Variant report

Variant	rs7258718
Chromosome Location	chr19:40460834-40460835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10403646	1.00[AMR][1000 genomes]
rs10427117	1.00[AMR][1000 genomes]
rs234297	0.90[AMR][1000 genomes]
rs234312	0.90[AMR][1000 genomes]
rs234327	0.81[AMR][1000 genomes]
rs2542302	0.90[AMR][1000 genomes]
rs28776318	1.00[AMR][1000 genomes]
rs28832070	1.00[AMR][1000 genomes]
rs61424085	1.00[AMR][1000 genomes]
rs7245930	1.00[AMR][1000 genomes]
rs7250945	1.00[AMR][1000 genomes]
rs7257627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7258111	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73930678	1.00[AMR][1000 genomes]
rs73930679	1.00[AMR][1000 genomes]
rs9783944	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	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS 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 miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40450000-40461200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr19:40450000-40461800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr19:40453000-40466000	Weak transcription	Fetal Intestine Small	intestine
4	chr19:40457400-40475600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr19:40458400-40466400	Enhancers	Primary B cells from peripheral blood	blood
6	chr19:40459000-40461800	Weak transcription	Brain Hippocampus Middle	brain
7	chr19:40459400-40461200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr19:40459400-40461600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr19:40459400-40462200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr19:40459600-40461000	Enhancers	Dnd41	blood
11	chr19:40459600-40461200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr19:40459600-40461400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:40459600-40461600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr19:40459600-40466200	Enhancers	Primary B cells from cord blood	blood
15	chr19:40459800-40462800	Enhancers	Primary T cells from cord blood	blood
16	chr19:40460000-40461400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:40460000-40464800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:40460200-40474800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:40460400-40464800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr19:40460400-40465000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:40460600-40464800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:40460800-40461800	Enhancers	Fetal Thymus	thymus
23	chr19:40460800-40463600	Weak transcription	GM12878-XiMat	blood
24	chr19:40460800-40476000	Weak transcription	Psoas Muscle	Psoas

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