Variant report

Variant	rs72704930
Chromosome Location	chr1:158921282-158921283
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1102003	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2097593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4512646	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72704921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72704922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72704925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72704929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72704932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72704933	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72704936	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72704937	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72704938	0.82[EUR][1000 genomes]
rs72704943	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72704944	0.88[EUR][1000 genomes]
rs72704945	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72704948	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7525140	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7547305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553715	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs856070	0.82[EUR][1000 genomes]
rs856071	0.81[EUR][1000 genomes]
rs856085	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs856088	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs856090	0.99[EUR][1000 genomes];1.00[ASN][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	nsv1002401	chr1:158712627-158972031	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv872485	chr1:158863845-158922287	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1007597	chr1:158874806-158934301	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3369957	chr1:158915589-159003393	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158905600-158921800	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr1:158905600-158922000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:158905800-158930200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:158909200-158921800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:158911000-158922400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:158913200-158922200	Strong transcription	Primary T cells from cord blood	blood
7	chr1:158913400-158922800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:158913600-158922800	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:158917200-158922800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:158918400-158923400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:158919000-158922000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:158919200-158922200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:158919800-158922000	Weak transcription	Dnd41	blood
14	chr1:158920000-158921800	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:158920000-158922200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:158920000-158923000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:158920400-158921800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:158920600-158950600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:158921000-158922000	Enhancers	Primary B cells from cord blood	blood

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