Variant report

Variant	rs910371
Chromosome Location	chr14:39911169-39911170
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10131617	0.82[CHB][hapmap]
rs10133417	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs10134365	0.82[CHB][hapmap]
rs10137352	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs10137905	0.91[CHB][hapmap];0.90[CHD][hapmap];0.80[TSI][hapmap]
rs10151659	0.87[CHB][hapmap];0.83[CHD][hapmap]
rs10162550	0.82[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap]
rs11157053	0.83[CHB][hapmap]
rs11157058	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs11157067	0.88[AFR][1000 genomes]
rs11620695	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs11626679	0.80[CHB][hapmap]
rs11627580	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11847057	0.95[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12232110	0.96[ASN][1000 genomes]
rs12587625	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12587713	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs12588110	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12588175	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12588483	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12589427	0.97[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12590172	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12880644	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12882250	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12883652	0.84[ASN][1000 genomes]
rs12884747	0.97[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12886769	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12894855	0.91[CHB][hapmap];0.81[JPT][hapmap];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12896502	0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12897960	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1594842	0.86[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap]
rs17109073	0.82[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs17109300	1.00[ASW][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17109328	0.92[AFR][1000 genomes]
rs1950329	0.97[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1950334	0.95[AFR][1000 genomes]
rs1950336	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950338	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1955718	0.97[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2038278	0.84[ASN][1000 genomes]
rs2057137	0.91[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.84[LWK][hapmap];0.85[MKK][hapmap];0.83[ASN][1000 genomes]
rs2057138	0.91[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2207291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274395	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2274396	0.91[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs2274399	0.87[CHB][hapmap];0.84[CHD][hapmap]
rs2415543	0.85[ASW][hapmap];0.85[MEX][hapmap]
rs2415549	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2415550	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899888	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2899889	0.89[ASN][1000 genomes]
rs34432449	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34589600	0.81[ASN][1000 genomes]
rs34649642	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34687394	0.97[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34894621	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35115885	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35459433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35553183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35643160	0.97[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs35693868	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35876588	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35923045	0.92[AFR][1000 genomes]
rs36010374	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814860	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899245	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899277	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4899278	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4899287	0.82[ASN][1000 genomes]
rs4899291	0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4902569	0.85[ASW][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4902570	0.85[ASW][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4902598	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902599	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902622	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902636	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902637	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902648	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902665	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902692	0.91[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs56046902	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56375627	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6571919	0.83[CHB][hapmap]
rs67439322	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs67963654	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs71407788	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71407789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140983	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7145821	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7148150	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs7148377	0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7152341	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7152935	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7153413	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7158709	0.97[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7161403	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs718364	0.87[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs719455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72675487	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8003397	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003621	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8004716	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs8006123	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8006321	1.00[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8012768	0.86[MEX][hapmap]
rs8018717	0.83[CHB][hapmap]
rs8020250	0.92[AFR][1000 genomes]
rs910370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332387	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs956109	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv832774	chr14:39897746-40060823	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs910371	LRFN5	cis	cerebellum	SCAN
rs910371	PPP2R3C	cis	parietal	SCAN
rs910371	CTAGE5	cis	multi-tissue	Pritchard

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39902400-39911400	Weak transcription	Gastric	stomach
2	chr14:39903000-39911200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:39903000-39912600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:39903000-39916400	Weak transcription	Fetal Heart	heart
5	chr14:39903200-39912000	Weak transcription	Aorta	Aorta
6	chr14:39909800-39911200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:39910000-39911800	ZNF genes & repeats	Lung	lung
8	chr14:39910200-39911200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:39910600-39911200	ZNF genes & repeats	Pancreas	Pancrea
10	chr14:39910800-39912400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:39911000-39911200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:39911000-39911200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr14:39911000-39911600	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:39911000-39911600	ZNF genes & repeats	Ovary	ovary
15	chr14:39911000-39911600	Enhancers	Skeletal Muscle Male	skeletal muscle

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