Variant report

Variant	rs16986420
Chromosome Location	chr22:28827214-28827215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16986354	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16986431	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16986442	0.91[AMR][1000 genomes]
rs16986489	0.82[JPT][hapmap];0.84[MEX][hapmap];0.91[AMR][1000 genomes]
rs16986544	1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28820800-28837400	Weak transcription	HSMMtube	muscle
2	chr22:28821000-28829000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr22:28821400-28831200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr22:28821400-28836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr22:28821600-28828400	Weak transcription	Dnd41	blood
6	chr22:28821600-28829000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:28822200-28837800	Weak transcription	Left Ventricle	heart
8	chr22:28822800-28828800	Weak transcription	Gastric	stomach
9	chr22:28823000-28837000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:28823600-28828800	Weak transcription	Right Ventricle	heart
11	chr22:28825000-28827400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:28825200-28827400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr22:28825400-28827400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:28826600-28827800	Enhancers	Fetal Brain Male	brain
15	chr22:28827000-28831400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr22:28827000-28837000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr22:28827200-28828800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:28827200-28828800	Weak transcription	Fetal Brain Female	brain
19	chr22:28827200-28829000	Weak transcription	Stomach Mucosa	stomach
20	chr22:28827200-28829000	Weak transcription	Osteobl	bone
21	chr22:28827200-28829200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:28827200-28830400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr22:28827200-28830600	Weak transcription	Ovary	ovary
24	chr22:28827200-28830800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr22:28827200-28831200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:28827200-28831200	Weak transcription	Fetal Lung	lung
27	chr22:28827200-28831400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr22:28827200-28831400	Weak transcription	Adipose Nuclei	Adipose
29	chr22:28827200-28831600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:28827200-28831600	Weak transcription	Colon Smooth Muscle	Colon
31	chr22:28827200-28831800	Weak transcription	NHDF-Ad	bronchial
32	chr22:28827200-28832000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:28827200-28833600	Weak transcription	Psoas Muscle	Psoas
34	chr22:28827200-28836200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr22:28827200-28836200	Weak transcription	Brain Germinal Matrix	brain
36	chr22:28827200-28836400	Weak transcription	Brain Anterior Caudate	brain
37	chr22:28827200-28836400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr22:28827200-28837400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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