Variant report

Variant	rs5762992
Chromosome Location	chr22:29515179-29515180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs134656	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs134667	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs134674	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2157394	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4330194	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4330195	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4820795	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4823011	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4823012	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4823013	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4823014	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5752867	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5752868	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5762994	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs739210	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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:63 , 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	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
3	chr22:29488400-29521200	Weak transcription	Lung	lung
4	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
5	chr22:29491200-29521200	Weak transcription	Colonic Mucosa	Colon
6	chr22:29491600-29522200	Weak transcription	Liver	Liver
7	chr22:29493200-29521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr22:29493200-29521200	Weak transcription	Pancreas	Pancrea
9	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr22:29493400-29516400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr22:29495200-29516600	Weak transcription	Esophagus	oesophagus
12	chr22:29504800-29521800	Weak transcription	NHEK	skin
13	chr22:29505000-29521000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:29505800-29533000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr22:29506000-29521000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr22:29506400-29516200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:29506400-29516400	Weak transcription	Adipose Nuclei	Adipose
18	chr22:29506400-29516400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr22:29506400-29520000	Weak transcription	Fetal Thymus	thymus
20	chr22:29506400-29521000	Weak transcription	Right Ventricle	heart
21	chr22:29506400-29522200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:29506400-29522400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr22:29507000-29520200	Weak transcription	Thymus	Thymus
24	chr22:29508200-29537200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr22:29509400-29524400	Weak transcription	NHDF-Ad	bronchial
26	chr22:29509400-29525000	Weak transcription	Osteobl	bone
27	chr22:29509800-29516400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:29510000-29516200	Weak transcription	Brain Angular Gyrus	brain
29	chr22:29510000-29516400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr22:29510000-29519800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr22:29510000-29525400	Weak transcription	Brain Anterior Caudate	brain
32	chr22:29510000-29528200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:29510000-29530800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr22:29510000-29531000	Weak transcription	Brain Hippocampus Middle	brain
35	chr22:29510200-29521000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr22:29510200-29531000	Weak transcription	Brain Substantia Nigra	brain
37	chr22:29512400-29516600	Weak transcription	Ovary	ovary
38	chr22:29512400-29522200	Weak transcription	Small Intestine	intestine
39	chr22:29512600-29519800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr22:29512600-29533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr22:29513200-29516400	Weak transcription	Fetal Kidney	kidney
42	chr22:29513800-29516400	Weak transcription	Fetal Stomach	stomach
43	chr22:29514200-29521200	Weak transcription	Left Ventricle	heart
44	chr22:29514200-29521400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr22:29514200-29522200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr22:29514400-29515800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr22:29514400-29516400	Weak transcription	Aorta	Aorta
48	chr22:29514400-29517200	Weak transcription	Dnd41	blood
49	chr22:29514400-29517200	Weak transcription	HepG2	liver
50	chr22:29514400-29532800	Weak transcription	Gastric	stomach

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