Variant report

Variant	rs62232754
Chromosome Location	chr22:33025093-33025094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33016718..33020351-chr22:33021844..33025503,4	K562	blood:
2	chr22:33024320..33026626-chr22:33029132..33033030,5	MCF-7	breast:
3	chr22:32955831..32960274-chr22:33021346..33026373,8	MCF-7	breast:
4	chr22:33015941..33022634-chr22:33022783..33027992,6	MCF-7	breast:
5	chr22:33023061..33025113-chr22:33196015..33199255,3	MCF-7	breast:
6	22:32920308-32927723..22:33024278-33030812	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000251890	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000100234	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16990867	0.80[AFR][1000 genomes]
rs17774399	0.86[EUR][1000 genomes]
rs3788467	0.87[EUR][1000 genomes]
rs55904255	0.80[AFR][1000 genomes]
rs56315097	0.83[AFR][1000 genomes]
rs58659637	0.80[AFR][1000 genomes]
rs60378048	0.84[EUR][1000 genomes]
rs62232746	0.81[EUR][1000 genomes]
rs62232753	0.86[EUR][1000 genomes]
rs7284915	0.83[AFR][1000 genomes]
rs7290002	0.81[AFR][1000 genomes]
rs7290248	0.82[AFR][1000 genomes]
rs7291390	0.83[AFR][1000 genomes]
rs73154348	0.82[EUR][1000 genomes]
rs9621517	0.85[AMR][1000 genomes];0.82[EUR][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	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33017000-33025800	Enhancers	Left Ventricle	heart
2	chr22:33017000-33025800	Enhancers	Spleen	Spleen
3	chr22:33017000-33027200	Enhancers	Placenta	Placenta
4	chr22:33018400-33025800	Enhancers	Adipose Nuclei	Adipose
5	chr22:33019800-33025200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:33020600-33030200	Weak transcription	Colon Smooth Muscle	Colon
7	chr22:33021400-33025800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr22:33021800-33025200	Enhancers	Right Ventricle	heart
9	chr22:33022000-33025800	Enhancers	Fetal Muscle Leg	muscle
10	chr22:33022200-33025800	Enhancers	Fetal Muscle Trunk	muscle
11	chr22:33022200-33027000	Enhancers	Fetal Stomach	stomach
12	chr22:33022600-33025600	Enhancers	Fetal Thymus	thymus
13	chr22:33023200-33025400	Enhancers	Fetal Kidney	kidney
14	chr22:33023400-33025600	Enhancers	Right Atrium	heart
15	chr22:33023400-33025800	Enhancers	NHLF	lung
16	chr22:33023600-33025600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr22:33023600-33025800	Enhancers	Fetal Lung	lung
18	chr22:33023600-33028800	Enhancers	Primary hematopoietic stem cells	blood
19	chr22:33023800-33026400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:33023800-33026600	Weak transcription	Thymus	Thymus
21	chr22:33023800-33026800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr22:33024200-33025200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr22:33024200-33025600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:33024200-33025600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr22:33024200-33025800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:33024200-33025800	Enhancers	Liver	Liver
27	chr22:33024400-33025200	Enhancers	Fetal Intestine Small	intestine
28	chr22:33024400-33025400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:33024400-33025400	Enhancers	K562	blood
30	chr22:33024400-33025600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:33024400-33025600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr22:33024800-33025200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr22:33024800-33025200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:33024800-33025400	Enhancers	Stomach Smooth Muscle	stomach
35	chr22:33024800-33025400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr22:33024800-33025600	Enhancers	Fetal Brain Male	brain
37	chr22:33024800-33025600	Enhancers	Lung	lung
38	chr22:33024800-33025600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr22:33024800-33025600	Flanking Active TSS	HepG2	liver
40	chr22:33024800-33025600	Enhancers	NHDF-Ad	bronchial
41	chr22:33024800-33025800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:33024800-33025800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr22:33025000-33025200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:33025000-33025200	Enhancers	Brain Anterior Caudate	brain
45	chr22:33025000-33025600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr22:33025000-33027200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr22:33025000-33028400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr22:33025000-33028800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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