Variant report

Variant	rs28373783
Chromosome Location	chr22:33019320-33019321
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	chr22:33016718..33020351-chr22:33021844..33025503,4	K562	blood:
2	chr22:33015941..33022634-chr22:33022783..33027992,6	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12166424	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs13340088	0.82[AMR][1000 genomes]
rs13340089	0.82[AMR][1000 genomes]
rs16990867	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55742512	0.88[EUR][1000 genomes]
rs55771461	0.82[AMR][1000 genomes]
rs55904255	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56315097	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58007110	0.82[AMR][1000 genomes]
rs58659637	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7284915	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7290002	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7290248	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7291390	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7291935	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs73881763	0.94[EUR][1000 genomes]
rs73881769	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881771	1.00[EUR][1000 genomes]
rs9619279	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9619282	0.82[AMR][1000 genomes]
rs9621511	0.82[AMR][1000 genomes]
rs9621512	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33014200-33022200	Weak transcription	Small Intestine	intestine
2	chr22:33014400-33019800	Weak transcription	Brain Angular Gyrus	brain
3	chr22:33015000-33019800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr22:33016000-33020000	Weak transcription	Liver	Liver
5	chr22:33017000-33019600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:33017000-33020200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:33017000-33020600	Enhancers	Fetal Kidney	kidney
8	chr22:33017000-33021000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr22:33017000-33021000	Enhancers	Fetal Muscle Leg	muscle
10	chr22:33017000-33021000	Enhancers	Fetal Stomach	stomach
11	chr22:33017000-33022600	Enhancers	Fetal Lung	lung
12	chr22:33017000-33022600	Enhancers	Right Atrium	heart
13	chr22:33017000-33025800	Enhancers	Left Ventricle	heart
14	chr22:33017000-33025800	Enhancers	Spleen	Spleen
15	chr22:33017000-33027200	Enhancers	Placenta	Placenta
16	chr22:33017200-33020600	Enhancers	Colon Smooth Muscle	Colon
17	chr22:33017200-33020800	Enhancers	Ovary	ovary
18	chr22:33017400-33019600	Enhancers	Fetal Intestine Large	intestine
19	chr22:33017400-33020000	Enhancers	Fetal Heart	heart
20	chr22:33017400-33020600	Enhancers	Colonic Mucosa	Colon
21	chr22:33017400-33020600	Enhancers	Right Ventricle	heart
22	chr22:33017400-33020600	Enhancers	NHLF	lung
23	chr22:33017400-33021000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr22:33017600-33019800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:33017600-33020000	Enhancers	Rectal Smooth Muscle	rectum
26	chr22:33017600-33020200	Enhancers	Fetal Intestine Small	intestine
27	chr22:33017600-33020400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr22:33017600-33020400	Enhancers	Brain Hippocampus Middle	brain
29	chr22:33017800-33019400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr22:33017800-33020200	Enhancers	Brain Substantia Nigra	brain
31	chr22:33017800-33020400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:33017800-33020400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr22:33017800-33020400	Enhancers	HSMM	muscle
34	chr22:33017800-33020600	Enhancers	Osteobl	bone
35	chr22:33017800-33020800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:33017800-33022200	Weak transcription	Psoas Muscle	Psoas
37	chr22:33017800-33022200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr22:33018000-33019400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr22:33018000-33019600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr22:33018200-33019400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr22:33018200-33020600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:33018400-33019400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:33018400-33019600	Weak transcription	Aorta	Aorta
44	chr22:33018400-33021000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:33018400-33025800	Enhancers	Adipose Nuclei	Adipose
46	chr22:33018600-33019400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:33018600-33020000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:33018600-33020000	Enhancers	HSMMtube	muscle
49	chr22:33018600-33020400	Enhancers	NH-A	brain
50	chr22:33018600-33020400	Enhancers	NHDF-Ad	bronchial

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