Variant report

Variant	rs5752851
Chromosome Location	chr22:29398459-29398460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10483153	0.90[EUR][1000 genomes]
rs12169126	0.87[ASN][1000 genomes]
rs12627758	0.93[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16986951	0.86[MEX][hapmap];1.00[TSI][hapmap]
rs16986993	0.90[EUR][1000 genomes]
rs1986295	0.90[EUR][1000 genomes]
rs41382448	0.86[MEX][hapmap]
rs4823000	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4823004	0.90[EUR][1000 genomes]
rs5752839	0.92[JPT][hapmap]
rs5752842	0.92[JPT][hapmap]
rs5762891	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs5762893	1.00[JPT][hapmap]
rs5762900	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs5762906	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs5762907	0.92[JPT][hapmap]
rs5762919	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs61697201	0.85[ASN][1000 genomes]
rs725281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7288513	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs7290364	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs8140640	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9306461	1.00[JPT][hapmap]
rs9625645	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs974370	0.93[CHB][hapmap];0.92[JPT][hapmap];0.95[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:77 , 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	chr22:29374600-29400000	Weak transcription	Right Ventricle	heart
3	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr22:29379600-29400800	Weak transcription	Fetal Brain Female	brain
5	chr22:29380800-29400800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr22:29381200-29400400	Weak transcription	Lung	lung
7	chr22:29382000-29400200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr22:29383400-29400200	Weak transcription	Right Atrium	heart
9	chr22:29383600-29400400	Weak transcription	Aorta	Aorta
10	chr22:29383800-29399800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr22:29383800-29400000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr22:29385600-29400800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:29385600-29401000	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:29386200-29400000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr22:29388600-29400400	Weak transcription	Placenta	Placenta
16	chr22:29388800-29399200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr22:29388800-29400200	Weak transcription	Brain Germinal Matrix	brain
18	chr22:29388800-29400800	Weak transcription	Gastric	stomach
19	chr22:29389000-29400000	Weak transcription	Brain Substantia Nigra	brain
20	chr22:29389200-29400000	Weak transcription	Brain Hippocampus Middle	brain
21	chr22:29389400-29399800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:29389400-29400000	Weak transcription	Liver	Liver
23	chr22:29389600-29399800	Weak transcription	Brain Angular Gyrus	brain
24	chr22:29389800-29399600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr22:29389800-29400000	Weak transcription	Fetal Intestine Large	intestine
26	chr22:29390000-29400000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr22:29390000-29400000	Weak transcription	Fetal Intestine Small	intestine
28	chr22:29390000-29400000	Weak transcription	Fetal Stomach	stomach
29	chr22:29395800-29398600	Weak transcription	Left Ventricle	heart
30	chr22:29396000-29398800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:29396000-29399600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:29396000-29400000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:29396000-29400000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr22:29396000-29401400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr22:29396200-29398800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:29396200-29399600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr22:29396200-29399800	Weak transcription	HMEC	breast
38	chr22:29396200-29400000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr22:29396200-29400800	Weak transcription	Adipose Nuclei	Adipose
40	chr22:29396200-29401000	Weak transcription	HSMM	muscle
41	chr22:29396400-29399800	Weak transcription	NHEK	skin
42	chr22:29396400-29400000	Weak transcription	A549	lung
43	chr22:29396800-29399000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr22:29396800-29399600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr22:29396800-29400400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr22:29396800-29400400	Weak transcription	Ovary	ovary
47	chr22:29396800-29400800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:29397000-29398600	Weak transcription	Pancreas	Pancrea
49	chr22:29397000-29398800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr22:29397000-29399600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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