Variant report

Variant	rs72922799
Chromosome Location	chr3:98282787-98282788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11915528	1.00[EUR][1000 genomes]
rs11923249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58112158	1.00[EUR][1000 genomes]
rs58222292	1.00[EUR][1000 genomes]
rs61691130	1.00[EUR][1000 genomes]
rs61736100	1.00[EUR][1000 genomes]
rs72924716	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72939169	1.00[EUR][1000 genomes]
rs72939173	1.00[EUR][1000 genomes]
rs73854826	1.00[EUR][1000 genomes]
rs73858713	1.00[AMR][1000 genomes];1.00[EUR][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	nsv528056	chr3:98101101-98317836	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv520503	chr3:98102801-98317836	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv834775	chr3:98170059-98367552	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98273600-98292600	Weak transcription	K562	blood
2	chr3:98279600-98286000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:98280400-98283200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:98280400-98285800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:98280400-98287000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr3:98280600-98285000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr3:98280600-98286800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr3:98280600-98287000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:98280600-98288000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr3:98280800-98283200	Enhancers	NHEK	skin
11	chr3:98280800-98283400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:98280800-98283400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:98280800-98284400	Enhancers	HSMM	muscle
14	chr3:98280800-98285000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr3:98280800-98287200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr3:98280800-98288200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr3:98280800-98288200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr3:98281200-98282800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr3:98281200-98283200	Weak transcription	Fetal Thymus	thymus
20	chr3:98281200-98283200	Active TSS	GM12878-XiMat	blood
21	chr3:98281200-98284200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:98281200-98285800	Enhancers	Primary T cells from cord blood	blood
23	chr3:98281200-98286600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr3:98281200-98296200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr3:98281400-98295800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:98281600-98283200	Weak transcription	Spleen	Spleen
27	chr3:98282000-98282800	Enhancers	NH-A	brain
28	chr3:98282000-98285800	Enhancers	Dnd41	blood
29	chr3:98282200-98282800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:98282200-98282800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:98282200-98283000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:98282200-98283000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr3:98282400-98282800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:98282400-98283000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:98282400-98283000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr3:98282400-98283000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:98282400-98283000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:98282400-98283000	Enhancers	NHDF-Ad	bronchial
39	chr3:98282400-98283400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:98282400-98283400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:98282400-98283800	Enhancers	HMEC	breast
42	chr3:98282600-98282800	Enhancers	Primary B cells from cord blood	blood
43	chr3:98282600-98282800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr3:98282600-98288200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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