Variant report

Variant	rs16985986
Chromosome Location	chr22:28495174-28495175
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10483144	0.93[AFR][1000 genomes]
rs16985901	0.86[AFR][1000 genomes]
rs16985904	0.92[AFR][1000 genomes]
rs16985919	0.93[AFR][1000 genomes]
rs16985921	0.93[AFR][1000 genomes]
rs16986023	0.89[AFR][1000 genomes]
rs16986030	0.89[AFR][1000 genomes]
rs16986041	0.96[AFR][1000 genomes]
rs16986116	0.96[AFR][1000 genomes]
rs16986128	0.82[AFR][1000 genomes]
rs16986193	0.82[AFR][1000 genomes]
rs16986219	0.82[AFR][1000 genomes]
rs16986231	0.82[AFR][1000 genomes]
rs16986246	0.82[AFR][1000 genomes]
rs16986249	0.82[AFR][1000 genomes]
rs16986259	0.82[AFR][1000 genomes]
rs16986349	0.82[AFR][1000 genomes]
rs2092498	0.89[AFR][1000 genomes]
rs2103601	0.82[AFR][1000 genomes]
rs57133747	0.81[AFR][1000 genomes]
rs58534561	0.92[AFR][1000 genomes]
rs58713460	0.82[AFR][1000 genomes]
rs60811750	0.82[AFR][1000 genomes]
rs61317772	0.96[AFR][1000 genomes]
rs61739502	0.92[AFR][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28466600-28503600	Weak transcription	Hela-S3	cervix
2	chr22:28472000-28499000	Weak transcription	NHDF-Ad	bronchial
3	chr22:28472200-28498600	Weak transcription	Colon Smooth Muscle	Colon
4	chr22:28472800-28495400	Weak transcription	Pancreas	Pancrea
5	chr22:28472800-28501000	Weak transcription	Gastric	stomach
6	chr22:28483600-28500000	Weak transcription	Spleen	Spleen
7	chr22:28485800-28501400	Strong transcription	Dnd41	blood
8	chr22:28485800-28508600	Weak transcription	Brain Substantia Nigra	brain
9	chr22:28486000-28507200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:28486200-28504400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:28486200-28504800	Weak transcription	Osteobl	bone
12	chr22:28486400-28508600	Weak transcription	Psoas Muscle	Psoas
13	chr22:28486600-28498400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr22:28486600-28499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:28486600-28499400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr22:28486800-28498600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr22:28487000-28496800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:28487400-28495200	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr22:28487400-28497000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr22:28487400-28501200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr22:28487600-28504400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr22:28487800-28505000	Weak transcription	Colonic Mucosa	Colon
24	chr22:28488200-28499400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:28488800-28501000	Weak transcription	Brain Hippocampus Middle	brain
26	chr22:28489000-28499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:28489000-28508200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr22:28489600-28500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:28489800-28508400	Weak transcription	Small Intestine	intestine
30	chr22:28490200-28496600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:28490400-28498600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:28490400-28499200	Strong transcription	Fetal Muscle Leg	muscle
33	chr22:28490400-28499400	Weak transcription	HSMM	muscle
34	chr22:28490400-28499400	Weak transcription	HSMMtube	muscle
35	chr22:28490600-28499400	Weak transcription	Fetal Heart	heart
36	chr22:28490600-28504400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:28490800-28499200	Weak transcription	Esophagus	oesophagus
38	chr22:28491200-28503000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr22:28491600-28502000	Strong transcription	Fetal Intestine Large	intestine
40	chr22:28491800-28496800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr22:28491800-28497600	Strong transcription	Ovary	ovary
42	chr22:28491800-28499200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr22:28492000-28498000	Strong transcription	Aorta	Aorta
44	chr22:28492200-28497600	Strong transcription	Lung	lung
45	chr22:28492200-28499000	Weak transcription	Placenta	Placenta
46	chr22:28492400-28497000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr22:28492600-28496600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr22:28492600-28503200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:28492800-28501400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr22:28493400-28497600	Strong transcription	Adipose Nuclei	Adipose

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