Variant report

Variant	rs762907
Chromosome Location	chr22:32930263-32930264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32929615-32930670	HepG2	liver:	n/a	n/a
2	HEY1	chr22:32929756-32930731	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:32929685-32930738	HepG2	liver:	n/a	n/a
4	YY1	chr22:32930149-32930724	HepG2	liver:	n/a	n/a
5	POLR2A	chr22:32929876-32930702	HepG2	liver:	n/a	n/a
6	CHD2	chr22:32930193-32930817	HepG2	liver:	n/a	n/a
7	HEY1	chr22:32930126-32930670	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32927409..32931156-chr22:32954969..32961432,7	MCF-7	breast:
2	chr22:32922025..32930472-chr22:33196157..33204507,15	MCF-7	breast:
3	chr22:32928149..32930709-chr22:33046752..33049031,2	MCF-7	breast:
4	chr22:32927446..32930330-chr22:32933647..32935342,2	MCF-7	breast:
5	chr22:32928103..32930722-chr22:32934980..32936586,2	MCF-7	breast:
6	chr22:32928792..32930842-chr22:32975300..32976843,2	MCF-7	breast:

No data

Variant related genes	Relation type
SYN3	TF binding region
ENSG00000100234	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13055961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2710373	0.83[CHB][hapmap]
rs2710376	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs4507	0.81[CHB][hapmap]
rs4821072	0.83[ASN][1000 genomes]
rs5749458	0.83[ASN][1000 genomes]
rs5754135	0.83[CHB][hapmap];0.91[YRI][hapmap];0.83[ASN][1000 genomes]
rs5754136	0.83[ASN][1000 genomes]
rs5754141	0.83[CHB][hapmap];0.91[YRI][hapmap];0.83[ASN][1000 genomes]
rs5754143	1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[ASN][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs762907	PLA2G3	cis	parietal	SCAN
rs762907	CABP7	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32914400-32932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:32923600-32931400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:32924200-32932200	Enhancers	Placenta	Placenta
4	chr22:32924600-32932000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr22:32924600-32932800	Enhancers	Fetal Muscle Leg	muscle
6	chr22:32924800-32931000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr22:32924800-32931200	Enhancers	Fetal Lung	lung
8	chr22:32924800-32931200	Enhancers	NHDF-Ad	bronchial
9	chr22:32924800-32932200	Enhancers	Fetal Stomach	stomach
10	chr22:32925200-32931000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr22:32925600-32930600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr22:32926800-32930800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr22:32926800-32932200	Enhancers	Left Ventricle	heart
14	chr22:32927000-32931000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:32927200-32930800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:32927200-32931000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr22:32927200-32931000	Enhancers	Osteobl	bone
18	chr22:32927400-32930400	Enhancers	Colon Smooth Muscle	Colon
19	chr22:32927400-32930400	Flanking Active TSS	HepG2	liver
20	chr22:32927400-32931000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:32927600-32931800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:32927800-32932200	Enhancers	Right Ventricle	heart
23	chr22:32928000-32930800	Enhancers	Colonic Mucosa	Colon
24	chr22:32928000-32930800	Enhancers	Lung	lung
25	chr22:32928000-32930800	Enhancers	NH-A	brain
26	chr22:32928000-32931000	Enhancers	Pancreas	Pancrea
27	chr22:32928000-32931200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:32928000-32932200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr22:32928400-32930400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:32928400-32934400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr22:32928400-32935800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr22:32928400-32935800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr22:32928400-32937600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr22:32928600-32931200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:32928600-32931400	Enhancers	NHLF	lung
36	chr22:32928600-32931600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr22:32928600-32931600	Enhancers	Fetal Muscle Trunk	muscle
38	chr22:32928600-32931800	Enhancers	Adipose Nuclei	Adipose
39	chr22:32928600-32935600	Weak transcription	Fetal Intestine Large	intestine
40	chr22:32929000-32930600	Weak transcription	Gastric	stomach
41	chr22:32929000-32931400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr22:32929000-32940800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:32929200-32930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:32929200-32931200	Enhancers	HSMMtube	muscle
45	chr22:32929200-32931600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr22:32929200-32931800	Enhancers	Hela-S3	cervix
47	chr22:32929400-32931000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr22:32929400-32932000	Weak transcription	Esophagus	oesophagus
49	chr22:32929600-32930400	Enhancers	Brain Anterior Caudate	brain
50	chr22:32929600-32930800	Enhancers	Brain Substantia Nigra	brain

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