Variant report

Variant	rs132283
Chromosome Location	chr22:29544833-29544834
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	chr22:29544270..29547165-chr22:29570652..29572572,2	K562	blood:

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

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

rs_ID	r²[population]
rs132281	0.90[EUR][1000 genomes]
rs132286	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs132294	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs132295	0.80[EUR][1000 genomes]
rs469981	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs469982	0.93[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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv817986	chr22:29540297-29568963	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29517200-29546200	Strong transcription	Dnd41	blood
3	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach
4	chr22:29526200-29547000	Weak transcription	K562	blood
5	chr22:29527600-29548000	Strong transcription	Fetal Intestine Small	intestine
6	chr22:29529400-29547000	Strong transcription	Thymus	Thymus
7	chr22:29530800-29546800	Genic enhancers	Fetal Muscle Leg	muscle
8	chr22:29531600-29548400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:29533000-29545600	Strong transcription	Fetal Intestine Large	intestine
10	chr22:29534800-29545600	Weak transcription	Aorta	Aorta
11	chr22:29536600-29548200	Weak transcription	Fetal Kidney	kidney
12	chr22:29537200-29548200	Weak transcription	Fetal Brain Male	brain
13	chr22:29537400-29545800	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr22:29538200-29545600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:29538400-29547400	Weak transcription	Pancreas	Pancrea
16	chr22:29538400-29548200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:29538800-29548000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr22:29539400-29546000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr22:29539400-29546200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:29540000-29548000	Weak transcription	Colon Smooth Muscle	Colon
21	chr22:29540400-29548000	Weak transcription	Lung	lung
22	chr22:29541000-29545600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:29541000-29545600	Weak transcription	Colonic Mucosa	Colon
24	chr22:29541000-29548200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr22:29541200-29548000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr22:29541600-29545800	Weak transcription	Brain Germinal Matrix	brain
27	chr22:29542000-29545600	Weak transcription	Right Ventricle	heart
28	chr22:29542000-29548200	Weak transcription	NHDF-Ad	bronchial
29	chr22:29542000-29550400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:29542200-29545400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:29542200-29545400	Weak transcription	Spleen	Spleen
32	chr22:29542200-29546000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:29542200-29546000	Weak transcription	HSMMtube	muscle
34	chr22:29542200-29550600	Weak transcription	Gastric	stomach
35	chr22:29542400-29545400	Weak transcription	HepG2	liver
36	chr22:29542400-29545600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:29542400-29546000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr22:29542400-29547000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr22:29542400-29547200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr22:29542600-29545600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:29542600-29545800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr22:29542600-29545800	Weak transcription	Adipose Nuclei	Adipose
43	chr22:29542600-29546000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr22:29542600-29546800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr22:29542800-29545800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr22:29543400-29550200	Weak transcription	Liver	Liver
47	chr22:29543600-29545600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:29543600-29545600	Weak transcription	Left Ventricle	heart
49	chr22:29543600-29546200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:29543600-29548200	Weak transcription	Fetal Brain Female	brain

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