Variant report

Variant	rs184991053
Chromosome Location	chr22:32929321-32929322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32927902-32929525	HepG2	liver:	n/a	n/a
2	BHLHE40	chr22:32927917-32929366	K562	blood:	n/a	chr22:32928807-32928820
3	MXI1	chr22:32928233-32929514	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:32924838..32926991-chr22:32927023..32929946,3	MCF-7	breast:
2	chr22:32928032..32930048-chr6:24682726..24684882,3	MCF-7	breast:
3	chr22:32927409..32931156-chr22:32954969..32961432,7	MCF-7	breast:
4	chr22:32922025..32930472-chr22:33196157..33204507,15	MCF-7	breast:
5	chr22:32928261..32930206-chr22:32941848..32945247,3	MCF-7	breast:
6	chr22:32928149..32930709-chr22:33046752..33049031,2	MCF-7	breast:
7	chr22:32927446..32930330-chr22:32933647..32935342,2	MCF-7	breast:
8	chr22:32928103..32930722-chr22:32934980..32936586,2	MCF-7	breast:
9	chr22:32928085..32929693-chr6:24687618..24690090,2	K562	blood:
10	chr22:32926743..32929840-chr6:24682818..24685708,4	K562	blood:
11	chr22:32928792..32930842-chr22:32975300..32976843,2	MCF-7	breast:
12	chr22:32927008..32929585-chr6:24687196..24690090,2	K562	blood:

No data

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

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3356426	chr22:32928545-32929783	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 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	chr22:32924400-32930200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr22:32924600-32932000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr22:32924600-32932800	Enhancers	Fetal Muscle Leg	muscle
7	chr22:32924800-32931000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr22:32924800-32931200	Enhancers	Fetal Lung	lung
9	chr22:32924800-32931200	Enhancers	NHDF-Ad	bronchial
10	chr22:32924800-32932200	Enhancers	Fetal Stomach	stomach
11	chr22:32925200-32931000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr22:32925600-32929600	Weak transcription	Brain Substantia Nigra	brain
13	chr22:32925600-32930600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr22:32925800-32929600	Weak transcription	Liver	Liver
15	chr22:32925800-32929600	Weak transcription	Brain Anterior Caudate	brain
16	chr22:32926800-32930800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr22:32926800-32932200	Enhancers	Left Ventricle	heart
18	chr22:32927000-32931000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:32927200-32929800	Enhancers	Ovary	ovary
20	chr22:32927200-32930800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:32927200-32931000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr22:32927200-32931000	Enhancers	Osteobl	bone
23	chr22:32927400-32929400	Enhancers	HMEC	breast
24	chr22:32927400-32929400	Enhancers	HSMM	muscle
25	chr22:32927400-32930000	Enhancers	Fetal Heart	heart
26	chr22:32927400-32930200	Enhancers	Right Atrium	heart
27	chr22:32927400-32930400	Enhancers	Colon Smooth Muscle	Colon
28	chr22:32927400-32930400	Flanking Active TSS	HepG2	liver
29	chr22:32927400-32931000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:32927600-32931800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr22:32927800-32930000	Weak transcription	Fetal Kidney	kidney
32	chr22:32927800-32932200	Enhancers	Right Ventricle	heart
33	chr22:32928000-32930800	Enhancers	Colonic Mucosa	Colon
34	chr22:32928000-32930800	Enhancers	Lung	lung
35	chr22:32928000-32930800	Enhancers	NH-A	brain
36	chr22:32928000-32931000	Enhancers	Pancreas	Pancrea
37	chr22:32928000-32931200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:32928000-32932200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr22:32928200-32929400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:32928200-32929400	Enhancers	Esophagus	oesophagus
41	chr22:32928200-32929400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr22:32928400-32929400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr22:32928400-32929400	Enhancers	Psoas Muscle	Psoas
44	chr22:32928400-32929600	Bivalent Enhancer	Stomach Mucosa	stomach
45	chr22:32928400-32929800	Weak transcription	Brain Angular Gyrus	brain
46	chr22:32928400-32929800	Enhancers	Spleen	Spleen
47	chr22:32928400-32930400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:32928400-32934400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr22:32928400-32935800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr22:32928400-32935800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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