Variant report

Variant	rs73162048
Chromosome Location	chr22:33397045-33397046
allele	C/T
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	chr22:33396499..33397341-chr22:33445248..33445776,2	MCF-7	breast:
3	chr22:32870406..32871047-chr22:33396231..33397141,2	MCF-7	breast:
4	chr22:33396628..33397150-chr22:33599244..33599757,2	MCF-7	breast:
5	22:32920308-32927723..22:33389304-33403028	K562	blood:
6	chr22:33196677..33197366-chr22:33396432..33397359,2	MCF-7	breast:
7	chr22:33322513..33323289-chr22:33396386..33397179,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction
ENSG00000100225	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs137551	1.00[AMR][1000 genomes]
rs137553	1.00[AMR][1000 genomes]
rs241875	1.00[AMR][1000 genomes]
rs55676703	1.00[AMR][1000 genomes]
rs55718026	1.00[AMR][1000 genomes]
rs55756736	1.00[AMR][1000 genomes]
rs55793030	1.00[AMR][1000 genomes]
rs55828224	1.00[AMR][1000 genomes]
rs55893006	1.00[AMR][1000 genomes]
rs56151696	1.00[AMR][1000 genomes]
rs56220039	1.00[AMR][1000 genomes]
rs56235324	1.00[AMR][1000 genomes]
rs56249635	1.00[AMR][1000 genomes]
rs56373657	1.00[AMR][1000 genomes]
rs56377603	1.00[AMR][1000 genomes]
rs73162009	1.00[AMR][1000 genomes]
rs73162011	1.00[AMR][1000 genomes]
rs73162012	1.00[AMR][1000 genomes]
rs73162016	1.00[AMR][1000 genomes]
rs73162022	1.00[AMR][1000 genomes]
rs73162023	1.00[AMR][1000 genomes]
rs73162031	1.00[AMR][1000 genomes]
rs73162035	1.00[AMR][1000 genomes]
rs73162036	1.00[AMR][1000 genomes]
rs73162038	1.00[AMR][1000 genomes]
rs73162044	1.00[AMR][1000 genomes]
rs73162046	1.00[AMR][1000 genomes]
rs73162047	1.00[AMR][1000 genomes]
rs73162050	1.00[AMR][1000 genomes]
rs73162053	1.00[AMR][1000 genomes]
rs73162057	1.00[AMR][1000 genomes]
rs73162059	1.00[AMR][1000 genomes]
rs73162062	1.00[AMR][1000 genomes]
rs73162063	1.00[AMR][1000 genomes]
rs73162065	1.00[AMR][1000 genomes]
rs73162069	1.00[AMR][1000 genomes]
rs73162072	1.00[AMR][1000 genomes]
rs73162073	1.00[AMR][1000 genomes]
rs73162074	1.00[AMR][1000 genomes]
rs73162075	1.00[AMR][1000 genomes]
rs73162076	1.00[AMR][1000 genomes]
rs73162077	1.00[AMR][1000 genomes]
rs73162081	1.00[AMR][1000 genomes]
rs73162084	1.00[AMR][1000 genomes]
rs73162087	1.00[AMR][1000 genomes]
rs73162092	1.00[AMR][1000 genomes]
rs73162094	1.00[AMR][1000 genomes]
rs73162095	1.00[AMR][1000 genomes]
rs73162096	1.00[AMR][1000 genomes]
rs73162097	1.00[AMR][1000 genomes]
rs73162098	1.00[AMR][1000 genomes]
rs73164309	1.00[AMR][1000 genomes]
rs80694	1.00[AMR][1000 genomes]

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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33382400-33404200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr22:33388200-33400000	Weak transcription	Brain Angular Gyrus	brain
3	chr22:33388400-33401000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr22:33390800-33399800	Weak transcription	Fetal Brain Female	brain
5	chr22:33391600-33399800	Weak transcription	HepG2	liver
6	chr22:33391800-33398400	Enhancers	HMEC	breast
7	chr22:33393000-33398400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr22:33393400-33399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:33395000-33397200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr22:33395000-33398200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:33395000-33398800	Enhancers	NHEK	skin
12	chr22:33395000-33399000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:33395200-33397200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:33395400-33397200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr22:33395800-33397200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr22:33395800-33397200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr22:33395800-33397200	Enhancers	Fetal Stomach	stomach
18	chr22:33395800-33397400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr22:33396200-33397600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr22:33396400-33397200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr22:33396400-33397200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr22:33396400-33397200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:33396400-33397200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr22:33396400-33398400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:33396600-33397200	Enhancers	Primary B cells from peripheral blood	blood
26	chr22:33396600-33397200	Enhancers	Brain Anterior Caudate	brain
27	chr22:33396600-33397200	Enhancers	Brain Substantia Nigra	brain
28	chr22:33396600-33397600	Weak transcription	Hela-S3	cervix
29	chr22:33396600-33399800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:33396800-33397200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr22:33396800-33397400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr22:33396800-33397600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
33	chr22:33396800-33399800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr22:33396800-33399800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr22:33396800-33399800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr22:33396800-33401800	Weak transcription	Brain Hippocampus Middle	brain
37	chr22:33397000-33399800	Weak transcription	Brain Germinal Matrix	brain

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