Variant report

Variant	rs57590158
Chromosome Location	chr3:111255504-111255505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11928364	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11928649	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16858218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16858221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16858229	0.89[AFR][1000 genomes]
rs16858237	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16858238	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16858274	0.91[AMR][1000 genomes]
rs16858276	0.91[AMR][1000 genomes]
rs16858277	0.91[AMR][1000 genomes]
rs16858280	0.91[AMR][1000 genomes]
rs16858281	0.91[AMR][1000 genomes]
rs2276872	0.91[AMR][1000 genomes]
rs57476687	0.91[AMR][1000 genomes]
rs58085859	0.95[AFR][1000 genomes]
rs58195592	0.95[AFR][1000 genomes]
rs58906230	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60925257	0.91[AMR][1000 genomes]
rs60973340	0.91[AMR][1000 genomes]
rs721335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72622318	0.91[AMR][1000 genomes]
rs72622319	0.91[AMR][1000 genomes]
rs72622320	0.91[AMR][1000 genomes]
rs72622321	0.91[AMR][1000 genomes]
rs72939542	0.90[AFR][1000 genomes]
rs73852803	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73855128	0.95[AFR][1000 genomes]
rs73855135	0.97[AFR][1000 genomes]
rs73855136	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73855137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73855138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73855139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73855140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73855144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73855145	0.96[AMR][1000 genomes]
rs7629206	0.91[AMR][1000 genomes]
rs981953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs981954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs981955	1.00[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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv997756	chr3:111226058-111376585	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv3946	chr3:111236035-111283038	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111253600-111257400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:111253800-111257200	Weak transcription	Hela-S3	cervix
3	chr3:111253800-111257200	Weak transcription	HMEC	breast
4	chr3:111253800-111257200	Weak transcription	NH-A	brain
5	chr3:111254200-111257000	Weak transcription	Dnd41	blood
6	chr3:111254200-111257200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:111254200-111257200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:111254200-111257200	Weak transcription	HSMM	muscle
9	chr3:111254200-111257200	Weak transcription	Osteobl	bone
10	chr3:111254200-111257400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:111254200-111257400	Weak transcription	HSMMtube	muscle
12	chr3:111254200-111257800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:111254400-111257000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:111254400-111257200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:111254400-111257200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr3:111254400-111257200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:111254400-111257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:111254600-111257000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:111254600-111257200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:111254600-111257200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr3:111254800-111256200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr3:111254800-111257600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:111255200-111258000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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