Variant report

Variant	rs73818152
Chromosome Location	chr4:54923192-54923193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:54923100-54923295	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:54923099-54923894	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:54923170..54924781-chr4:54929929..54932043,2	MCF-7	breast:
2	chr4:54922994..54925778-chr4:54929249..54931501,4	MCF-7	breast:
3	chr4:54916111..54920795-chr4:54922768..54925714,7	K562	blood:
4	chr4:54915633..54926386-chr4:54927502..54933148,13	K562	blood:
5	chr4:54920955..54923209-chr4:54925080..54927567,2	K562	blood:
6	chr4:54918318..54920195-chr4:54921763..54923924,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269506	TF binding region
ENSG00000109220	Chromatin interaction
ENSG00000269506	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10008718	1.00[AMR][1000 genomes]
rs1391764	1.00[AMR][1000 genomes]
rs1498831	1.00[AMR][1000 genomes]
rs17083589	1.00[AMR][1000 genomes]
rs17083604	1.00[AMR][1000 genomes]
rs57306680	1.00[AMR][1000 genomes]
rs57537230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59962691	1.00[AMR][1000 genomes]
rs61293289	1.00[AMR][1000 genomes]
rs73143858	1.00[AMR][1000 genomes]
rs73143861	1.00[AMR][1000 genomes]
rs73143867	1.00[AMR][1000 genomes]
rs73143869	1.00[AMR][1000 genomes]
rs73143872	1.00[AMR][1000 genomes]
rs73817163	1.00[AMR][1000 genomes]
rs73818151	1.00[AMR][1000 genomes]
rs73818160	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1794783	chr4:54850662-54943432	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1795083	chr4:54870229-54943432	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	esv1801874	chr4:54870229-54943432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54838400-54925400	Weak transcription	Aorta	Aorta
2	chr4:54866000-54924200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:54882200-54927200	Weak transcription	Pancreas	Pancrea
4	chr4:54884000-54927800	Weak transcription	Ovary	ovary
5	chr4:54889600-54928600	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:54897800-54928600	Weak transcription	Brain Substantia Nigra	brain
7	chr4:54899400-54923200	Weak transcription	Brain Germinal Matrix	brain
8	chr4:54899600-54926600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:54901000-54929600	Weak transcription	Esophagus	oesophagus
10	chr4:54912200-54926400	Weak transcription	K562	blood
11	chr4:54914600-54928600	Weak transcription	Fetal Stomach	stomach
12	chr4:54914800-54928600	Weak transcription	Hela-S3	cervix
13	chr4:54915000-54926200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:54915000-54927000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:54915200-54923400	Weak transcription	Fetal Thymus	thymus
16	chr4:54915200-54925600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:54915200-54927400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:54915200-54928800	Weak transcription	Placenta	Placenta
19	chr4:54915400-54928600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:54915600-54923400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:54915600-54924600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr4:54916800-54926200	Weak transcription	Fetal Lung	lung
23	chr4:54917000-54923200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:54917000-54927800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:54917000-54927800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:54917000-54928600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr4:54917200-54923200	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:54917200-54923400	Weak transcription	Stomach Mucosa	stomach
29	chr4:54917200-54926000	Weak transcription	NH-A	brain
30	chr4:54917400-54923600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:54917400-54926200	Weak transcription	HSMM	muscle
32	chr4:54917400-54927400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:54917600-54923600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:54918000-54923400	Weak transcription	Small Intestine	intestine
35	chr4:54918000-54924000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:54918000-54926400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:54918200-54926200	Weak transcription	NHDF-Ad	bronchial
38	chr4:54918200-54926600	Weak transcription	NHEK	skin
39	chr4:54918400-54924400	Weak transcription	NHLF	lung
40	chr4:54919000-54927800	Enhancers	Liver	Liver
41	chr4:54919400-54924000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:54920200-54929600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:54920800-54924200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr4:54920800-54928600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr4:54921000-54926400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:54921000-54929400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:54921200-54927600	Weak transcription	HSMMtube	muscle
48	chr4:54921400-54927800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:54921600-54923400	Weak transcription	Spleen	Spleen
50	chr4:54921600-54923800	Enhancers	Pancreatic Islets	Pancreatic Islet

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