Variant report

Variant	rs73162044
Chromosome Location	chr22:33395968-33395969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33386658..33389072-chr22:33395353..33398273,2	MCF-7	breast:
2	22:32920308-32927723..22:33389304-33403028	K562	blood:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs137551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs137553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs183588	1.00[EUR][1000 genomes]
rs241875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55676703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55718026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55756736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55793030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55828224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55893006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56070943	1.00[EUR][1000 genomes]
rs56151696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56220039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56235324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56249635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56373657	1.00[AMR][1000 genomes]
rs56377603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73158330	1.00[EUR][1000 genomes]
rs73158350	1.00[EUR][1000 genomes]
rs73162009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162048	1.00[AMR][1000 genomes]
rs73162050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162088	1.00[EUR][1000 genomes]
rs73162092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162096	1.00[AMR][1000 genomes]
rs73162097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164309	1.00[AMR][1000 genomes]
rs73164336	1.00[EUR][1000 genomes]
rs80694	1.00[AMR][1000 genomes];1.00[EUR][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:51 , 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	chr22:33384000-33396200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:33386200-33397000	Enhancers	Placenta	Placenta
4	chr22:33388200-33396600	Weak transcription	Brain Substantia Nigra	brain
5	chr22:33388200-33396600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr22:33388200-33400000	Weak transcription	Brain Angular Gyrus	brain
7	chr22:33388400-33401000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr22:33389600-33396600	Weak transcription	Brain Anterior Caudate	brain
9	chr22:33390800-33396200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:33390800-33399800	Weak transcription	Fetal Brain Female	brain
11	chr22:33391000-33396400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:33391200-33396400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:33391200-33396400	Weak transcription	Fetal Brain Male	brain
14	chr22:33391600-33396400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:33391600-33396400	Weak transcription	Fetal Lung	lung
16	chr22:33391600-33399800	Weak transcription	HepG2	liver
17	chr22:33391800-33398400	Enhancers	HMEC	breast
18	chr22:33393000-33396400	Weak transcription	Fetal Heart	heart
19	chr22:33393000-33398400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr22:33393400-33396400	Weak transcription	Lung	lung
21	chr22:33393400-33396600	Weak transcription	Adipose Nuclei	Adipose
22	chr22:33393400-33399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr22:33395000-33396600	Enhancers	Hela-S3	cervix
24	chr22:33395000-33397200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:33395000-33398200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:33395000-33398800	Enhancers	NHEK	skin
27	chr22:33395000-33399000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:33395200-33396200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr22:33395200-33396200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr22:33395200-33396400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr22:33395200-33397200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr22:33395400-33396000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr22:33395400-33396800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr22:33395400-33396800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:33395400-33397000	Enhancers	Fetal Muscle Trunk	muscle
36	chr22:33395400-33397200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr22:33395600-33396600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:33395600-33396800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:33395600-33397000	Enhancers	Fetal Muscle Leg	muscle
40	chr22:33395800-33396000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:33395800-33396000	Enhancers	Brain Hippocampus Middle	brain
42	chr22:33395800-33396400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr22:33395800-33396400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
44	chr22:33395800-33396600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr22:33395800-33396800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr22:33395800-33396800	Enhancers	Fetal Thymus	thymus
47	chr22:33395800-33397000	Enhancers	Brain Germinal Matrix	brain
48	chr22:33395800-33397200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr22:33395800-33397200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr22:33395800-33397200	Enhancers	Fetal Stomach	stomach

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