Variant report

Variant	rs73802854
Chromosome Location	chr4:22518450-22518451
allele	C/G
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	POLR2A	chr4:22516558-22518511	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr4:22515695-22520041	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr4:22516532-22518483	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr4:22518449-22518753	HepG2	liver:	n/a	n/a
5	POLR2A	chr4:22515612-22519946	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:22515945-22519288	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr4:22515405-22518591	SK-N-SH	brain:	n/a	n/a
8	MYC	chr4:22518031-22518553	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:93347439..93348346-chr4:22517806..22518476,2	Hela-S3	cervix:

Variant related genes	Relation type
GPR125	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56281913	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58212965	0.88[EUR][1000 genomes]
rs60908827	0.84[EUR][1000 genomes]
rs73802855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7684229	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3375345	chr4:22516479-22519027	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3410356	chr4:22516604-22518702	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22515800-22518800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr4:22516000-22518600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:22516800-22518600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr4:22517000-22518600	Active TSS	Fetal Brain Female	brain
5	chr4:22517200-22519000	Active TSS	Primary hematopoietic stem cells	blood
6	chr4:22518000-22518600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:22518000-22518800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr4:22518000-22519600	Weak transcription	Small Intestine	intestine
9	chr4:22518200-22518600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
10	chr4:22518200-22518600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
11	chr4:22518200-22518600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr4:22518200-22518600	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr4:22518200-22518600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr4:22518200-22518600	Flanking Active TSS	Fetal Heart	heart
15	chr4:22518200-22518600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr4:22518200-22518600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr4:22518200-22518800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:22518200-22518800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:22518200-22518800	Active TSS	Fetal Muscle Trunk	muscle
20	chr4:22518200-22518800	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr4:22518200-22519000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:22518400-22518600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr4:22518400-22518600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:22518400-22518600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr4:22518400-22518600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:22518400-22518600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr4:22518400-22518600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:22518400-22518600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:22518400-22518600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:22518400-22518600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:22518400-22518600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:22518400-22518600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:22518400-22518600	Enhancers	Duodenum Mucosa	Duodenum
34	chr4:22518400-22518600	Enhancers	Fetal Intestine Large	intestine
35	chr4:22518400-22518600	Enhancers	Fetal Intestine Small	intestine
36	chr4:22518400-22518600	Weak transcription	Fetal Lung	lung
37	chr4:22518400-22518600	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr4:22518400-22518600	Enhancers	Stomach Smooth Muscle	stomach
39	chr4:22518400-22518600	Active TSS	HSMMtube	muscle
40	chr4:22518400-22518600	Enhancers	NH-A	brain
41	chr4:22518400-22518600	Active TSS	NHEK	skin
42	chr4:22518400-22518800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr4:22518400-22518800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr4:22518400-22518800	Enhancers	Liver	Liver
45	chr4:22518400-22518800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr4:22518400-22518800	Enhancers	Fetal Muscle Leg	muscle
47	chr4:22518400-22518800	Enhancers	Psoas Muscle	Psoas
48	chr4:22518400-22518800	Enhancers	Right Ventricle	heart
49	chr4:22518400-22518800	Enhancers	A549	lung
50	chr4:22518400-22518800	Enhancers	HepG2	liver

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