Variant report

Variant	rs74145553
Chromosome Location	chr1:222945475-222945476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17011702	1.00[AMR][1000 genomes]
rs17163347	1.00[AMR][1000 genomes]
rs17163458	1.00[AMR][1000 genomes]
rs17163479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17163502	1.00[AMR][1000 genomes]
rs74145517	1.00[AMR][1000 genomes]
rs74145518	1.00[AMR][1000 genomes]
rs74145541	1.00[AMR][1000 genomes]
rs74145543	1.00[AMR][1000 genomes]
rs74145544	1.00[AMR][1000 genomes]
rs74145547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74145549	1.00[AFR][1000 genomes]
rs74145550	1.00[AMR][1000 genomes]
rs74145551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74145552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74145556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74145562	0.85[AFR][1000 genomes];1.00[AMR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv3369664	chr1:222935606-222958164	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222942800-222951400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:222944000-222945600	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:222944000-222946000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:222944200-222946000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:222944400-222945800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:222944400-222945800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:222944400-222946000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:222944600-222945600	Enhancers	Primary B cells from cord blood	blood
9	chr1:222944800-222945600	Enhancers	Primary T cells from cord blood	blood
10	chr1:222944800-222946000	Enhancers	Fetal Brain Male	brain
11	chr1:222944800-222946200	Enhancers	Placenta	Placenta
12	chr1:222944800-222947200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:222944800-222947200	Enhancers	Fetal Thymus	thymus
14	chr1:222945000-222946200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:222945000-222946200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:222945000-222947600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:222945200-222945600	Enhancers	Fetal Muscle Leg	muscle
18	chr1:222945200-222945800	Weak transcription	Thymus	Thymus
19	chr1:222945200-222946200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr1:222945200-222946400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr1:222945200-222946400	Active TSS	Brain Anterior Caudate	brain
22	chr1:222945200-222946400	Flanking Active TSS	Dnd41	blood
23	chr1:222945200-222946400	Flanking Active TSS	GM12878-XiMat	blood
24	chr1:222945200-222946600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr1:222945200-222946800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:222945400-222945800	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr1:222945400-222946000	Enhancers	Fetal Lung	lung

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