Variant report

Variant	rs9288445
Chromosome Location	chr2:212847371-212847372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10176432	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10205159	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs10208389	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1030942	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1155683	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12473886	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12987596	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs13007778	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1357124	0.86[JPT][hapmap]
rs1402712	0.86[CHB][hapmap]
rs1402714	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs17336942	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2860059	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4672630	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4673645	0.87[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7423124	0.82[CHB][hapmap]
rs7558696	0.82[CHB][hapmap];0.91[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7563378	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34128	chr2:212581485-212857122	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv834525	chr2:212693190-212860356	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv875791	chr2:212824999-212874828	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875792	chr2:212824999-212896571	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv584343	chr2:212830200-212906355	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1012269	chr2:212837487-212915640	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv525127	chr2:212839046-212916758	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv875793	chr2:212842777-212866473	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	nsv875794	chr2:212842777-212885510	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
11	nsv875795	chr2:212845292-212868624	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
12	nsv875796	chr2:212845292-212874828	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9288445	FN1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212845800-212847400	Enhancers	Fetal Heart	heart
2	chr2:212845800-212848200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:212845800-212848200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:212846400-212848000	Enhancers	HUVEC	blood vessel

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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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