Variant report

Variant	rs72648868
Chromosome Location	chr17:45813896-45813897
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:13)

rs_ID	r²[population]
rs12450008	0.88[EUR][1000 genomes]
rs12451682	0.88[EUR][1000 genomes]
rs12452307	0.88[EUR][1000 genomes]
rs16946878	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17244544	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17250953	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17772855	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17773055	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41407050	0.89[EUR][1000 genomes]
rs72648867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72648869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73988809	0.94[AFR][1000 genomes]
rs73988811	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	nsv2071	chr17:45801503-45844229	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45810400-45814000	Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr17:45810400-45814400	Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr17:45811200-45814600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr17:45811400-45822000	Weak transcription	Right Atrium	heart
5	chr17:45812400-45814800	Flanking Active TSS	GM12878-XiMat	blood
6	chr17:45812400-45815000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:45812600-45814200	Weak transcription	Spleen	Spleen
8	chr17:45813000-45814200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:45813000-45814800	Enhancers	Primary B cells from peripheral blood	blood
10	chr17:45813200-45814200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:45813400-45814000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr17:45813400-45814000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr17:45813600-45814000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr17:45813600-45814200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr17:45813600-45814800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr17:45813800-45814400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr17:45813800-45814800	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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