Variant report

Variant	rs12050182
Chromosome Location	chr14:66243080-66243081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10483785	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1075566	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158611	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622271	0.81[EUR][1000 genomes]
rs11622829	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs11624104	0.89[CEU][hapmap];0.84[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11625362	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625882	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627067	0.89[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11627184	1.00[ASW][hapmap];0.89[CEU][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap]
rs11627185	0.89[CEU][hapmap]
rs11627578	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627605	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628765	0.88[CEU][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11628840	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848443	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11848444	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11848463	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12050231	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586842	0.81[EUR][1000 genomes]
rs12588838	0.89[CEU][hapmap];0.89[CHB][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12882200	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12883382	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12887134	0.85[CEU][hapmap]
rs12887673	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12887957	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888212	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12889002	0.88[CEU][hapmap];0.84[CHB][hapmap]
rs12890902	0.89[CEU][hapmap];0.83[CHB][hapmap];0.82[AFR][1000 genomes]
rs12894034	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894466	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894902	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1535173	1.00[ASW][hapmap];0.89[CEU][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1998036	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2064694	0.89[CEU][hapmap];0.84[CHB][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2268961	0.89[CEU][hapmap];0.84[CHB][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2268962	1.00[ASW][hapmap];0.89[CEU][hapmap];0.84[CHB][hapmap];0.80[CHD][hapmap];0.91[GIH][hapmap];0.87[LWK][hapmap];0.87[MEX][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2300865	0.89[CEU][hapmap];0.84[CHB][hapmap];0.82[AFR][1000 genomes]
rs2411351	1.00[ASW][hapmap];0.89[CEU][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap];0.82[EUR][1000 genomes]
rs2411404	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2411405	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28459012	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28616692	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3783709	0.89[CEU][hapmap]
rs4073415	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4581615	0.89[CEU][hapmap]
rs4902415	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902416	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56720460	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56922569	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59636756	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61988977	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573624	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573626	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142018	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7142165	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7142219	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142651	0.89[CEU][hapmap];0.89[CHB][hapmap];0.81[EUR][1000 genomes]
rs7146829	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7149301	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151846	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7155541	0.85[CEU][hapmap]
rs7157449	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161123	1.00[ASW][hapmap];0.89[CEU][hapmap];0.83[CHB][hapmap];0.91[GIH][hapmap];0.87[LWK][hapmap];0.87[MEX][hapmap]
rs730807	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743084	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743085	1.00[ASW][hapmap];0.85[CEU][hapmap];0.80[CHD][hapmap];0.88[GIH][hapmap];0.87[LWK][hapmap];0.87[MEX][hapmap]
rs761831	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007846	0.82[ASN][1000 genomes]
rs8010876	0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8012278	1.00[ASW][hapmap];0.85[CEU][hapmap];0.80[CHD][hapmap];0.90[GIH][hapmap];0.87[LWK][hapmap];0.87[MEX][hapmap]
rs8018278	0.89[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8018379	0.83[ASN][1000 genomes]
rs8022764	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927004	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9323465	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs968540	0.82[CEU][hapmap]

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	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12050182	HIF1A	cis	cerebellum	SCAN
rs12050182	FUT8	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66237800-66243600	Enhancers	Fetal Intestine Small	intestine
2	chr14:66237800-66243800	Enhancers	Fetal Intestine Large	intestine
3	chr14:66238200-66243400	Enhancers	Stomach Mucosa	stomach
4	chr14:66242000-66243400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr14:66242800-66243600	Enhancers	Small Intestine	intestine
6	chr14:66243000-66243200	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr14:66243000-66243200	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr14:66243000-66243400	Enhancers	Duodenum Mucosa	Duodenum

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