Variant report

Variant	rs72944818
Chromosome Location	chr2:98560061-98560062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11892146	0.94[AFR][1000 genomes]
rs11898394	0.90[AFR][1000 genomes]
rs11900781	0.94[AFR][1000 genomes]
rs11903844	0.87[AFR][1000 genomes]
rs1503201	0.90[AFR][1000 genomes]
rs1503203	0.90[AFR][1000 genomes]
rs17022289	0.81[AFR][1000 genomes]
rs17025339	0.90[AFR][1000 genomes]
rs2309318	0.87[AFR][1000 genomes]
rs35774346	0.91[AFR][1000 genomes]
rs57434542	0.90[AFR][1000 genomes]
rs60828800	0.90[AFR][1000 genomes]
rs6543226	0.94[AFR][1000 genomes]
rs6726775	0.94[AFR][1000 genomes]
rs6734701	0.82[AFR][1000 genomes]
rs6736475	0.90[AFR][1000 genomes]
rs6737992	0.81[AFR][1000 genomes]
rs6742955	0.87[AFR][1000 genomes]
rs6746457	0.81[AFR][1000 genomes]
rs72942882	0.83[AFR][1000 genomes]
rs72942885	0.81[AFR][1000 genomes]
rs72942896	0.81[AFR][1000 genomes]
rs72942898	0.81[AFR][1000 genomes]
rs72944808	0.85[AFR][1000 genomes]
rs72944812	0.85[AFR][1000 genomes]
rs72944813	0.85[AFR][1000 genomes]
rs72944825	0.94[AFR][1000 genomes]
rs72944834	0.94[AFR][1000 genomes]
rs72944842	0.94[AFR][1000 genomes]
rs72946409	0.85[AFR][1000 genomes]
rs72946410	0.87[AFR][1000 genomes]
rs72946431	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98553000-98561600	Weak transcription	Primary T cells from cord blood	blood
2	chr2:98553200-98565800	Weak transcription	Small Intestine	intestine
3	chr2:98553800-98561200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:98553800-98562400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:98553800-98565800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:98554000-98561800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:98554000-98565800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:98554000-98570200	Weak transcription	Primary B cells from cord blood	blood
9	chr2:98554200-98563000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:98554400-98565400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:98558400-98562000	Weak transcription	Fetal Intestine Large	intestine
12	chr2:98559400-98562000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:98559600-98560200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:98559800-98567800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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