Variant report

Variant	rs8017895
Chromosome Location	chr14:71672067-71672068
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10130213	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10144392	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11158898	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11844320	0.81[EUR][1000 genomes]
rs11850267	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11851589	0.81[EUR][1000 genomes]
rs17109116	0.81[EUR][1000 genomes]
rs17177822	0.81[EUR][1000 genomes]
rs17767296	0.83[GIH][hapmap];0.82[AMR][1000 genomes]
rs1990035	0.83[GIH][hapmap];0.80[MEX][hapmap]
rs4902887	1.00[CHB][hapmap]
rs4902916	0.89[GIH][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4902917	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4902918	0.81[EUR][1000 genomes]
rs4902922	0.82[AMR][1000 genomes]
rs55737377	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60536344	0.81[EUR][1000 genomes]
rs61174376	0.81[EUR][1000 genomes]
rs61989206	0.82[AMR][1000 genomes]
rs61989207	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61989208	0.82[AMR][1000 genomes]
rs6574006	0.89[GIH][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6574007	0.81[EUR][1000 genomes]
rs7146169	0.83[GIH][hapmap];0.80[MEX][hapmap];0.82[AMR][1000 genomes]
rs7150921	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7153194	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72726657	0.84[EUR][1000 genomes]
rs72726677	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8005089	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005615	0.81[EUR][1000 genomes]
rs8005925	0.81[EUR][1000 genomes]
rs8010203	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1036929	chr14:71469148-71683412	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8017895	PCNX	cis	cerebellum	SCAN
rs8017895	PNMA1	cis	cerebellum	SCAN
rs8017895	PCNX	cis	parietal	SCAN
rs8017895	SIPA1L1	cis	cerebellum	SCAN
rs8017895	SLC39A9	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71661200-71679400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:71664400-71672600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:71667800-71673400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:71669600-71677000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:71670000-71673400	Weak transcription	HSMMtube	muscle
6	chr14:71670200-71673200	Weak transcription	HSMM	muscle
7	chr14:71670200-71673200	Weak transcription	NHDF-Ad	bronchial
8	chr14:71670200-71677200	Weak transcription	Spleen	Spleen
9	chr14:71670400-71673000	Weak transcription	Osteobl	bone
10	chr14:71670400-71673400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:71670600-71673400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:71671400-71673400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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