Variant report

Variant	rs134188
Chromosome Location	chr22:28644881-28644882
allele	A/C
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: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1303845	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs134172	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs134179	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134180	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134196	0.96[ASN][1000 genomes]
rs134489	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134500	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2223370	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4822952	0.85[ASN][1000 genomes]
rs715517	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7284814	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8138645	0.81[ASN][1000 genomes]
rs8140229	0.91[EUR][1000 genomes];0.87[ASN][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:53 , 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	chr22:28643200-28645200	Weak transcription	HSMM	muscle
17	chr22:28643200-28646200	Weak transcription	Primary T cells from cord blood	blood
18	chr22:28643400-28646400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:28643400-28649400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr22:28643400-28651800	Weak transcription	HSMMtube	muscle
21	chr22:28643600-28645600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr22:28643600-28646400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr22:28643600-28652400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr22:28643600-28652600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:28643800-28645600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr22:28644000-28645600	Weak transcription	NH-A	brain
27	chr22:28644000-28645800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:28644000-28646000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr22:28644000-28653200	Weak transcription	NHLF	lung
30	chr22:28644200-28645200	Enhancers	Stomach Mucosa	stomach
31	chr22:28644200-28645400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:28644200-28645600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr22:28644200-28645600	Weak transcription	Osteobl	bone
34	chr22:28644200-28648400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr22:28644200-28648600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:28644200-28652600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:28644200-28656600	Weak transcription	Left Ventricle	heart
38	chr22:28644200-28661400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr22:28644400-28645400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr22:28644400-28645600	Weak transcription	Right Atrium	heart
41	chr22:28644400-28645600	Weak transcription	Right Ventricle	heart
42	chr22:28644400-28649400	Weak transcription	Gastric	stomach
43	chr22:28644400-28652600	Weak transcription	Fetal Lung	lung
44	chr22:28644400-28652600	Weak transcription	Fetal Muscle Leg	muscle
45	chr22:28644400-28652600	Weak transcription	Fetal Stomach	stomach
46	chr22:28644400-28662400	Weak transcription	Psoas Muscle	Psoas
47	chr22:28644600-28645000	Enhancers	Duodenum Mucosa	Duodenum
48	chr22:28644600-28645000	Weak transcription	NHDF-Ad	bronchial
49	chr22:28644600-28645200	Enhancers	A549	lung
50	chr22:28644600-28655400	Weak transcription	Brain Substantia Nigra	brain

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