Variant report

Variant	rs2133186
Chromosome Location	chr1:222794455-222794456
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222792534..222794480-chr1:222797586..222800158,2	MCF-7	breast:
2	chr1:222760074..222764679-chr1:222790714..222794830,7	K562	blood:
3	chr1:222720437..222722735-chr1:222793339..222795136,2	MCF-7	breast:
4	chr1:222791253..222793444-chr1:222793463..222795812,3	MCF-7	breast:
5	chr1:222713330..222714959-chr1:222794373..222797061,2	MCF-7	breast:
6	chr1:222760723..222765796-chr1:222790714..222795393,9	K562	blood:

Variant related genes	Relation type
ENSG00000154305	Chromatin interaction
ENSG00000143498	Chromatin interaction
ENSG00000143512	Chromatin interaction
ENSG00000225265	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3008609	1.00[ASN][1000 genomes]
rs61824281	1.00[ASN][1000 genomes]
rs61825251	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61825527	1.00[AFR][1000 genomes]
rs904324	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222792400-222816600	Weak transcription	Small Intestine	intestine
2	chr1:222792600-222800000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:222792600-222801400	Weak transcription	Lung	lung
4	chr1:222792600-222802200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:222792600-222802200	Weak transcription	Aorta	Aorta
6	chr1:222792600-222816600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:222792600-222817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:222792800-222794600	Weak transcription	Fetal Thymus	thymus
9	chr1:222792800-222795200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:222792800-222795400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:222792800-222796000	Weak transcription	Brain Germinal Matrix	brain
12	chr1:222792800-222796200	Weak transcription	A549	lung
13	chr1:222792800-222802000	Weak transcription	Colonic Mucosa	Colon
14	chr1:222793000-222794600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:222793000-222794600	Weak transcription	Left Ventricle	heart
16	chr1:222793000-222794800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr1:222793000-222795400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:222793000-222795600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:222793000-222795600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:222793000-222796000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:222793000-222796200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:222793000-222797000	Weak transcription	Fetal Intestine Large	intestine
23	chr1:222793000-222798800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:222793000-222799000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:222793000-222799800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:222793000-222800200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:222793000-222802200	Weak transcription	HSMMtube	muscle
28	chr1:222793200-222794600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:222793200-222794600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:222793200-222794600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:222793200-222794600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:222793200-222794600	Weak transcription	Adipose Nuclei	Adipose
33	chr1:222793200-222794600	Weak transcription	Fetal Stomach	stomach
34	chr1:222793200-222794800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:222793200-222794800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr1:222793200-222794800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:222793200-222794800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:222793200-222794800	Weak transcription	NHDF-Ad	bronchial
39	chr1:222793200-222795200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:222793200-222795200	Weak transcription	Ovary	ovary
41	chr1:222793200-222795200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:222793200-222795400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:222793200-222795400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:222793200-222795400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:222793200-222795400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:222793200-222795400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:222793200-222795400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:222793200-222795400	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:222793200-222795400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:222793200-222795400	Weak transcription	Colon Smooth Muscle	Colon

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