Variant report

Variant	rs1957520
Chromosome Location	chr14:25134724-25134725
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10135076	0.82[EUR][1000 genomes]
rs10135223	0.85[EUR][1000 genomes]
rs10467736	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10467737	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12323930	0.85[EUR][1000 genomes]
rs12878578	0.82[CEU][hapmap]
rs17257110	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs1951590	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2025213	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4982984	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4982986	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4982987	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7141222	0.85[EUR][1000 genomes]
rs72681039	0.85[EUR][1000 genomes]
rs8009072	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9989226	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv510631	chr14:25045183-25172311	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv901503	chr14:25133186-25172456	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25129000-25134800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr14:25129000-25135200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:25129000-25135400	Enhancers	Primary hematopoietic stem cells	blood
4	chr14:25130400-25135400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:25131400-25135400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr14:25131600-25135600	Enhancers	Primary B cells from peripheral blood	blood
7	chr14:25132200-25134800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:25132400-25135200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr14:25133200-25135400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:25133200-25135400	Enhancers	HMEC	breast
11	chr14:25133600-25135400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr14:25133800-25135200	Enhancers	Fetal Thymus	thymus
13	chr14:25134000-25135200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:25134000-25135400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:25134200-25134800	Enhancers	Primary B cells from cord blood	blood
16	chr14:25134200-25135200	Enhancers	Primary T cells from cord blood	blood
17	chr14:25134200-25135200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:25134200-25135200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr14:25134200-25135400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:25134200-25135400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr14:25134200-25135400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:25134400-25134800	Enhancers	Right Atrium	heart
23	chr14:25134400-25135200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr14:25134400-25135200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:25134400-25135200	Enhancers	Thymus	Thymus
26	chr14:25134400-25135400	Flanking Active TSS	GM12878-XiMat	blood
27	chr14:25134600-25135000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr14:25134600-25135000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr14:25134600-25135000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr14:25134600-25135000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:25134600-25135200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr14:25134600-25135200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:25134600-25135200	Flanking Active TSS	NHEK	skin
34	chr14:25134600-25135400	Enhancers	Small Intestine	intestine

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