Variant report

Variant	rs1144866
Chromosome Location	chr1:45588646-45588647
allele	A/C
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: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11211075	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11211077	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11211080	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1143726	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1143727	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144867	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144870	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144871	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1152017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1152018	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1152020	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1152022	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11585488	0.86[EUR][1000 genomes]
rs11588448	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1226722	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1226723	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1226727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1226728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1226736	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1226740	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1226749	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1226911	0.85[AMR][1000 genomes]
rs1226912	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12750360	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16832411	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1698295	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1938302	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1938406	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2211644	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2356304	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2883902	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2997400	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2997462	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3009973	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3009976	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3009978	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3121731	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3121770	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3128437	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3128443	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6429558	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6698681	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6700502	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6702389	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68139854	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517524	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7528468	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7548075	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7552211	0.85[AMR][1000 genomes];0.97[EUR][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:21 , 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	chr1:45588000-45589800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr1:45588000-45590000	Enhancers	Primary T cells from cord blood	blood
8	chr1:45588000-45591200	Enhancers	HepG2	liver
9	chr1:45588200-45588800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:45588200-45588800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr1:45588200-45588800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:45588200-45589000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:45588200-45589400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:45588200-45589800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:45588400-45588800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:45588400-45588800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:45588400-45588800	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:45588400-45588800	Enhancers	Fetal Thymus	thymus
19	chr1:45588400-45589400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:45588400-45589800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr1:45588600-45589200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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