Variant report

Variant	rs1984525
Chromosome Location	chr15:74268043-74268044
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12324082	0.93[ASN][1000 genomes]
rs12324916	0.93[ASN][1000 genomes]
rs16958591	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1984526	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289411	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289412	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289413	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301272	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301273	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415187	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28491832	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28501585	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28642322	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28664814	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784560	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7495728	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8023773	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8038882	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039455	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040503	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042532	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9920026	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74265800-74268200	Weak transcription	NHEK	skin
2	chr15:74265800-74268200	Weak transcription	NHLF	lung
3	chr15:74265800-74271600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:74265800-74272600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:74265800-74273800	Weak transcription	Spleen	Spleen
6	chr15:74265800-74273800	Weak transcription	HMEC	breast
7	chr15:74265800-74274000	Weak transcription	Right Ventricle	heart
8	chr15:74265800-74274200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:74265800-74275800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:74266000-74268200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:74266000-74273000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:74266400-74268400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:74266800-74268400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr15:74266800-74268600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr15:74267000-74268600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr15:74267000-74268800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr15:74267000-74268800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr15:74267000-74269000	Enhancers	Primary hematopoietic stem cells	blood
19	chr15:74267200-74268400	Enhancers	Primary T cells from cord blood	blood
20	chr15:74267200-74268600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr15:74267200-74268800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr15:74267200-74268800	Enhancers	Thymus	Thymus
23	chr15:74267200-74269000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr15:74267200-74277000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:74267400-74268400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr15:74267400-74268600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr15:74267400-74268600	Enhancers	GM12878-XiMat	blood
28	chr15:74267600-74268800	Enhancers	Fetal Thymus	thymus
29	chr15:74267800-74268600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:74267800-74268600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:74267800-74268600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr15:74267800-74268800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:74267800-74268800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:74267800-74268800	Bivalent Enhancer	Dnd41	blood
35	chr15:74268000-74268400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr15:74268000-74268400	Enhancers	Fetal Muscle Trunk	muscle
37	chr15:74268000-74268800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr15:74268000-74268800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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