Variant report

Variant	rs16987010
Chromosome Location	chr22:28741491-28741492
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	chr22:28737276..28738868-chr22:28739288..28741604,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs134190	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs134195	1.00[CHB][hapmap]
rs135654	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs16986280	1.00[CHB][hapmap]
rs16986442	0.91[CHB][hapmap]
rs16986489	0.91[CHB][hapmap];0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28736000-28744200	Weak transcription	Lung	lung
2	chr22:28736400-28746600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:28737200-28742200	Weak transcription	Fetal Brain Female	brain
4	chr22:28737200-28742600	Weak transcription	Dnd41	blood
5	chr22:28737200-28747200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr22:28737400-28744000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:28737800-28744800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr22:28738000-28751600	Weak transcription	Left Ventricle	heart
9	chr22:28738800-28744200	Weak transcription	Fetal Brain Male	brain
10	chr22:28739600-28741600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:28739600-28741800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:28739600-28741800	Enhancers	HMEC	breast
13	chr22:28739600-28741800	Enhancers	NHEK	skin
14	chr22:28740200-28741600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr22:28740200-28742400	Enhancers	Colon Smooth Muscle	Colon
16	chr22:28740200-28743000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr22:28740400-28741600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr22:28740600-28741600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr22:28740600-28741800	Enhancers	Osteobl	bone
20	chr22:28740800-28741600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:28740800-28741600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:28740800-28741600	Enhancers	HSMM	muscle
23	chr22:28740800-28741600	Flanking Active TSS	NHDF-Ad	bronchial
24	chr22:28740800-28741800	Enhancers	Fetal Lung	lung
25	chr22:28740800-28741800	Enhancers	NHLF	lung
26	chr22:28740800-28742800	Enhancers	HSMMtube	muscle
27	chr22:28741000-28741600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr22:28741000-28741800	Enhancers	Rectal Smooth Muscle	rectum
29	chr22:28741000-28742200	Weak transcription	Fetal Heart	heart
30	chr22:28741200-28742000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:28741200-28742800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr22:28741400-28741600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:28741400-28741600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr22:28741400-28741600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:28741400-28741600	Enhancers	Brain Germinal Matrix	brain
36	chr22:28741400-28741600	Enhancers	Fetal Muscle Leg	muscle
37	chr22:28741400-28741600	Enhancers	Fetal Stomach	stomach
38	chr22:28741400-28741600	Flanking Active TSS	Ovary	ovary
39	chr22:28741400-28741600	Enhancers	Psoas Muscle	Psoas
40	chr22:28741400-28741600	Enhancers	Right Ventricle	heart
41	chr22:28741400-28741800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr22:28741400-28742800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr22:28741400-28744000	Weak transcription	Brain Hippocampus Middle	brain

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