Variant report

Variant	rs5762928
Chromosome Location	chr22:29372720-29372721
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11912198	0.80[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs5752840	0.90[JPT][hapmap]
rs5752848	0.89[ASN][1000 genomes]
rs5752850	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs5762883	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs5762922	0.98[ASN][1000 genomes]
rs5762923	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs5762926	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs5762929	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs5762930	0.80[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs5762931	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs5762932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs5762938	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs5762944	0.89[ASN][1000 genomes]
rs7287755	0.80[CHB][hapmap];0.91[JPT][hapmap];0.88[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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29350000-29372800	Weak transcription	Aorta	Aorta
2	chr22:29355400-29372800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr22:29359600-29373000	Weak transcription	Fetal Intestine Large	intestine
4	chr22:29361600-29373000	Weak transcription	Fetal Intestine Small	intestine
5	chr22:29361600-29373000	Weak transcription	Ovary	ovary
6	chr22:29365600-29373600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr22:29365800-29373400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:29365800-29373600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
10	chr22:29366000-29373000	Weak transcription	Esophagus	oesophagus
11	chr22:29366000-29373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:29366000-29374400	Weak transcription	Lung	lung
13	chr22:29366000-29375400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:29366000-29379000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr22:29366200-29373000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:29369400-29374400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr22:29369600-29372800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr22:29369600-29378800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr22:29370600-29373000	Enhancers	HepG2	liver
20	chr22:29371600-29373000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr22:29371800-29372800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:29371800-29372800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:29371800-29372800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr22:29371800-29372800	Enhancers	A549	lung
25	chr22:29371800-29372800	Enhancers	HSMM	muscle
26	chr22:29371800-29372800	Enhancers	NH-A	brain
27	chr22:29371800-29373000	Enhancers	HMEC	breast
28	chr22:29371800-29373000	Enhancers	NHEK	skin
29	chr22:29371800-29373200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr22:29371800-29373200	Enhancers	Brain Anterior Caudate	brain
31	chr22:29371800-29373200	Enhancers	Psoas Muscle	Psoas
32	chr22:29371800-29373600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:29371800-29373800	Enhancers	Brain Hippocampus Middle	brain
34	chr22:29371800-29374400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr22:29371800-29374400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr22:29371800-29374600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr22:29371800-29375000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:29371800-29375600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr22:29371800-29375800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr22:29371800-29375800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:29371800-29376000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:29372000-29372800	Enhancers	NHDF-Ad	bronchial
43	chr22:29372000-29373000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr22:29372000-29373400	Enhancers	Liver	Liver
45	chr22:29372000-29373400	Enhancers	Hela-S3	cervix
46	chr22:29372000-29373600	Enhancers	Brain Cingulate Gyrus	brain
47	chr22:29372000-29373600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr22:29372000-29374400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr22:29372000-29374600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr22:29372000-29374600	Enhancers	Brain Inferior Temporal Lobe	brain

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