Variant report

Variant	rs56105022
Chromosome Location	chr1:224544746-224544747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224369887..224372532-chr1:224544188..224545968,2	K562	blood:
2	chr1:224516510..224520785-chr1:224542312..224545237,4	MCF-7	breast:
3	chr1:224543721..224546086-chr1:224562908..224565121,2	MCF-7	breast:
4	chr1:224543329..224547108-chr1:224619239..224622996,5	MCF-7	breast:
5	chr1:224544325..224548164-chr1:224620481..224623704,4	K562	blood:
6	chr1:224514132..224518075-chr1:224542843..224545822,3	K562	blood:
7	chr1:224515424..224519366-chr1:224544067..224546170,3	K562	blood:

Variant related genes	Relation type
ENSG00000143748	Chromatin interaction
ENSG00000143771	Chromatin interaction
ENSG00000143786	Chromatin interaction
ENSG00000143753	Chromatin interaction
ENSG00000162923	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12117480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12126765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12126815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12128376	1.00[AFR][1000 genomes]
rs12133599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45583539	1.00[AFR][1000 genomes];1.00[AMR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224544000-224546400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:224544200-224545000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
3	chr1:224544200-224545200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr1:224544200-224545200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:224544200-224545200	Active TSS	Duodenum Mucosa	Duodenum
6	chr1:224544200-224545200	Active TSS	HepG2	liver
7	chr1:224544200-224545400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:224544200-224545400	Active TSS	Adipose Nuclei	Adipose
9	chr1:224544200-224545400	Active TSS	Brain Hippocampus Middle	brain
10	chr1:224544200-224545400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr1:224544200-224545400	Active TSS	Thymus	Thymus
12	chr1:224544200-224545600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:224544200-224545600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:224544200-224545600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:224544200-224545600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:224544200-224545600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:224544200-224545600	Active TSS	Brain Anterior Caudate	brain
18	chr1:224544200-224545600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:224544200-224545600	Active TSS	Fetal Brain Female	brain
20	chr1:224544200-224545600	Active TSS	Fetal Kidney	kidney
21	chr1:224544200-224545600	Active TSS	Psoas Muscle	Psoas
22	chr1:224544200-224545600	Active TSS	GM12878-XiMat	blood
23	chr1:224544200-224545600	Active TSS	HMEC	breast
24	chr1:224544200-224545600	Active TSS	K562	blood
25	chr1:224544200-224545800	Active TSS	A549	lung
26	chr1:224544200-224546000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:224544400-224544800	Active TSS	Primary B cells from cord blood	blood
28	chr1:224544400-224544800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:224544400-224544800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:224544400-224545000	Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr1:224544400-224545000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:224544400-224545000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:224544400-224545000	Active TSS	Placenta	Placenta
34	chr1:224544400-224545000	Transcr. at gene 5' and 3'	Right Atrium	heart
35	chr1:224544400-224545200	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr1:224544400-224545200	Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr1:224544400-224545200	Active TSS	Primary B cells from peripheral blood	blood
38	chr1:224544400-224545200	Active TSS	Primary T cells from cord blood	blood
39	chr1:224544400-224545200	Active TSS	Primary T cells fromperipheralblood	blood
40	chr1:224544400-224545200	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr1:224544400-224545200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:224544400-224545200	Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr1:224544400-224545200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:224544400-224545200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:224544400-224545200	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr1:224544400-224545200	Active TSS	Liver	Liver
47	chr1:224544400-224545200	Active TSS	Fetal Thymus	thymus
48	chr1:224544400-224545200	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr1:224544400-224545200	Active TSS	Dnd41	blood
50	chr1:224544400-224545200	Active TSS	Monocytes-CD14+_RO01746	blood

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