Variant report

Variant	rs7148401
Chromosome Location	chr14:66103263-66103264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10129187	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10129472	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10129732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10130560	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10133167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10133902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10133903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10135594	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10135934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10136412	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10136763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10143822	1.00[EUR][1000 genomes]
rs10145561	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10145993	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10145996	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151921	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10162379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10162474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10162506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10220303	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10220304	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483784	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12588029	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13379147	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13379229	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17102686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102757	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17102836	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17102844	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17102896	0.82[ASN][1000 genomes]
rs17102920	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17779061	0.81[AMR][1000 genomes]
rs17779571	0.93[EUR][1000 genomes]
rs1813030	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1950559	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1953419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1958562	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1959146	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1959147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1959148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2002691	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2092915	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2411814	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28373922	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28390075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28427101	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28430347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28452027	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28694288	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28695252	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28823043	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28830595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28871950	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3783707	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4516142	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45549535	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4600391	0.82[AMR][1000 genomes]
rs57638372	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58170348	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59970730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6573623	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7140251	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7141326	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7145319	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7145834	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7151690	0.92[ASN][1000 genomes]
rs7160505	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73270603	0.88[ASN][1000 genomes]
rs73270608	0.86[ASN][1000 genomes]
rs73284130	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73284149	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73284201	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8003664	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8012058	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8014146	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8015947	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8017901	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9323462	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9323464	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs945319	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9972109	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66077600-66114400	Weak transcription	Ovary	ovary
2	chr14:66079400-66104400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:66079600-66104400	Weak transcription	Gastric	stomach
4	chr14:66080800-66117600	Weak transcription	Left Ventricle	heart
5	chr14:66081400-66142200	Weak transcription	Thymus	Thymus
6	chr14:66081800-66112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:66082200-66112600	Weak transcription	NHDF-Ad	bronchial
8	chr14:66082800-66117600	Weak transcription	Aorta	Aorta
9	chr14:66084600-66104400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:66084800-66104000	Weak transcription	Stomach Mucosa	stomach
11	chr14:66086400-66119600	Weak transcription	Pancreas	Pancrea
12	chr14:66090800-66145000	Weak transcription	Small Intestine	intestine
13	chr14:66091800-66104000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:66092800-66141000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:66093800-66104200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:66096000-66105400	Weak transcription	HUVEC	blood vessel
17	chr14:66097800-66104600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:66098000-66104400	Weak transcription	NH-A	brain
19	chr14:66098000-66116000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:66098000-66125000	Weak transcription	Brain Substantia Nigra	brain
21	chr14:66098200-66115200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:66098200-66118800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:66099000-66104400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:66099000-66135200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr14:66099200-66104400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:66099200-66115200	Weak transcription	Placenta	Placenta
27	chr14:66099200-66135800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:66099200-66144000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:66099400-66104400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr14:66099400-66104400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:66099600-66103600	Weak transcription	Dnd41	blood
32	chr14:66100600-66160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:66100800-66104400	Weak transcription	Fetal Thymus	thymus
34	chr14:66101400-66104600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:66102200-66104600	Weak transcription	Primary B cells from cord blood	blood
36	chr14:66102200-66104800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr14:66102200-66108200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:66102800-66103800	Enhancers	Primary T cells from cord blood	blood
39	chr14:66102800-66105200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:66102800-66105200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:66103000-66103400	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr14:66103000-66103600	Enhancers	Primary B cells from peripheral blood	blood
43	chr14:66103000-66105200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr14:66103200-66103400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr14:66103200-66103600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr14:66103200-66104400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr14:66103200-66105000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:66103200-66105400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr14:66103200-66112400	Weak transcription	Fetal Intestine Large	intestine

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