Variant report

Variant	rs133939
Chromosome Location	chr22:33396463-33396464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33386658..33389072-chr22:33395353..33398273,2	MCF-7	breast:
2	chr22:32870406..32871047-chr22:33396231..33397141,2	MCF-7	breast:
3	22:32920308-32927723..22:33389304-33403028	K562	blood:
4	chr22:33196677..33197366-chr22:33396432..33397359,2	MCF-7	breast:
5	chr22:33322513..33323289-chr22:33396386..33397179,3	MCF-7	breast:
6	chr22:32924267..32925636-chr22:33396396..33397037,4	MCF-7	breast:
7	chr22:33396422..33396949-chr22:33605944..33606773,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100225	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10483167	1.00[YRI][hapmap]
rs137521	1.00[YRI][hapmap]
rs470005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754429	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33382400-33404200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr22:33386200-33397000	Enhancers	Placenta	Placenta
3	chr22:33388200-33396600	Weak transcription	Brain Substantia Nigra	brain
4	chr22:33388200-33396600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr22:33388200-33400000	Weak transcription	Brain Angular Gyrus	brain
6	chr22:33388400-33401000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr22:33389600-33396600	Weak transcription	Brain Anterior Caudate	brain
8	chr22:33390800-33399800	Weak transcription	Fetal Brain Female	brain
9	chr22:33391600-33399800	Weak transcription	HepG2	liver
10	chr22:33391800-33398400	Enhancers	HMEC	breast
11	chr22:33393000-33398400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr22:33393400-33396600	Weak transcription	Adipose Nuclei	Adipose
13	chr22:33393400-33399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:33395000-33396600	Enhancers	Hela-S3	cervix
15	chr22:33395000-33397200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr22:33395000-33398200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:33395000-33398800	Enhancers	NHEK	skin
18	chr22:33395000-33399000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:33395200-33397200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:33395400-33396800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr22:33395400-33396800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:33395400-33397000	Enhancers	Fetal Muscle Trunk	muscle
23	chr22:33395400-33397200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr22:33395600-33396600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:33395600-33396800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr22:33395600-33397000	Enhancers	Fetal Muscle Leg	muscle
27	chr22:33395800-33396600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr22:33395800-33396800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:33395800-33396800	Enhancers	Fetal Thymus	thymus
30	chr22:33395800-33397000	Enhancers	Brain Germinal Matrix	brain
31	chr22:33395800-33397200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr22:33395800-33397200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr22:33395800-33397200	Enhancers	Fetal Stomach	stomach
34	chr22:33395800-33397400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr22:33396000-33396600	Weak transcription	Brain Hippocampus Middle	brain
36	chr22:33396000-33396800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr22:33396000-33396800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr22:33396200-33396600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr22:33396200-33396600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr22:33396200-33397000	Enhancers	Dnd41	blood
41	chr22:33396200-33397600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr22:33396400-33396600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr22:33396400-33396800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:33396400-33396800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr22:33396400-33396800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr22:33396400-33396800	Enhancers	Primary hematopoietic stem cells	blood
47	chr22:33396400-33396800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr22:33396400-33396800	Enhancers	Fetal Brain Male	brain
49	chr22:33396400-33396800	Enhancers	Fetal Heart	heart
50	chr22:33396400-33396800	Enhancers	Fetal Lung	lung

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