Variant report

Variant	rs409082
Chromosome Location	chr1:45588531-45588532
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45569785..45572164-chr1:45588128..45590653,3	K562	blood:
2	chr1:45569785..45571943-chr1:45588128..45590653,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1152028	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1226732	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1226750	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1612575	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173208	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1969084	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995403	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2105460	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346685	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346686	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346688	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346689	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346692	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346703	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346704	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346709	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346710	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346711	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346718	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346720	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346725	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346726	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346735	0.91[AFR][1000 genomes]
rs412055	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4415614	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660835	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55826381	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55842174	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55884892	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57805650	0.84[ASN][1000 genomes]
rs59432881	0.86[AMR][1000 genomes]
rs60506423	0.91[EUR][1000 genomes]
rs61574129	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6429556	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6693885	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72684406	0.86[AMR][1000 genomes]
rs72684412	0.91[AMR][1000 genomes]
rs72684416	0.86[AMR][1000 genomes]
rs72684425	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72684426	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72684447	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684454	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684481	0.98[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684482	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684485	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684487	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684488	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684496	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72684499	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686404	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686415	0.91[EUR][1000 genomes]
rs72686418	0.91[EUR][1000 genomes]
rs72686419	0.91[EUR][1000 genomes]
rs72686420	0.91[EUR][1000 genomes]
rs72686421	0.91[EUR][1000 genomes]
rs72686423	0.91[EUR][1000 genomes]
rs7543211	0.86[AMR][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	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:45568200-45594600	Weak transcription	Right Atrium	heart
2	chr1:45587400-45589600	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr1:45587800-45588800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:45587800-45589400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:45587800-45589800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr1:45588000-45588600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:45588000-45588600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:45588000-45589800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:45588000-45590000	Enhancers	Primary T cells from cord blood	blood
10	chr1:45588000-45591200	Enhancers	HepG2	liver
11	chr1:45588200-45588600	Enhancers	Brain Hippocampus Middle	brain
12	chr1:45588200-45588600	Enhancers	Brain Substantia Nigra	brain
13	chr1:45588200-45588800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:45588200-45588800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr1:45588200-45588800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:45588200-45589000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:45588200-45589400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:45588200-45589800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:45588400-45588800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:45588400-45588800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:45588400-45588800	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:45588400-45588800	Enhancers	Fetal Thymus	thymus
23	chr1:45588400-45589400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:45588400-45589800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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