Variant report

Variant	rs2242042
Chromosome Location	chr7:50529852-50529853
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11575463	0.84[EUR][1000 genomes]
rs11772714	0.87[EUR][1000 genomes]
rs1376524	0.84[EUR][1000 genomes]
rs17733244	0.83[EUR][1000 genomes]
rs1807066	0.86[EUR][1000 genomes]
rs2060761	0.90[AFR][1000 genomes]
rs2060762	0.90[AFR][1000 genomes]
rs2060763	0.87[EUR][1000 genomes]
rs2876828	0.82[EUR][1000 genomes]
rs2876829	0.85[EUR][1000 genomes]
rs3807558	0.84[EUR][1000 genomes]
rs6963996	0.85[EUR][1000 genomes]
rs745042	0.86[EUR][1000 genomes]
rs745043	0.86[EUR][1000 genomes]
rs7790758	0.85[EUR][1000 genomes]
rs880029	0.84[EUR][1000 genomes]
rs896309	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1026081	chr7:50525900-50538184	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2242042	FIGNL1	cis	Artery Tibial	GTEx
rs2242042	FIGNL1	cis	Skin Sun Exposed Lower leg	GTEx
rs2242042	FIGNL1	cis	Nerve Tibial	GTEx
rs2242042	FIGNL1	cis	Heart Left Ventricle	GTEx
rs2242042	FIGNL1	cis	Adipose Subcutaneous	GTEx
rs2242042	FIGNL1	cis	lung	GTEx
rs2242042	FIGNL1	cis	Esophagus Mucosa	GTEx
rs2242042	FIGNL1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50518800-50535400	Weak transcription	Pancreas	Pancrea
2	chr7:50518800-50535600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:50518800-50535600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:50518800-50535600	Weak transcription	HepG2	liver
5	chr7:50524800-50530000	Weak transcription	Liver	Liver
6	chr7:50528800-50533800	Strong transcription	Duodenum Mucosa	Duodenum
7	chr7:50528800-50535400	Weak transcription	Colonic Mucosa	Colon
8	chr7:50529200-50535600	Strong transcription	Fetal Intestine Large	intestine
9	chr7:50529600-50535400	Strong transcription	Fetal Intestine Small	intestine
10	chr7:50529800-50530600	Weak transcription	Rectal Mucosa Donor 29	rectum

Quick Search:

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

what's new

Quick links