Variant report

Variant	rs56046690
Chromosome Location	chr1:159037027-159037028
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	chr1:159036460..159038313-chr1:159045367..159047993,3	K562	blood:

Variant related genes	Relation type
ENSG00000163568	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs41264141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41264447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55762293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55783705	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55940565	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56077216	0.82[EUR][1000 genomes]
rs56208680	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56387666	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56390355	0.86[EUR][1000 genomes]
rs61533256	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62621173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72704983	0.89[AMR][1000 genomes]
rs72704986	0.94[AMR][1000 genomes]
rs72704995	0.94[AMR][1000 genomes]
rs72709516	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72709518	1.00[AMR][1000 genomes]
rs72709521	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709522	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709523	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709525	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709526	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709528	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709530	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709532	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709533	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709535	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709548	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709549	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709553	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709557	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709567	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709568	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709569	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709570	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709573	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72709576	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709578	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709580	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709586	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72709587	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72709590	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72709591	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs855869	0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159022800-159037400	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr1:159025200-159037600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:159025200-159038200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:159025400-159037400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:159025400-159037800	Weak transcription	NHDF-Ad	bronchial
6	chr1:159025400-159038200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:159026000-159037200	Weak transcription	Adipose Nuclei	Adipose
8	chr1:159026200-159037200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:159026200-159037200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:159026200-159037600	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:159026200-159037600	Weak transcription	NHEK	skin
12	chr1:159026200-159037800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:159026200-159038000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:159026200-159038600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:159026400-159037200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:159026400-159037200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:159026400-159037200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:159026400-159037400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:159026400-159037600	Weak transcription	Dnd41	blood
20	chr1:159026800-159037200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:159026800-159038000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:159027000-159037200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:159027000-159037800	Weak transcription	Thymus	Thymus
24	chr1:159027000-159038000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:159027200-159037200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:159027200-159037200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:159027200-159037800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:159027200-159038200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:159027400-159037200	Weak transcription	Primary T cells from cord blood	blood
30	chr1:159027400-159037200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:159028400-159037200	Weak transcription	Esophagus	oesophagus
32	chr1:159028400-159037200	Weak transcription	Fetal Thymus	thymus
33	chr1:159028800-159037600	Weak transcription	Spleen	Spleen
34	chr1:159034200-159038400	Enhancers	Primary B cells from cord blood	blood
35	chr1:159035800-159039000	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:159036200-159039000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:159036200-159041800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr1:159036400-159037200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:159036400-159037200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:159036400-159037600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:159036400-159037800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:159036600-159037200	Enhancers	GM12878-XiMat	blood
43	chr1:159037000-159037600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr1:159037000-159037600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr1:159037000-159039000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr1:159037000-159039200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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