Variant report

Variant	rs878725
Chromosome Location	chr22:29522486-29522487
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	chr22:29517088..29518724-chr22:29521660..29523626,2	K562	blood:

Variant related genes	Relation type
ENSG00000183762	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12157998	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167060	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13056416	0.99[EUR][1000 genomes]
rs17444498	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17451053	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17523074	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17523307	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2007772	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33958791	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34898858	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34920087	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34946378	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35612970	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36020709	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67157227	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs713527	0.92[ASN][1000 genomes]
rs713728	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933244	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
3	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29505800-29533000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:29508200-29537200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:29509400-29524400	Weak transcription	NHDF-Ad	bronchial
7	chr22:29509400-29525000	Weak transcription	Osteobl	bone
8	chr22:29510000-29525400	Weak transcription	Brain Anterior Caudate	brain
9	chr22:29510000-29528200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr22:29510000-29530800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr22:29510000-29531000	Weak transcription	Brain Hippocampus Middle	brain
12	chr22:29510200-29531000	Weak transcription	Brain Substantia Nigra	brain
13	chr22:29512600-29533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr22:29514400-29532800	Weak transcription	Gastric	stomach
15	chr22:29515000-29533000	Weak transcription	Colon Smooth Muscle	Colon
16	chr22:29515600-29533800	Weak transcription	Brain Germinal Matrix	brain
17	chr22:29516600-29531000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:29516800-29523000	Strong transcription	Fetal Lung	lung
19	chr22:29516800-29530800	Weak transcription	Aorta	Aorta
20	chr22:29517200-29546200	Strong transcription	Dnd41	blood
21	chr22:29518400-29535800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:29519400-29523200	Strong transcription	Fetal Muscle Leg	muscle
23	chr22:29519400-29528200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:29519400-29533800	Weak transcription	Fetal Brain Female	brain
25	chr22:29519800-29523000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr22:29519800-29523400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:29520000-29523000	Strong transcription	Fetal Thymus	thymus
28	chr22:29520000-29526800	Strong transcription	Fetal Stomach	stomach
29	chr22:29520000-29528400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr22:29520200-29523800	Strong transcription	Thymus	Thymus
31	chr22:29520600-29534200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr22:29520800-29522600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr22:29520800-29525000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr22:29521000-29522600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr22:29521000-29522600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr22:29521000-29522800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr22:29521000-29523600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:29521000-29524600	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr22:29521200-29522600	Strong transcription	Left Ventricle	heart
40	chr22:29521400-29522600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr22:29521400-29525000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:29521400-29526800	Strong transcription	Ovary	ovary
43	chr22:29521400-29530600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr22:29521400-29533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr22:29521600-29524200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr22:29521600-29525000	Weak transcription	Lung	lung
47	chr22:29521800-29522800	Strong transcription	Brain Angular Gyrus	brain
48	chr22:29521800-29523000	Strong transcription	NHEK	skin
49	chr22:29521800-29523800	Strong transcription	Placenta	Placenta
50	chr22:29522000-29522600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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