Variant report

Variant	rs56249635
Chromosome Location	chr22:33382141-33382142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33322359..33323282-chr22:33381715..33382626,8	MCF-7	breast:
2	chr22:33297947..33298491-chr22:33381980..33382560,2	MCF-7	breast:
3	chr22:32924882..32925575-chr22:33381738..33382642,2	MCF-7	breast:

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]
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]
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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33348000-33382400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
3	chr22:33376200-33382400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:33380200-33382200	Enhancers	Stomach Smooth Muscle	stomach
5	chr22:33380400-33383600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr22:33380400-33384000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:33380800-33383200	Enhancers	Fetal Heart	heart
8	chr22:33380800-33389200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:33381000-33382400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:33381000-33382400	Enhancers	Esophagus	oesophagus
11	chr22:33381000-33383600	Enhancers	Fetal Lung	lung
12	chr22:33381000-33383800	Enhancers	Fetal Stomach	stomach
13	chr22:33381000-33385400	Enhancers	NHEK	skin
14	chr22:33381200-33382200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:33381200-33382400	Enhancers	Lung	lung
16	chr22:33381200-33382600	Enhancers	Rectal Smooth Muscle	rectum
17	chr22:33381200-33383800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr22:33381400-33385200	Enhancers	Fetal Muscle Leg	muscle
19	chr22:33381400-33385400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr22:33381600-33382400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr22:33381600-33382400	Enhancers	Fetal Intestine Large	intestine
22	chr22:33381600-33382600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:33381600-33382600	Enhancers	Right Ventricle	heart
24	chr22:33381600-33383400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr22:33381600-33383600	Enhancers	Fetal Intestine Small	intestine
26	chr22:33381600-33383600	Enhancers	Fetal Muscle Trunk	muscle
27	chr22:33381600-33383800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:33381600-33384000	Enhancers	Placenta	Placenta
29	chr22:33381800-33382200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr22:33381800-33382200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr22:33381800-33382200	Enhancers	K562	blood
32	chr22:33381800-33382400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:33381800-33382400	Enhancers	Primary hematopoietic stem cells	blood
34	chr22:33381800-33382400	Enhancers	Liver	Liver
35	chr22:33381800-33382400	Enhancers	Left Ventricle	heart
36	chr22:33381800-33382400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr22:33381800-33382400	Enhancers	HepG2	liver
38	chr22:33381800-33382600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr22:33381800-33382600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr22:33381800-33382600	Enhancers	Brain Angular Gyrus	brain
41	chr22:33381800-33382600	Enhancers	Brain Substantia Nigra	brain
42	chr22:33381800-33382600	Enhancers	Spleen	Spleen
43	chr22:33381800-33382800	Enhancers	Adipose Nuclei	Adipose
44	chr22:33381800-33383200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr22:33381800-33383400	Enhancers	Fetal Kidney	kidney
46	chr22:33381800-33383600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr22:33381800-33383600	Enhancers	Brain Hippocampus Middle	brain
48	chr22:33381800-33383600	Enhancers	Fetal Brain Male	brain
49	chr22:33381800-33383600	Enhancers	Hela-S3	cervix
50	chr22:33381800-33383800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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