Variant report

Variant	rs1548051
Chromosome Location	chr1:45581969-45581970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11211073	1.00[YRI][hapmap]
rs16832371	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832472	1.00[AMR][1000 genomes]
rs3219473	1.00[AMR][1000 genomes]
rs56656474	1.00[AMR][1000 genomes]
rs56740822	1.00[AMR][1000 genomes]
rs59234831	1.00[AMR][1000 genomes]
rs60338658	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45568200-45594600	Weak transcription	Right Atrium	heart
2	chr1:45574200-45582600	Weak transcription	Ovary	ovary
3	chr1:45580800-45584200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:45581200-45583400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:45581200-45583600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr1:45581200-45584400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr1:45581200-45584400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:45581400-45584000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:45581600-45582000	Enhancers	Primary T cells from cord blood	blood
10	chr1:45581600-45582600	Enhancers	Dnd41	blood
11	chr1:45581600-45582800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr1:45581600-45582800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:45581600-45583000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:45581600-45583800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:45581600-45583800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:45581600-45583800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr1:45581600-45584000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:45581600-45584000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:45581600-45584000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:45581800-45583000	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:45581800-45583200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:45581800-45584000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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