Variant report

Variant	rs9504131
Chromosome Location	chr6:4487335-4487336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1265248	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13203027	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2150232	0.95[EUR][1000 genomes]
rs2181017	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35280607	0.87[AMR][1000 genomes]
rs7743833	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7764381	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9328254	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9502191	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504126	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504130	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504132	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021743	chr6:4382308-4494308	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv538111	chr6:4382308-4494308	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3421990	chr6:4446933-4659639	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830576	chr6:4447554-4610604	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv970369	chr6:4481968-4554947	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9504131	C6orf201,FNBP1L,PECI	cis	cerebellar cortex	BrainEAC

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4486000-4487600	Enhancers	Placenta	Placenta
2	chr6:4486400-4487400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:4486400-4487800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:4486600-4487400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:4486600-4487600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:4486600-4487600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:4486600-4487600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr6:4486600-4487600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:4486800-4487600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr6:4486800-4487600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:4486800-4487600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:4487000-4487400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:4487000-4487400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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