Variant report

Variant	rs16986023
Chromosome Location	chr22:28512532-28512533
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	chr22:28503418..28506723-chr22:28511705..28514483,3	K562	blood:
2	chr22:28504287..28506723-chr22:28511705..28514349,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10483144	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs16985901	0.90[AFR][1000 genomes]
rs16985904	0.82[AFR][1000 genomes]
rs16985919	0.96[AFR][1000 genomes]
rs16985921	0.96[AFR][1000 genomes]
rs16985986	0.89[AFR][1000 genomes]
rs16986030	1.00[AFR][1000 genomes]
rs16986041	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16986116	0.93[AFR][1000 genomes]
rs16986128	0.93[AFR][1000 genomes]
rs16986168	0.87[AFR][1000 genomes]
rs16986172	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs16986181	0.87[AFR][1000 genomes]
rs16986193	0.93[AFR][1000 genomes]
rs16986219	0.93[AFR][1000 genomes]
rs16986231	0.93[AFR][1000 genomes]
rs16986238	0.87[AFR][1000 genomes]
rs16986240	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs16986246	0.93[AFR][1000 genomes]
rs16986249	0.93[AFR][1000 genomes]
rs16986259	0.93[AFR][1000 genomes]
rs16986349	0.93[AFR][1000 genomes]
rs2092498	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2103601	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs57133747	0.84[AFR][1000 genomes]
rs57301669	0.86[AFR][1000 genomes]
rs58534561	0.82[AFR][1000 genomes]
rs58713460	0.93[AFR][1000 genomes]
rs60811750	0.93[AFR][1000 genomes]
rs61317772	0.93[AFR][1000 genomes]
rs61739502	0.82[AFR][1000 genomes]
rs9625433	1.00[YRI][hapmap]

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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr22:28496600-28517200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr22:28501400-28512600	Weak transcription	Fetal Kidney	kidney
4	chr22:28501600-28517000	Weak transcription	Brain Angular Gyrus	brain
5	chr22:28502000-28515000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr22:28502400-28535800	Weak transcription	Right Ventricle	heart
7	chr22:28504200-28514600	Weak transcription	Brain Germinal Matrix	brain
8	chr22:28504400-28513200	Weak transcription	HepG2	liver
9	chr22:28504400-28516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:28505200-28512800	Weak transcription	Dnd41	blood
11	chr22:28508800-28514800	Weak transcription	Fetal Intestine Small	intestine
12	chr22:28508800-28516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr22:28509000-28512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:28509000-28517200	Weak transcription	Stomach Mucosa	stomach
15	chr22:28509200-28512600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr22:28509200-28514400	Weak transcription	Adipose Nuclei	Adipose
17	chr22:28509200-28514800	Weak transcription	Fetal Brain Female	brain
18	chr22:28509400-28512600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr22:28509400-28516400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr22:28509400-28516800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr22:28509600-28512600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:28509600-28512800	Weak transcription	Right Atrium	heart
23	chr22:28509600-28513200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:28510000-28515200	Weak transcription	Fetal Brain Male	brain
25	chr22:28510600-28512600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr22:28510600-28512600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr22:28510600-28512600	Enhancers	NHEK	skin
28	chr22:28510600-28512800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr22:28510600-28513000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:28510600-28513200	Enhancers	Left Ventricle	heart
31	chr22:28510800-28513200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:28510800-28513600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr22:28510800-28513600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr22:28511000-28512600	Enhancers	HMEC	breast
35	chr22:28511000-28512600	Enhancers	NHDF-Ad	bronchial
36	chr22:28511000-28512600	Enhancers	Osteobl	bone
37	chr22:28511200-28512600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr22:28511200-28512800	Enhancers	HSMM	muscle
39	chr22:28511200-28513600	Enhancers	Colon Smooth Muscle	Colon
40	chr22:28511400-28512600	Enhancers	HSMMtube	muscle
41	chr22:28511400-28512800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr22:28511400-28513600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr22:28511600-28513000	Enhancers	Stomach Smooth Muscle	stomach
44	chr22:28511600-28513200	Enhancers	Rectal Smooth Muscle	rectum
45	chr22:28511600-28513200	Enhancers	NHLF	lung
46	chr22:28511800-28512800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr22:28511800-28513200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr22:28511800-28513400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr22:28511800-28513800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr22:28512000-28512600	Enhancers	Fetal Muscle Trunk	muscle

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