Variant report

Variant	rs135152
Chromosome Location	chr22:33185597-33185598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32920308-32927723..22:33178968-33185617	Hela-S3	cervix:
2	22:32170492-32188129..22:33178968-33185617	Hela-S3	cervix:
3	22:32868055-32872511..22:33178968-33185617	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000100225	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs242082	0.83[YRI][hapmap]
rs5754290	0.88[CHB][hapmap]
rs80268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619311	0.87[MEX][hapmap];0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061384	chr22:33165464-33191811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs135152	DRG1	cis	parietal	SCAN
rs135152	MTMR3	cis	parietal	SCAN
rs135152	PISD	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33176800-33191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr22:33176800-33196600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr22:33177400-33192800	Weak transcription	Pancreas	Pancrea
4	chr22:33179800-33186200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr22:33182000-33192800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr22:33182600-33195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:33183200-33187600	Enhancers	HepG2	liver
8	chr22:33184400-33186000	Enhancers	Adipose Nuclei	Adipose
9	chr22:33184600-33185600	Enhancers	Fetal Stomach	stomach
10	chr22:33184600-33185600	Enhancers	Rectal Smooth Muscle	rectum
11	chr22:33184600-33186000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr22:33184600-33186000	Enhancers	HSMMtube	muscle
13	chr22:33184600-33186200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:33184600-33186200	Enhancers	Osteobl	bone
15	chr22:33184800-33185600	Enhancers	Fetal Heart	heart
16	chr22:33184800-33185600	Enhancers	Fetal Muscle Leg	muscle
17	chr22:33184800-33185800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:33184800-33185800	Enhancers	HMEC	breast
19	chr22:33184800-33185800	Enhancers	NHDF-Ad	bronchial
20	chr22:33184800-33186000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:33184800-33186000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr22:33184800-33186000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr22:33184800-33186000	Enhancers	Fetal Lung	lung
24	chr22:33184800-33186000	Enhancers	Placenta	Placenta
25	chr22:33184800-33186000	Enhancers	HSMM	muscle
26	chr22:33185000-33185600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:33185000-33185600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr22:33185000-33185800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr22:33185000-33185800	Enhancers	NH-A	brain
30	chr22:33185000-33186200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr22:33185200-33185600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr22:33185200-33185600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr22:33185200-33190200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr22:33185200-33190600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr22:33185200-33192600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr22:33185200-33192600	Weak transcription	Right Atrium	heart
37	chr22:33185200-33192800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr22:33185200-33197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:33185400-33185600	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr22:33185400-33186200	Enhancers	Stomach Smooth Muscle	stomach
41	chr22:33185400-33191400	Weak transcription	Right Ventricle	heart

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