Variant report

Variant	rs28694288
Chromosome Location	chr14:66152947-66152948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10129187	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10129472	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10129732	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10130560	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10133902	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10133903	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10135594	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10135934	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10136412	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10136763	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10143822	1.00[EUR][1000 genomes]
rs10145993	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10145996	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146179	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150052	0.86[ASN][1000 genomes]
rs10151921	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10162379	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10162474	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10162506	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10220303	1.00[EUR][1000 genomes]
rs10220304	1.00[EUR][1000 genomes]
rs10483779	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10483784	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12588029	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13379147	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13379229	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17102757	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17102836	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17102844	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102896	0.90[ASN][1000 genomes]
rs17102920	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17181798	0.81[AMR][1000 genomes]
rs17779061	0.81[AMR][1000 genomes]
rs17779571	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1813030	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1950559	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958562	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2092915	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2411814	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411818	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411819	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28373922	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28390075	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28427101	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28430347	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28695252	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28823043	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28830595	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28871950	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898817	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898819	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3783707	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4516142	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45549535	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57638372	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58170348	1.00[EUR][1000 genomes]
rs59970730	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61987818	0.86[ASN][1000 genomes]
rs6573623	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7140251	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7145319	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145834	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7148401	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7151690	1.00[ASN][1000 genomes]
rs7160505	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73270603	0.96[ASN][1000 genomes]
rs73270608	0.93[ASN][1000 genomes]
rs73284130	1.00[EUR][1000 genomes]
rs73284149	1.00[EUR][1000 genomes]
rs73284201	1.00[EUR][1000 genomes]
rs8012058	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8014146	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8015947	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8017901	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9323462	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9323464	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9972109	0.82[AMR][1000 genomes];1.00[EUR][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:36 , 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	chr14:66105000-66157400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:66125600-66157400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:66126800-66153400	Weak transcription	Aorta	Aorta
5	chr14:66134200-66153200	Weak transcription	Ovary	ovary
6	chr14:66136200-66155400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:66137000-66189000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:66138000-66177400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr14:66139200-66153800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:66139200-66155400	Weak transcription	Primary T cells from cord blood	blood
11	chr14:66141600-66156600	Weak transcription	Fetal Intestine Large	intestine
12	chr14:66143800-66155600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:66144800-66155200	Weak transcription	Dnd41	blood
14	chr14:66147600-66176000	Weak transcription	Stomach Mucosa	stomach
15	chr14:66147800-66170200	Weak transcription	Primary B cells from cord blood	blood
16	chr14:66149000-66155200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:66151200-66153000	Enhancers	Brain Anterior Caudate	brain
18	chr14:66151200-66154200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr14:66152000-66153200	Weak transcription	GM12878-XiMat	blood
20	chr14:66152200-66153000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr14:66152200-66153200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:66152200-66153200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr14:66152200-66153600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr14:66152400-66153000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:66152400-66153200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr14:66152400-66153400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr14:66152400-66153400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:66152400-66153600	Enhancers	Brain Angular Gyrus	brain
29	chr14:66152400-66153800	Enhancers	Brain Substantia Nigra	brain
30	chr14:66152400-66154200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr14:66152400-66154200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:66152600-66153800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:66152600-66153800	Enhancers	Brain Cingulate Gyrus	brain
34	chr14:66152600-66154200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr14:66152800-66153600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr14:66152800-66154000	Enhancers	Brain Hippocampus Middle	brain

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