Variant report

Variant	rs9323673
Chromosome Location	chr14:79977100-79977101
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10083492	0.83[JPT][hapmap]
rs10130369	0.84[JPT][hapmap]
rs10130663	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10144362	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10149385	0.94[JPT][hapmap]
rs10150805	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151942	0.94[JPT][hapmap]
rs1080129	0.92[EUR][1000 genomes]
rs11845632	0.89[CEU][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs11848580	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11848640	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11849345	0.96[EUR][1000 genomes]
rs11850075	0.87[EUR][1000 genomes]
rs11850956	0.84[MEX][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs17109313	0.96[CEU][hapmap];0.98[GIH][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17763953	0.82[CEU][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2043585	0.92[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2217889	0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs35879888	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4566079	0.87[TSI][hapmap]
rs56111431	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61504574	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61995170	0.94[EUR][1000 genomes]
rs61995179	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61995180	0.91[EUR][1000 genomes]
rs7145128	0.83[MEX][hapmap]
rs7150181	0.94[ASW][hapmap];0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7151972	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8005235	0.81[CEU][hapmap]
rs8017761	0.89[CEU][hapmap]
rs8020593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1811223	chr14:79967761-79981954	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1805690	chr14:79971835-79981954	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1806121	chr14:79971835-79981954	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1807999	chr14:79971835-79981954	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1809543	chr14:79971835-79981954	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1812098	chr14:79971835-79981954	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9323673	LTBP2	cis	cerebellum	SCAN
rs9323673	C14orf178	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79975000-79982200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:79976400-79977400	Enhancers	Stomach Smooth Muscle	stomach
3	chr14:79976400-79977600	Enhancers	NHEK	skin
4	chr14:79976400-79977800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr14:79976600-79977400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:79976600-79977600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr14:79976600-79977800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:79976600-79977800	Enhancers	HSMM	muscle
9	chr14:79976600-79977800	Enhancers	NH-A	brain
10	chr14:79976600-79978000	Enhancers	NHLF	lung
11	chr14:79976800-79977200	Flanking Active TSS	HSMMtube	muscle
12	chr14:79976800-79977200	Enhancers	Osteobl	bone
13	chr14:79976800-79977600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:79976800-79977800	Enhancers	Brain Germinal Matrix	brain
15	chr14:79977000-79977200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:79977000-79977800	Enhancers	Fetal Muscle Leg	muscle

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