Variant report

Variant	rs12888681
Chromosome Location	chr14:24951554-24951555
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10130676	0.89[EUR][1000 genomes]
rs10135479	0.89[EUR][1000 genomes]
rs11623993	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11848085	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12587663	0.89[EUR][1000 genomes]
rs12589069	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12589236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12590069	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12590140	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12884912	0.86[EUR][1000 genomes]
rs12886471	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12886673	0.84[EUR][1000 genomes]
rs12889056	0.89[EUR][1000 genomes]
rs12889227	0.88[EUR][1000 genomes]
rs12889393	0.91[EUR][1000 genomes]
rs12890047	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12890665	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12891130	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12892792	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12893160	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893813	0.91[EUR][1000 genomes]
rs12894398	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894530	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896086	0.85[EUR][1000 genomes]
rs12896093	0.85[EUR][1000 genomes]
rs17200068	0.89[EUR][1000 genomes]
rs1951141	0.89[EUR][1000 genomes]
rs28656464	0.88[ASN][1000 genomes]
rs35019432	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35263299	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4982928	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4982932	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4982937	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56058252	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67775272	0.89[EUR][1000 genomes]
rs8005035	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014706	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1053330	chr14:24908047-24993666	Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	n/a
4	esv2761824	chr14:24914008-24993666	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
5	nsv1043355	chr14:24914008-24993666	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
6	nsv1045732	chr14:24914008-25019317	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
7	esv19772	chr14:24914740-24951857	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
8	nsv523200	chr14:24915383-24975032	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
9	nsv521915	chr14:24915383-24992619	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
10	nsv564062	chr14:24915383-24992619	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
11	nsv1039955	chr14:24927313-24993666	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
12	nsv1035903	chr14:24929447-24981097	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
13	nsv542001	chr14:24929447-24981097	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
14	nsv1042290	chr14:24930993-24990765	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
15	nsv542002	chr14:24930993-24990765	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24950800-24951600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:24950800-24953600	Enhancers	Primary T cells fromperipheralblood	blood
3	chr14:24950800-24954400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:24951000-24951600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:24951000-24951600	Enhancers	Primary T cells from cord blood	blood
6	chr14:24951000-24951600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr14:24951000-24951600	Enhancers	Right Ventricle	heart
8	chr14:24951000-24951600	Flanking Active TSS	HepG2	liver
9	chr14:24951000-24951800	Enhancers	Spleen	Spleen
10	chr14:24951000-24952000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:24951000-24953600	Enhancers	Placenta	Placenta
12	chr14:24951000-24953800	Enhancers	GM12878-XiMat	blood
13	chr14:24951000-24954000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr14:24951200-24952200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:24951200-24952200	Weak transcription	Fetal Thymus	thymus
16	chr14:24951200-24952400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:24951200-24952800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:24951200-24952800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:24951200-24953000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:24951400-24951600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:24951400-24952000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:24951400-24952600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:24951400-24952600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr14:24951400-24952600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:24951400-24952800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr14:24951400-24953000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr14:24951400-24953000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:24951400-24954000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:24951400-24954000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr14:24951400-24954400	Enhancers	Primary hematopoietic stem cells	blood

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