Variant report

Variant	rs2268962
Chromosome Location	chr14:66147273-66147274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10483780	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs10483785	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1054218	0.82[CEU][hapmap]
rs1075566	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11158601	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11158602	0.87[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11158611	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11621680	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs11622014	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11622271	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11622829	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11624045	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11624104	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11625362	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11625882	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11627067	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11627084	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs11627184	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11627185	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11627578	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11627605	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11628765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11628840	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12050182	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12050231	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12586842	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12588838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12879805	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12882200	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12883382	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12886334	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12887134	0.96[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12887673	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12887957	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12888212	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12889002	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12890123	0.80[EUR][1000 genomes]
rs12890902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12890978	0.88[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs12894034	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12894466	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12894902	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12896663	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1535173	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1958561	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1998036	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2064694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149841	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs2184603	0.81[EUR][1000 genomes]
rs2268961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2411351	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2411355	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2411357	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2411404	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2411405	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2411816	0.82[EUR][1000 genomes]
rs35664643	0.81[AMR][1000 genomes]
rs3783709	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3825640	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs4073415	0.81[CEU][hapmap]
rs4143898	0.89[CEU][hapmap];0.89[TSI][hapmap]
rs4581615	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4902400	0.80[EUR][1000 genomes]
rs4902407	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4902415	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4902416	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6573624	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573626	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67957534	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7142165	0.82[EUR][1000 genomes]
rs7142219	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7142651	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7146742	0.85[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7146829	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7149301	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7153297	0.81[EUR][1000 genomes]
rs7155541	0.96[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7157449	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7161123	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs730807	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs743084	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs743085	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7493004	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs761831	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8005710	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8010876	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8012278	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8018278	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8022764	0.80[ASN][1000 genomes]
rs927004	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9796385	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv902026	chr14:66061020-66171541	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2268962	FUT8	cis	cerebellum	SCAN
rs2268962	HIF1A	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66100600-66160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:66105000-66149600	Weak transcription	Fetal Thymus	thymus
3	chr14:66105000-66157400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:66125600-66157400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:66126800-66153400	Weak transcription	Aorta	Aorta
6	chr14:66134200-66153200	Weak transcription	Ovary	ovary
7	chr14:66136200-66155400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:66136400-66148600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr14:66137000-66189000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr14:66138000-66177400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr14:66139200-66153800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:66139200-66155400	Weak transcription	Primary T cells from cord blood	blood
13	chr14:66140200-66150000	Weak transcription	GM12878-XiMat	blood
14	chr14:66141600-66156600	Weak transcription	Fetal Intestine Large	intestine
15	chr14:66142000-66148600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:66143800-66155600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:66144800-66155200	Weak transcription	Dnd41	blood
18	chr14:66146600-66147800	Enhancers	Brain Angular Gyrus	brain
19	chr14:66146600-66147800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:66146800-66147600	Enhancers	Brain Hippocampus Middle	brain
21	chr14:66146800-66147600	Enhancers	Stomach Mucosa	stomach
22	chr14:66147000-66147800	Strong transcription	Primary B cells from cord blood	blood
23	chr14:66147200-66147600	Weak transcription	Brain Substantia Nigra	brain
24	chr14:66147200-66152600	Weak transcription	Brain Cingulate Gyrus	brain

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