Variant report

Variant	rs73816216
Chromosome Location	chr4:54455648-54455649
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	GATA2	chr4:54455537-54455817	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:54449977..54452019-chr4:54455062..54457400,2	MCF-7	breast:
2	chr4:54441243..54444280-chr4:54454649..54458129,3	MCF-7	breast:
3	chr4:54449770..54452528-chr4:54455369..54457530,2	MCF-7	breast:

Variant related genes	Relation type
LNX1-AS2	TF binding region
ENSG00000173966	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28708567	1.00[AFR][1000 genomes]
rs55814032	1.00[AFR][1000 genomes]
rs9998548	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv437918	chr4:54451175-54483569	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv879014	chr4:54451246-54461548	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54425200-54457400	Weak transcription	Right Atrium	heart
2	chr4:54431200-54456600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:54443600-54457000	Weak transcription	Colonic Mucosa	Colon
4	chr4:54448600-54457400	Weak transcription	HMEC	breast
5	chr4:54450800-54457000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:54452600-54456200	Enhancers	Fetal Intestine Large	intestine
7	chr4:54452600-54456400	Weak transcription	Fetal Lung	lung
8	chr4:54452600-54458600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:54452600-54459600	Enhancers	HepG2	liver
10	chr4:54452800-54457400	Weak transcription	NHEK	skin
11	chr4:54452800-54458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:54452800-54459000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:54453000-54457000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:54453000-54457200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:54453000-54457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:54453000-54458800	Weak transcription	Small Intestine	intestine
17	chr4:54453200-54455800	Enhancers	Liver	Liver
18	chr4:54453200-54459200	Weak transcription	Osteobl	bone
19	chr4:54453800-54456000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr4:54454200-54455800	Weak transcription	Fetal Kidney	kidney
21	chr4:54454200-54458400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:54454600-54457800	Active TSS	Esophagus	oesophagus
23	chr4:54454600-54459000	Enhancers	Fetal Muscle Leg	muscle
24	chr4:54454800-54455800	Enhancers	Fetal Heart	heart
25	chr4:54454800-54456000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr4:54454800-54459000	Weak transcription	Aorta	Aorta
27	chr4:54455000-54456000	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr4:54455000-54456800	Enhancers	K562	blood
29	chr4:54455200-54456400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:54455200-54456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:54455400-54455800	Enhancers	Pancreas	Pancrea
32	chr4:54455400-54456000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr4:54455400-54456000	Weak transcription	Placenta	Placenta
34	chr4:54455400-54457000	Weak transcription	Gastric	stomach
35	chr4:54455400-54457400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr4:54455400-54457600	Weak transcription	Right Ventricle	heart
37	chr4:54455400-54458400	Weak transcription	Left Ventricle	heart
38	chr4:54455600-54455800	Enhancers	Stomach Mucosa	stomach
39	chr4:54455600-54456400	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr4:54455600-54457800	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr4:54455600-54458000	Active TSS	Rectal Mucosa Donor 29	rectum

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