Variant report

Variant	rs4550760
Chromosome Location	chr22:32927850-32927851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr22:32927802-32929035	HepG2	liver:	n/a	n/a
2	ZNF384	chr22:32927819-32928209	K562	blood:	n/a	n/a
3	TEAD4	chr22:32927801-32928653	HepG2	liver:	n/a	n/a
4	FOXA1	chr22:32927842-32928480	HepG2	liver:	n/a	n/a
5	MYBL2	chr22:32927837-32928689	HepG2	liver:	n/a	n/a
6	RAD21	chr22:32927801-32928561	HepG2	liver:	n/a	chr22:32928269-32928278 chr22:32928164-32928177
7	MBD4	chr22:32927779-32928606	HepG2	liver:	n/a	n/a
8	MAZ	chr22:32927826-32929098	IMR90	lung:	n/a	chr22:32928053-32928062 chr22:32928661-32928672
9	POLR2A	chr22:32927828-32928996	HepG2	liver:	n/a	n/a
10	HDAC2	chr22:32927849-32928964	HepG2	liver:	n/a	chr22:32927984-32927998 chr22:32927979-32927993 chr22:32927983-32927997 chr22:32927982-32927996 chr22:32927981-32927995 chr22:32927985-32927999

No.	Distal block	Cell Line	Cell type
1	chr22:32924838..32926991-chr22:32927023..32929946,3	MCF-7	breast:
2	chr22:32927409..32931156-chr22:32954969..32961432,7	MCF-7	breast:
3	chr22:32922025..32930472-chr22:33196157..33204507,15	MCF-7	breast:
4	chr22:32927446..32930330-chr22:32933647..32935342,2	MCF-7	breast:
5	chr22:32926743..32929840-chr6:24682818..24685708,4	K562	blood:
6	chr22:32927008..32929585-chr6:24687196..24690090,2	K562	blood:
7	chr22:32926848..32928451-chr22:32942229..32944126,2	MCF-7	breast:

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs130456	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs130457	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs135479	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2858337	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs5754144	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs762908	1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[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

No data

Chromatin state (count:79 , 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	chr22:32925200-32931000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr22:32925400-32928000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:32925400-32928000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:32925400-32928000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr22:32925400-32928000	Weak transcription	K562	blood
21	chr22:32925400-32928000	Weak transcription	NH-A	brain
22	chr22:32925600-32928000	Weak transcription	Brain Angular Gyrus	brain
23	chr22:32925600-32928200	Enhancers	Hela-S3	cervix
24	chr22:32925600-32929600	Weak transcription	Brain Substantia Nigra	brain
25	chr22:32925600-32930600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr22:32925800-32928000	Enhancers	Fetal Muscle Trunk	muscle
27	chr22:32925800-32928000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr22:32925800-32928200	Weak transcription	Esophagus	oesophagus
29	chr22:32925800-32929600	Weak transcription	Liver	Liver
30	chr22:32925800-32929600	Weak transcription	Brain Anterior Caudate	brain
31	chr22:32926200-32928000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:32926200-32928000	Weak transcription	Brain Hippocampus Middle	brain
33	chr22:32926200-32928000	Weak transcription	Lung	lung
34	chr22:32926200-32928000	Weak transcription	Pancreas	Pancrea
35	chr22:32926400-32928000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr22:32926400-32928000	Weak transcription	Small Intestine	intestine
37	chr22:32926400-32928200	Enhancers	Stomach Smooth Muscle	stomach
38	chr22:32926400-32928400	Weak transcription	Psoas Muscle	Psoas
39	chr22:32926600-32928000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr22:32926600-32928000	Weak transcription	Colonic Mucosa	Colon
41	chr22:32926600-32928000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr22:32926800-32930800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr22:32926800-32932200	Enhancers	Left Ventricle	heart
44	chr22:32927000-32928600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr22:32927000-32931000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr22:32927200-32928000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr22:32927200-32928000	Enhancers	Spleen	Spleen
48	chr22:32927200-32929200	Enhancers	Rectal Smooth Muscle	rectum
49	chr22:32927200-32929800	Enhancers	Ovary	ovary
50	chr22:32927200-32930800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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