Variant report

Variant	rs9427220
Chromosome Location	chr1:153761750-153761751
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153761143..153764229-chr1:153764516..153767826,3	MCF-7	breast:
2	chr1:153760687..153764431-chr1:153764478..153768131,3	K562	blood:
3	chr1:153754517..153758077-chr1:153759140..153763614,7	K562	blood:
4	chr1:153760904..153763648-chr1:153765238..153768011,3	MCF-7	breast:
5	chr1:153754814..153757464-chr1:153760573..153762227,2	MCF-7	breast:
6	chr1:153753211..153758068-chr1:153759455..153763614,7	K562	blood:
7	chr1:153761470..153763413-chr1:153768542..153770993,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231827	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1127091	0.80[AMR][1000 genomes]
rs12133923	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12738361	0.81[EUR][1000 genomes]
rs61803655	0.81[EUR][1000 genomes]
rs6664419	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6690619	0.84[EUR][1000 genomes]
rs9426935	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011897	chr1:153613597-153836703	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
4	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv464039	chr1:153708906-153801098	Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv547941	chr1:153708906-153801098	Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv817392	chr1:153724807-153870005	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
9	nsv515962	chr1:153752139-153773429	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153756600-153761800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:153756600-153761800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:153756600-153762000	Weak transcription	Brain Angular Gyrus	brain
4	chr1:153756600-153762200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:153756600-153764000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:153756600-153767000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:153756800-153761800	Weak transcription	Primary T cells from cord blood	blood
8	chr1:153756800-153761800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:153756800-153761800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:153756800-153761800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:153756800-153761800	Weak transcription	Adipose Nuclei	Adipose
12	chr1:153756800-153761800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:153756800-153761800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:153756800-153761800	Weak transcription	Fetal Thymus	thymus
15	chr1:153756800-153761800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:153756800-153761800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:153756800-153762000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:153756800-153762000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:153756800-153762000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:153756800-153762000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:153756800-153762000	Weak transcription	Brain Anterior Caudate	brain
22	chr1:153756800-153762000	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:153756800-153762000	Weak transcription	Stomach Mucosa	stomach
24	chr1:153756800-153762000	Weak transcription	Osteobl	bone
25	chr1:153756800-153762200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:153756800-153763200	Weak transcription	K562	blood
27	chr1:153756800-153764200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:153757000-153761800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:153757000-153761800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:153757000-153779200	Weak transcription	Dnd41	blood
31	chr1:153758400-153762600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:153758800-153761800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr1:153760400-153761800	Enhancers	Fetal Lung	lung
34	chr1:153760800-153762600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr1:153760800-153762800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:153761000-153764200	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr1:153761200-153761800	Enhancers	Fetal Stomach	stomach
38	chr1:153761200-153762000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:153761400-153761800	Enhancers	Colon Smooth Muscle	Colon
40	chr1:153761400-153761800	Enhancers	HepG2	liver
41	chr1:153761400-153761800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr1:153761400-153762200	Enhancers	Thymus	Thymus
43	chr1:153761400-153762200	Enhancers	GM12878-XiMat	blood
44	chr1:153761400-153762800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr1:153761400-153762800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:153761400-153763000	Enhancers	Primary B cells from cord blood	blood
47	chr1:153761400-153763200	Enhancers	Liver	Liver
48	chr1:153761600-153761800	Enhancers	Rectal Smooth Muscle	rectum
49	chr1:153761600-153762200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr1:153761600-153762200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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