Variant report

Variant	rs4947410
Chromosome Location	chr7:50494581-50494582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10235796	0.84[EUR][1000 genomes]
rs12538151	0.87[EUR][1000 genomes]
rs1466164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060761	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060762	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3735275	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4515495	0.97[ASN][1000 genomes]
rs4618649	0.90[EUR][1000 genomes]
rs4947437	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6593336	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965721	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7384694	0.83[EUR][1000 genomes]
rs963739	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4947410	FIGNL1	cis	lung	GTEx
rs4947410	FIGNL1	cis	Artery Tibial	GTEx
rs4947410	FIGNL1	cis	Adipose Subcutaneous	GTEx
rs4947410	FIGNL1	cis	Thyroid	GTEx
rs4947410	FIGNL1	cis	Skin Sun Exposed Lower leg	GTEx
rs4947410	FIGNL1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50486200-50513200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:50486600-50495000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:50493400-50505800	Weak transcription	Thymus	Thymus
4	chr7:50494000-50494600	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr7:50494000-50495200	Enhancers	Fetal Intestine Large	intestine
6	chr7:50494200-50495200	Enhancers	Duodenum Mucosa	Duodenum
7	chr7:50494200-50495200	Enhancers	Stomach Mucosa	stomach
8	chr7:50494400-50495600	Enhancers	HepG2	liver

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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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