Variant report

Variant	rs11622271
Chromosome Location	chr14:66149065-66149066
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10483780	0.80[EUR][1000 genomes]
rs10483785	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1075566	0.81[EUR][1000 genomes]
rs11158601	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11158602	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11158611	0.81[EUR][1000 genomes]
rs11621680	0.80[ASN][1000 genomes]
rs11622014	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11622829	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11624045	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11624104	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11625362	0.82[EUR][1000 genomes]
rs11625882	0.81[EUR][1000 genomes]
rs11627067	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11627084	0.80[EUR][1000 genomes]
rs11627184	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11627185	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11627578	0.82[EUR][1000 genomes]
rs11627605	0.82[EUR][1000 genomes]
rs11628765	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11628840	0.82[EUR][1000 genomes]
rs12050182	0.81[EUR][1000 genomes]
rs12050231	0.81[EUR][1000 genomes]
rs12586842	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12588838	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12879805	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12882200	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12883382	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12886334	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12887134	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12887673	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12887957	0.81[EUR][1000 genomes]
rs12888212	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12889002	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12890902	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12890978	0.80[EUR][1000 genomes]
rs12894034	0.81[EUR][1000 genomes]
rs12894466	0.81[EUR][1000 genomes]
rs12894902	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12896663	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1535173	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1958561	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1998036	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2064694	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2149841	0.83[EUR][1000 genomes]
rs2268961	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2268962	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2300865	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2411351	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2411355	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2411357	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2411404	0.81[EUR][1000 genomes]
rs2411405	0.81[EUR][1000 genomes]
rs2411816	0.80[EUR][1000 genomes]
rs35664643	0.81[AMR][1000 genomes]
rs3783709	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4581615	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902407	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4902415	0.82[EUR][1000 genomes]
rs4902416	0.82[EUR][1000 genomes]
rs6573624	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573626	0.80[EUR][1000 genomes]
rs67957534	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7142165	0.80[EUR][1000 genomes]
rs7142651	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7146742	0.80[ASN][1000 genomes]
rs7146829	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7149301	0.82[EUR][1000 genomes]
rs7153297	0.80[EUR][1000 genomes]
rs7155541	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7157449	0.81[EUR][1000 genomes]
rs7161123	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs730807	0.81[EUR][1000 genomes]
rs743084	0.82[EUR][1000 genomes]
rs743085	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7493004	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs761831	0.81[EUR][1000 genomes]
rs8005710	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8010876	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8012278	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8018278	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs927004	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9796385	0.82[AMR][1000 genomes];0.85[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

No data

Chromatin state (count:22 , 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	chr14:66137000-66189000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:66138000-66177400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr14:66139200-66153800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:66139200-66155400	Weak transcription	Primary T cells from cord blood	blood
12	chr14:66140200-66150000	Weak transcription	GM12878-XiMat	blood
13	chr14:66141600-66156600	Weak transcription	Fetal Intestine Large	intestine
14	chr14:66143800-66155600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:66144800-66155200	Weak transcription	Dnd41	blood
16	chr14:66147200-66152600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:66147600-66152800	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:66147600-66176000	Weak transcription	Stomach Mucosa	stomach
19	chr14:66147800-66152400	Weak transcription	Brain Angular Gyrus	brain
20	chr14:66147800-66152400	Weak transcription	Brain Substantia Nigra	brain
21	chr14:66147800-66170200	Weak transcription	Primary B cells from cord blood	blood
22	chr14:66149000-66155200	Weak transcription	Primary B cells from peripheral blood	blood

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