Variant report

Variant	rs9621482
Chromosome Location	chr22:32927711-32927712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr22:32927422-32927747	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

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	chr22:32924838..32926991-chr22:32927023..32929946,3	MCF-7	breast:
4	22:32920308-32927723..22:33208968-33216036	H1-hESC	embryonic stem cell:	embryo
5	chr22:32927409..32931156-chr22:32954969..32961432,7	MCF-7	breast:
6	chr22:32922025..32930472-chr22:33196157..33204507,15	MCF-7	breast:
7	22:32920308-32927723..22:33253287-33262063	Hela-S3	cervix:
8	chr22:32926204..32927722-chr22:32933778..32935343,2	MCF-7	breast:
9	chr22:32927446..32930330-chr22:32933647..32935342,2	MCF-7	breast:
10	chr22:32926743..32929840-chr6:24682818..24685708,4	K562	blood:
11	chr22:32927008..32929585-chr6:24687196..24690090,2	K562	blood:
12	chr22:32926848..32928451-chr22:32942229..32944126,2	MCF-7	breast:

No data

Variant related genes	Relation type
SYN3	TF binding region
ENSG00000100234	Chromatin interaction
ENSG00000197047	Chromatin interaction
ENSG00000183531	Chromatin interaction
ENSG00000229673	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000112304	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12165523	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710360	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2710361	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2710372	1.00[EUR][1000 genomes]
rs2710374	1.00[EUR][1000 genomes]
rs2858340	1.00[EUR][1000 genomes]
rs2858341	1.00[EUR][1000 genomes]
rs2858342	1.00[EUR][1000 genomes]
rs9621479	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs9621480	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:78 , 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	chr22:32914200-32928000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr22:32914400-32928200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr22:32914400-32932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:32920200-32928000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr22:32923600-32931400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:32924200-32932200	Enhancers	Placenta	Placenta
8	chr22:32924400-32930200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr22:32924600-32932000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr22:32924600-32932800	Enhancers	Fetal Muscle Leg	muscle
11	chr22:32924800-32928000	Enhancers	Adipose Nuclei	Adipose
12	chr22:32924800-32931000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr22:32924800-32931200	Enhancers	Fetal Lung	lung
14	chr22:32924800-32931200	Enhancers	NHDF-Ad	bronchial
15	chr22:32924800-32932200	Enhancers	Fetal Stomach	stomach
16	chr22:32925000-32927800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:32925200-32931000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr22:32925400-32928000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:32925400-32928000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:32925400-32928000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:32925400-32928000	Weak transcription	K562	blood
22	chr22:32925400-32928000	Weak transcription	NH-A	brain
23	chr22:32925600-32928000	Weak transcription	Brain Angular Gyrus	brain
24	chr22:32925600-32928200	Enhancers	Hela-S3	cervix
25	chr22:32925600-32929600	Weak transcription	Brain Substantia Nigra	brain
26	chr22:32925600-32930600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr22:32925800-32928000	Enhancers	Fetal Muscle Trunk	muscle
28	chr22:32925800-32928000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr22:32925800-32928200	Weak transcription	Esophagus	oesophagus
30	chr22:32925800-32929600	Weak transcription	Liver	Liver
31	chr22:32925800-32929600	Weak transcription	Brain Anterior Caudate	brain
32	chr22:32926000-32927800	Weak transcription	Fetal Intestine Large	intestine
33	chr22:32926200-32927800	Weak transcription	Fetal Intestine Small	intestine
34	chr22:32926200-32928000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:32926200-32928000	Weak transcription	Brain Hippocampus Middle	brain
36	chr22:32926200-32928000	Weak transcription	Lung	lung
37	chr22:32926200-32928000	Weak transcription	Pancreas	Pancrea
38	chr22:32926400-32927800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr22:32926400-32928000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr22:32926400-32928000	Weak transcription	Small Intestine	intestine
41	chr22:32926400-32928200	Enhancers	Stomach Smooth Muscle	stomach
42	chr22:32926400-32928400	Weak transcription	Psoas Muscle	Psoas
43	chr22:32926600-32928000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr22:32926600-32928000	Weak transcription	Colonic Mucosa	Colon
45	chr22:32926600-32928000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr22:32926800-32930800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr22:32926800-32932200	Enhancers	Left Ventricle	heart
48	chr22:32927000-32928600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr22:32927000-32931000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr22:32927200-32928000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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