Variant report

Variant	rs56377603
Chromosome Location	chr22:33391513-33391514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33387629..33389228-chr22:33390616..33392277,2	MCF-7	breast:
2	chr22:33385978..33389779-chr22:33390514..33394605,9	MCF-7	breast:
3	chr22:33196518..33199215-chr22:33391329..33394427,4	MCF-7	breast:
4	22:32920308-32927723..22:33389304-33403028	K562	blood:
5	chr22:33196410..33199341-chr22:33390721..33395867,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction
ENSG00000100234	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]
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]
rs73162044	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33382400-33392400	Weak transcription	Lung	lung
2	chr22:33382400-33404200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr22:33383600-33393200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:33383800-33392200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr22:33383800-33395800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:33384000-33396200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:33384800-33394600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr22:33386200-33397000	Enhancers	Placenta	Placenta
9	chr22:33386600-33393600	Enhancers	Fetal Muscle Leg	muscle
10	chr22:33387400-33391600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:33387400-33391600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr22:33387400-33391600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:33387600-33391600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:33387600-33391600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:33388000-33392800	Weak transcription	Brain Hippocampus Middle	brain
16	chr22:33388200-33396600	Weak transcription	Brain Substantia Nigra	brain
17	chr22:33388200-33396600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr22:33388200-33400000	Weak transcription	Brain Angular Gyrus	brain
19	chr22:33388400-33401000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr22:33389200-33391800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr22:33389200-33392000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:33389600-33391600	Enhancers	Fetal Stomach	stomach
23	chr22:33389600-33396600	Weak transcription	Brain Anterior Caudate	brain
24	chr22:33389800-33391600	Enhancers	Fetal Lung	lung
25	chr22:33389800-33391600	Enhancers	Fetal Muscle Trunk	muscle
26	chr22:33389800-33391800	Enhancers	Fetal Heart	heart
27	chr22:33389800-33393600	Enhancers	Hela-S3	cervix
28	chr22:33390200-33391600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr22:33390400-33391600	Enhancers	HepG2	liver
30	chr22:33390800-33392000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr22:33390800-33396200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr22:33390800-33399800	Weak transcription	Fetal Brain Female	brain
33	chr22:33391000-33392000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr22:33391000-33393400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr22:33391000-33395800	Weak transcription	Brain Germinal Matrix	brain
36	chr22:33391000-33396400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:33391200-33392000	Weak transcription	Spleen	Spleen
38	chr22:33391200-33392200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr22:33391200-33392200	Weak transcription	Adipose Nuclei	Adipose
40	chr22:33391200-33392200	Weak transcription	Right Atrium	heart
41	chr22:33391200-33392200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr22:33391200-33392400	Weak transcription	Esophagus	oesophagus
43	chr22:33391200-33392800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr22:33391200-33392800	Weak transcription	Left Ventricle	heart
45	chr22:33391200-33395400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr22:33391200-33395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr22:33391200-33395800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr22:33391200-33396400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:33391200-33396400	Weak transcription	Fetal Brain Male	brain
50	chr22:33391400-33391800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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