Variant report

Variant	rs16986197
Chromosome Location	chr22:28644717-28644718
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	chr22:28643886..28646105-chr22:28647458..28649434,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13054508	1.00[CEU][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes]
rs13056121	0.91[EUR][1000 genomes]
rs13056319	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs13056425	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs13057182	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs13057685	0.83[EUR][1000 genomes]
rs13057692	0.86[EUR][1000 genomes]
rs13058473	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs13058493	0.85[YRI][hapmap];0.91[AMR][1000 genomes]
rs2142917	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34176007	0.91[EUR][1000 genomes]
rs34262300	0.97[EUR][1000 genomes]
rs34453094	0.97[EUR][1000 genomes]
rs34783791	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs34925495	0.91[EUR][1000 genomes]
rs34962554	0.97[EUR][1000 genomes]
rs35051985	0.97[EUR][1000 genomes]
rs35738822	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35812775	0.97[EUR][1000 genomes]
rs71325275	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs71325276	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs71325290	0.86[EUR][1000 genomes]
rs7286202	1.00[CEU][hapmap]
rs8142398	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]

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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
2	chr22:28635600-28650800	Weak transcription	Dnd41	blood
3	chr22:28639400-28645800	Enhancers	Fetal Heart	heart
4	chr22:28640800-28646200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:28641000-28645600	Weak transcription	Aorta	Aorta
6	chr22:28641000-28646800	Weak transcription	Small Intestine	intestine
7	chr22:28641000-28655800	Weak transcription	Fetal Kidney	kidney
8	chr22:28641200-28648400	Weak transcription	Fetal Brain Male	brain
9	chr22:28641600-28645000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:28642000-28648200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr22:28642400-28646800	Enhancers	K562	blood
12	chr22:28642400-28649400	Weak transcription	Fetal Intestine Large	intestine
13	chr22:28642800-28645000	Enhancers	Brain Anterior Caudate	brain
14	chr22:28642800-28647400	Weak transcription	HepG2	liver
15	chr22:28643000-28645200	Enhancers	Brain Hippocampus Middle	brain
16	chr22:28643200-28644800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr22:28643200-28645200	Weak transcription	HSMM	muscle
18	chr22:28643200-28646200	Weak transcription	Primary T cells from cord blood	blood
19	chr22:28643400-28646400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:28643400-28649400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr22:28643400-28651800	Weak transcription	HSMMtube	muscle
22	chr22:28643600-28644800	Weak transcription	Adipose Nuclei	Adipose
23	chr22:28643600-28645600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:28643600-28646400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr22:28643600-28652400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr22:28643600-28652600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:28643800-28645600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:28644000-28644800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr22:28644000-28645600	Weak transcription	NH-A	brain
30	chr22:28644000-28645800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:28644000-28646000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr22:28644000-28653200	Weak transcription	NHLF	lung
33	chr22:28644200-28644800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr22:28644200-28645200	Enhancers	Stomach Mucosa	stomach
35	chr22:28644200-28645400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:28644200-28645600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:28644200-28645600	Weak transcription	Osteobl	bone
38	chr22:28644200-28648400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr22:28644200-28648600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr22:28644200-28652600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:28644200-28656600	Weak transcription	Left Ventricle	heart
42	chr22:28644200-28661400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr22:28644400-28645400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:28644400-28645600	Weak transcription	Right Atrium	heart
45	chr22:28644400-28645600	Weak transcription	Right Ventricle	heart
46	chr22:28644400-28649400	Weak transcription	Gastric	stomach
47	chr22:28644400-28652600	Weak transcription	Fetal Lung	lung
48	chr22:28644400-28652600	Weak transcription	Fetal Muscle Leg	muscle
49	chr22:28644400-28652600	Weak transcription	Fetal Stomach	stomach
50	chr22:28644400-28662400	Weak transcription	Psoas Muscle	Psoas

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