Variant report

Variant	rs73882456
Chromosome Location	chr22:29471245-29471246
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29191243..29192935-chr22:29470969..29473140,2	MCF-7	breast:
2	chr22:29296014..29298873-chr22:29469784..29471423,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs73882457	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882458	0.94[AFR][1000 genomes]
rs73882463	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882464	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882467	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882468	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882473	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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524259	chr22:29467221-29482221	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29468600-29471400	Active TSS	Fetal Kidney	kidney
2	chr22:29469400-29471400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
3	chr22:29469800-29471400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr22:29469800-29471400	Flanking Active TSS	Thymus	Thymus
5	chr22:29469800-29474200	Weak transcription	K562	blood
6	chr22:29470000-29474000	Weak transcription	HSMMtube	muscle
7	chr22:29470000-29477600	Weak transcription	Aorta	Aorta
8	chr22:29470200-29471400	Enhancers	Right Ventricle	heart
9	chr22:29470400-29471400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr22:29470400-29471600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:29470400-29474800	Weak transcription	Lung	lung
12	chr22:29470400-29474800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr22:29470400-29475000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:29470400-29475400	Weak transcription	Brain Angular Gyrus	brain
15	chr22:29470400-29476400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:29470400-29485800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr22:29470600-29471400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr22:29470600-29471600	Flanking Active TSS	Dnd41	blood
19	chr22:29470600-29471800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:29470600-29472200	Enhancers	HepG2	liver
21	chr22:29470600-29474000	Weak transcription	Spleen	Spleen
22	chr22:29470600-29474400	Weak transcription	Brain Hippocampus Middle	brain
23	chr22:29470600-29474800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr22:29470600-29474800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr22:29470600-29474800	Weak transcription	Left Ventricle	heart
26	chr22:29470600-29474800	Weak transcription	Stomach Mucosa	stomach
27	chr22:29470600-29475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:29470600-29475000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr22:29470600-29475200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:29470600-29475200	Weak transcription	Adipose Nuclei	Adipose
31	chr22:29470600-29475200	Weak transcription	Colon Smooth Muscle	Colon
32	chr22:29470600-29475400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:29470600-29476200	Weak transcription	Psoas Muscle	Psoas
34	chr22:29470600-29478400	Weak transcription	Gastric	stomach
35	chr22:29470600-29478400	Weak transcription	Pancreas	Pancrea
36	chr22:29470800-29471400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:29470800-29471400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr22:29470800-29471400	Enhancers	Colonic Mucosa	Colon
39	chr22:29470800-29471400	Weak transcription	Fetal Intestine Small	intestine
40	chr22:29470800-29472200	Enhancers	NHDF-Ad	bronchial
41	chr22:29470800-29472400	Enhancers	Fetal Intestine Large	intestine
42	chr22:29470800-29474800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr22:29470800-29474800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr22:29470800-29475000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:29470800-29475200	Weak transcription	Fetal Stomach	stomach
46	chr22:29470800-29475400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr22:29470800-29475600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr22:29470800-29476200	Weak transcription	Liver	Liver
49	chr22:29471000-29471400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:29471000-29471400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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