Variant report

Variant	rs28823043
Chromosome Location	chr14:66193658-66193659
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10129187	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10129472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10129732	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10130560	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10135594	1.00[EUR][1000 genomes]
rs10135934	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10136412	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10136763	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10143822	1.00[EUR][1000 genomes]
rs10145993	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10145996	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146179	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150052	0.91[ASN][1000 genomes]
rs10151921	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10162379	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10162474	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10162506	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483784	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12588029	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13379147	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13379229	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17102757	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102836	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17102844	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17102896	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17102920	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17779571	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1813030	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1950559	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1958562	0.93[EUR][1000 genomes]
rs2092915	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2411814	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28373922	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28390075	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28427101	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28694288	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28695252	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28830595	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28871950	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898817	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3783707	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4516142	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs45549535	0.93[EUR][1000 genomes]
rs57638372	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58170348	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59970730	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61987818	0.91[ASN][1000 genomes]
rs6573623	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7140251	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7145319	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7145834	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7148401	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7151690	0.92[ASN][1000 genomes]
rs7160505	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73270603	0.96[ASN][1000 genomes]
rs73270608	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs73284201	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8012058	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8014146	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8015947	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8017901	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9323462	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9323464	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9972109	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][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	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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66179000-66206200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:66182800-66195800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:66184600-66196000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:66184600-66198600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:66185400-66209000	Weak transcription	Brain Angular Gyrus	brain
6	chr14:66186400-66208800	Weak transcription	Fetal Brain Female	brain
7	chr14:66187000-66209000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:66187200-66193800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:66187400-66208600	Weak transcription	Placenta	Placenta
10	chr14:66187600-66193800	Weak transcription	Left Ventricle	heart
11	chr14:66187600-66200000	Weak transcription	Brain Substantia Nigra	brain
12	chr14:66188000-66193800	Weak transcription	Brain Germinal Matrix	brain
13	chr14:66188000-66196800	Strong transcription	Primary B cells from cord blood	blood
14	chr14:66188000-66210800	Weak transcription	Fetal Lung	lung
15	chr14:66188200-66201400	Weak transcription	Psoas Muscle	Psoas
16	chr14:66188400-66193800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr14:66188400-66197000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:66188400-66210600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr14:66188600-66194400	Strong transcription	Fetal Intestine Large	intestine
20	chr14:66188600-66195000	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:66188800-66208800	Weak transcription	Liver	Liver
22	chr14:66189000-66196800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:66189000-66209000	Weak transcription	NHDF-Ad	bronchial
24	chr14:66189600-66194000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr14:66189600-66210800	Weak transcription	NHLF	lung
26	chr14:66189800-66209000	Weak transcription	HSMMtube	muscle
27	chr14:66190000-66208800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:66190000-66210800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:66190200-66193800	Weak transcription	Thymus	Thymus
30	chr14:66190200-66197800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr14:66190200-66198400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr14:66190200-66210800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:66190400-66198600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:66190400-66217000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:66190600-66193800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr14:66190600-66196800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:66190600-66197200	Strong transcription	Primary T cells from cord blood	blood
38	chr14:66190800-66193800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:66190800-66193800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr14:66190800-66194400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:66190800-66195600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:66190800-66195600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:66191400-66194400	Strong transcription	Brain Cingulate Gyrus	brain
44	chr14:66191400-66194400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr14:66191400-66195800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:66191600-66194600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr14:66191600-66212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:66191800-66193800	Weak transcription	Ovary	ovary
49	chr14:66191800-66199800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:66191800-66200000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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