0.82[ASN][1000 genomes]
rs10247443	0.81[EUR][1000 genomes]
rs10250513	0.82[EUR][1000 genomes]
rs10274172	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10278338	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11238214	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11238226	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11489734	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11489736	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11977415	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12665904	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12669770	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1451373	0.82[EUR][1000 genomes]
rs1451374	0.82[EUR][1000 genomes]
rs1451375	0.81[EUR][1000 genomes]
rs1813214	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1839740	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1966839	0.84[EUR][1000 genomes]
rs1987859	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2329340	0.81[EUR][1000 genomes]
rs2329341	0.81[EUR][1000 genomes]
rs2329342	0.82[EUR][1000 genomes]
rs3829897	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4275187	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4392851	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4452748	0.83[EUR][1000 genomes]
rs4469404	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4512339	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4601266	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4947684	0.82[ASN][1000 genomes]
rs55718635	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56105337	0.96[AFR][1000 genomes]
rs56233242	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59086818	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6593010	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68143668	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6949897	0.82[EUR][1000 genomes]
rs6969081	0.81[EUR][1000 genomes]
rs73125288	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73125290	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7797131	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7802148	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs921450	0.82[EUR][1000 genomes]
rs921451	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55738142	FIGNL1	cis	lung	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50620800-50635600	Weak transcription	Lung	lung
2	chr7:50629200-50632800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:50630800-50633200	Active TSS	Duodenum Mucosa	Duodenum
4	chr7:50630800-50633200	Active TSS	Fetal Intestine Small	intestine
5	chr7:50631000-50633400	Active TSS	Fetal Intestine Large	intestine
6	chr7:50631600-50633200	Flanking Active TSS	Liver	Liver
7	chr7:50631800-50633000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr7:50631800-50633000	Active TSS	Rectal Smooth Muscle	rectum
9	chr7:50631800-50633200	Active TSS	Fetal Kidney	kidney
10	chr7:50631800-50633400	Active TSS	Colonic Mucosa	Colon
11	chr7:50631800-50633400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr7:50631800-50633800	Enhancers	Adipose Nuclei	Adipose
13	chr7:50631800-50633800	Flanking Active TSS	HepG2	liver
14	chr7:50632000-50634000	Enhancers	Stomach Mucosa	stomach
15	chr7:50632200-50632400	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr7:50632200-50632600	Enhancers	A549	lung
17	chr7:50632200-50632800	Active TSS	Pancreas	Pancrea
18	chr7:50632200-50633200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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