Variant report

Variant	rs6981717
Chromosome Location	chr8:89188454-89188455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28542805	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28589951	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28639477	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28730305	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029898	chr8:88837956-89606641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1030028	chr8:89060085-89733470	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1019111	chr8:89186908-89475460	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6981717	FGFR2	trans	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89128800-89197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:89139800-89190200	Weak transcription	NH-A	brain
3	chr8:89143600-89198000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:89160800-89217200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:89176200-89190400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:89177000-89198000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:89177200-89196200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:89177200-89199400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:89177200-89214400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:89177200-89216400	Weak transcription	Brain Germinal Matrix	brain
11	chr8:89178000-89205200	Weak transcription	Fetal Stomach	stomach

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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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