Variant report

Variant	rs9621479
Chromosome Location	chr22:32926653-32926654
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32920308-32927723..22:33178968-33185617	Hela-S3	cervix:
2	22:32920308-32927723..22:33389304-33403028	K562	blood:
3	22:32920308-32927723..22:33208968-33216036	H1-hESC	embryonic stem cell:	embryo
4	chr22:32922025..32930472-chr22:33196157..33204507,15	MCF-7	breast:
5	22:32920308-32927723..22:33253287-33262063	Hela-S3	cervix:
6	chr22:32926204..32927722-chr22:32933778..32935343,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229673	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000197047	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000183531	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12165523	1.00[EUR][1000 genomes]
rs12166091	1.00[EUR][1000 genomes]
rs2710360	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710361	0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710372	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710374	1.00[EUR][1000 genomes]
rs2710379	1.00[AMR][1000 genomes]
rs2858340	1.00[EUR][1000 genomes]
rs2858341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2858342	1.00[EUR][1000 genomes]
rs9621480	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621482	0.80[YRI][hapmap];1.00[EUR][1000 genomes]

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	nsv914981	chr22:32912277-32940660	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32898600-32928000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr22:32898800-32927200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:32914200-32928000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr22:32914400-32928200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr22:32914400-32932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:32916000-32927600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:32920200-32928000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr22:32923600-32931400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:32924200-32932200	Enhancers	Placenta	Placenta
10	chr22:32924400-32930200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr22:32924600-32932000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr22:32924600-32932800	Enhancers	Fetal Muscle Leg	muscle
13	chr22:32924800-32928000	Enhancers	Adipose Nuclei	Adipose
14	chr22:32924800-32931000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr22:32924800-32931200	Enhancers	Fetal Lung	lung
16	chr22:32924800-32931200	Enhancers	NHDF-Ad	bronchial
17	chr22:32924800-32932200	Enhancers	Fetal Stomach	stomach
18	chr22:32925000-32927800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:32925200-32931000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr22:32925400-32927200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr22:32925400-32927200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr22:32925400-32928000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:32925400-32928000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:32925400-32928000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr22:32925400-32928000	Weak transcription	K562	blood
26	chr22:32925400-32928000	Weak transcription	NH-A	brain
27	chr22:32925600-32927200	Weak transcription	Osteobl	bone
28	chr22:32925600-32927400	Weak transcription	Fetal Thymus	thymus
29	chr22:32925600-32927400	Weak transcription	HSMM	muscle
30	chr22:32925600-32927400	Weak transcription	NHLF	lung
31	chr22:32925600-32928000	Weak transcription	Brain Angular Gyrus	brain
32	chr22:32925600-32928200	Enhancers	Hela-S3	cervix
33	chr22:32925600-32929600	Weak transcription	Brain Substantia Nigra	brain
34	chr22:32925600-32930600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr22:32925800-32927000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr22:32925800-32927200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:32925800-32927400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr22:32925800-32927400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr22:32925800-32927400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:32925800-32927400	Enhancers	HepG2	liver
41	chr22:32925800-32928000	Enhancers	Fetal Muscle Trunk	muscle
42	chr22:32925800-32928000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr22:32925800-32928200	Weak transcription	Esophagus	oesophagus
44	chr22:32925800-32929600	Weak transcription	Liver	Liver
45	chr22:32925800-32929600	Weak transcription	Brain Anterior Caudate	brain
46	chr22:32926000-32927200	Weak transcription	Ovary	ovary
47	chr22:32926000-32927600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:32926000-32927800	Weak transcription	Fetal Intestine Large	intestine
49	chr22:32926200-32926800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr22:32926200-32927200	Weak transcription	Right Ventricle	heart

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