Variant report

Variant	rs5752848
Chromosome Location	chr22:29395410-29395411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29395298..29397330-chr22:29401566..29403212,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11912198	0.96[ASN][1000 genomes]
rs5752850	0.86[ASN][1000 genomes]
rs5762922	0.88[ASN][1000 genomes]
rs5762923	0.89[ASN][1000 genomes]
rs5762926	0.86[ASN][1000 genomes]
rs5762928	0.89[ASN][1000 genomes]
rs5762929	0.88[ASN][1000 genomes]
rs5762930	0.96[ASN][1000 genomes]
rs5762931	0.86[ASN][1000 genomes]
rs5762932	0.83[ASN][1000 genomes]
rs5762938	0.86[ASN][1000 genomes]
rs5762944	1.00[ASN][1000 genomes]
rs7287755	0.98[ASN][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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29373600-29400200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr22:29374600-29395600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr22:29374600-29400000	Weak transcription	Right Ventricle	heart
4	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr22:29379600-29400800	Weak transcription	Fetal Brain Female	brain
6	chr22:29380800-29400800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:29381000-29395600	Weak transcription	Esophagus	oesophagus
8	chr22:29381200-29400400	Weak transcription	Lung	lung
9	chr22:29382000-29400200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr22:29383400-29400200	Weak transcription	Right Atrium	heart
11	chr22:29383600-29400400	Weak transcription	Aorta	Aorta
12	chr22:29383800-29399800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr22:29383800-29400000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr22:29384600-29395600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:29385000-29395600	Weak transcription	A549	lung
16	chr22:29385600-29400800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:29385600-29401000	Weak transcription	Colon Smooth Muscle	Colon
18	chr22:29385800-29397800	Weak transcription	Fetal Lung	lung
19	chr22:29386000-29395600	Weak transcription	Osteobl	bone
20	chr22:29386200-29395600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:29386200-29400000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr22:29386400-29395800	Weak transcription	HMEC	breast
23	chr22:29386800-29395600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr22:29388600-29400400	Weak transcription	Placenta	Placenta
25	chr22:29388800-29399200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr22:29388800-29400200	Weak transcription	Brain Germinal Matrix	brain
27	chr22:29388800-29400800	Weak transcription	Gastric	stomach
28	chr22:29389000-29395600	Weak transcription	HSMM	muscle
29	chr22:29389000-29400000	Weak transcription	Brain Substantia Nigra	brain
30	chr22:29389200-29400000	Weak transcription	Brain Hippocampus Middle	brain
31	chr22:29389400-29395600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:29389400-29399800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:29389400-29400000	Weak transcription	Liver	Liver
34	chr22:29389600-29397800	Weak transcription	Fetal Heart	heart
35	chr22:29389600-29398000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr22:29389600-29398200	Weak transcription	HSMMtube	muscle
37	chr22:29389600-29399800	Weak transcription	Brain Angular Gyrus	brain
38	chr22:29389800-29398000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr22:29389800-29399600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr22:29389800-29400000	Weak transcription	Fetal Intestine Large	intestine
41	chr22:29390000-29400000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:29390000-29400000	Weak transcription	Fetal Intestine Small	intestine
43	chr22:29390000-29400000	Weak transcription	Fetal Stomach	stomach
44	chr22:29392200-29397000	Genic enhancers	HepG2	liver
45	chr22:29393600-29395600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:29393600-29395600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr22:29393600-29395600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr22:29394600-29397000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr22:29394800-29395800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr22:29394800-29396000	Enhancers	Pancreas	Pancrea

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