Variant report

Variant	rs17763953
Chromosome Location	chr14:79969194-79969195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10083466	0.90[JPT][hapmap];0.92[LWK][hapmap];0.80[MKK][hapmap]
rs10130663	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10133502	0.90[JPT][hapmap]
rs10144362	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10150805	0.82[CEU][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10483923	0.91[JPT][hapmap]
rs1080129	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11845632	0.85[CEU][hapmap];0.82[CHB][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11848580	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs11848640	0.92[EUR][1000 genomes]
rs11849345	0.89[EUR][1000 genomes]
rs11850075	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11850956	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12588083	0.91[JPT][hapmap]
rs12884436	0.90[JPT][hapmap]
rs12885724	0.91[JPT][hapmap]
rs17109299	0.82[JPT][hapmap]
rs17109313	0.85[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2043585	0.89[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes]
rs2217889	0.92[CEU][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs2371101	0.91[JPT][hapmap]
rs35879888	0.91[EUR][1000 genomes]
rs4566079	0.92[CEU][hapmap];0.98[TSI][hapmap]
rs4903863	0.91[JPT][hapmap]
rs4903864	0.91[JPT][hapmap]
rs56111431	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61504574	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61995170	0.92[EUR][1000 genomes]
rs61995179	0.88[EUR][1000 genomes]
rs61995180	0.86[EUR][1000 genomes]
rs7145991	0.82[JPT][hapmap]
rs7146075	0.91[JPT][hapmap]
rs7147705	0.91[JPT][hapmap]
rs7150181	0.92[CEU][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7151972	0.82[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8017761	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8020593	0.82[CEU][hapmap];0.82[TSI][hapmap];0.92[EUR][1000 genomes]
rs9323673	0.82[CEU][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][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	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	nsv521160	chr14:79963569-79971835	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1811223	chr14:79967761-79981954	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17763953	LTBP2	cis	cerebellum	SCAN
rs17763953	C14orf178	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79966000-79976400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:79967800-79969400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr14:79968400-79969200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:79968400-79969200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:79968400-79969200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:79968400-79969200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:79968400-79969200	Enhancers	Fetal Lung	lung
8	chr14:79968400-79969400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:79968400-79969400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr14:79968600-79969400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr14:79968800-79969200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr14:79969000-79969200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr14:79969000-79969400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr14:79969000-79971200	Weak transcription	Brain Germinal Matrix	brain

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