Variant report

Variant	rs2202175
Chromosome Location	chr14:79555651-79555652
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:79554622..79556371-chr14:79563139..79566085,2	K562	blood:

Extended variants
information (count: 131 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10133874	0.81[CEU][hapmap];0.95[TSI][hapmap]
rs10135754	0.81[CEU][hapmap]
rs10135769	0.81[CEU][hapmap]
rs10139452	0.84[EUR][1000 genomes]
rs10139460	0.92[CEU][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs10141828	0.92[CEU][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs10141996	0.87[EUR][1000 genomes]
rs10142256	0.86[EUR][1000 genomes]
rs10143998	0.97[EUR][1000 genomes]
rs10146180	0.92[CEU][hapmap];0.92[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs10146542	0.81[CEU][hapmap]
rs10147558	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs10147940	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs10148388	0.91[EUR][1000 genomes]
rs10150011	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs10151590	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs11159391	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs11159392	0.82[AMR][1000 genomes]
rs11159395	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11625343	0.92[CEU][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs11627661	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs11627905	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs12147468	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12147740	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12323794	0.92[CEU][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs12431671	1.00[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];0.97[ASN][1000 genomes]
rs12432817	0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12434809	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12435865	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12586394	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs12880107	0.85[JPT][hapmap]
rs12880289	0.81[JPT][hapmap]
rs12881434	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12882464	0.81[EUR][1000 genomes]
rs12887850	0.92[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs12890392	0.86[YRI][hapmap]
rs12894123	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12895916	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12897265	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1532728	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes]
rs154325	0.92[JPT][hapmap]
rs1547533	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1547535	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1566675	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17108558	0.80[EUR][1000 genomes]
rs17108575	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs1875595	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1995411	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2035284	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2062740	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs2062741	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2062744	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2062746	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2088966	0.92[CEU][hapmap]
rs2088967	0.92[CEU][hapmap]
rs2202167	0.81[CEU][hapmap];0.95[TSI][hapmap]
rs2202168	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs2202171	0.92[CEU][hapmap]
rs2202172	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2202179	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2202180	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2202183	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2202184	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2221297	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2221298	0.81[CEU][hapmap]
rs2370895	0.88[CEU][hapmap]
rs2370900	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2370901	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2370902	0.92[EUR][1000 genomes]
rs2620398	0.96[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.98[EUR][1000 genomes]
rs28706257	0.91[EUR][1000 genomes]
rs28831381	0.87[EUR][1000 genomes]
rs2887887	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34121288	0.91[EUR][1000 genomes]
rs35916059	0.81[EUR][1000 genomes]
rs4899732	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4903813	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4903816	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs4903819	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4903820	0.92[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs4903823	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap]
rs4903825	0.92[EUR][1000 genomes]
rs4903830	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4903833	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs61639937	0.84[EUR][1000 genomes]
rs61992500	0.82[EUR][1000 genomes]
rs6574478	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs6574480	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6574492	0.87[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574493	0.92[CEU][hapmap]
rs7142308	0.84[JPT][hapmap];0.89[LWK][hapmap];0.93[TSI][hapmap]
rs7149325	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7151651	0.87[ASW][hapmap];0.92[YRI][hapmap]
rs7154545	0.85[YRI][hapmap]
rs7155818	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7157779	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs7161610	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72687406	0.84[EUR][1000 genomes]
rs8004582	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8005334	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs8006615	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8006983	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8007813	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8008393	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8009329	0.80[EUR][1000 genomes]
rs8009383	0.96[CEU][hapmap];0.90[TSI][hapmap]
rs8009417	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes]
rs8010365	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs8010673	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs8011832	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs8012099	0.86[EUR][1000 genomes]
rs8013072	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8014314	0.88[EUR][1000 genomes]
rs8016232	0.81[CEU][hapmap];0.95[TSI][hapmap]
rs8016756	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs8017018	0.92[CEU][hapmap];0.82[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs8018180	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8019071	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8020811	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs872483	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs9323670	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs9323671	0.92[CEU][hapmap]
rs937648	0.92[CEU][hapmap]
rs997842	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv948724	chr14:79484233-79614043	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv565247	chr14:79508316-79555651	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2761846	chr14:79522198-79629157	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3493492	chr14:79553549-79555947	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2202175	C14orf148	cis	parietal	SCAN
rs2202175	VASH1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79547200-79555800	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:79547800-79556800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:79554000-79555800	Weak transcription	Fetal Brain Male	brain
4	chr14:79555600-79557400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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