Variant report

Variant	rs2356097
Chromosome Location	chr14:63400786-63400787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10131676	1.00[ASW][hapmap];0.88[CEU][hapmap];0.94[GIH][hapmap];0.87[LWK][hapmap];0.88[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap]
rs10137798	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10140285	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10141487	0.85[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10150127	0.83[CEU][hapmap]
rs1040731	0.84[CEU][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11158461	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11158463	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1270032	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12894226	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1950571	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1956025	0.89[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1980556	0.84[CEU][hapmap]
rs2355743	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4426276	0.92[CEU][hapmap]
rs4899101	0.96[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap]
rs6420893	0.87[CEU][hapmap]
rs6573463	0.84[GIH][hapmap]
rs6573464	0.92[CEU][hapmap]
rs7143072	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7157658	0.96[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs8018884	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]

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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2356097	IGF1R	trans	parietal	SCAN
rs2356097	JKAMP	cis	cerebellum	SCAN
rs2356097	WDR89	cis	cerebellum	SCAN
rs2356097	HIF1A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63399400-63402400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:63399800-63401800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:63399800-63402000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:63400000-63401600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:63400000-63402000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:63400200-63401800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:63400400-63401200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:63400400-63402000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:63400400-63402400	Enhancers	Brain Germinal Matrix	brain
10	chr14:63400600-63402000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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