Variant report

Variant	rs59370761
Chromosome Location	chr1:45143415-45143416
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:45143280-45143430	HMEC	breast:	n/a	n/a
2	CTCF	chr1:45143300-45143450	HVMF	connective:	n/a	n/a
3	CTCF	chr1:45143320-45143470	AG04449	skin:	n/a	n/a
4	CTCF	chr1:45143320-45143470	GM12867	blood:	n/a	n/a
5	CEBPB	chr1:45142085-45143635	HCT-116	colon:	n/a	chr1:45142961-45142972

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45074900..45075560-chr1:45142923..45143554,2	MCF-7	breast:
2	chr1:45100964..45102855-chr1:45141535..45143464,3	K562	blood:
3	chr1:45140788..45143214-chr1:45143227..45145914,3	K562	blood:
4	chr1:45142247..45144071-chr1:45145267..45147780,2	MCF-7	breast:
5	chr1:45141360..45143507-chr1:45193675..45195240,2	MCF-7	breast:
6	chr1:45141963..45146217-chr1:45184774..45188907,4	MCF-7	breast:
7	chr1:45143056..45144712-chr1:45146668..45150379,3	MCF-7	breast:
8	chr1:45142356..45144412-chr1:45166029..45168004,2	K562	blood:
9	chr1:45074788..45075760-chr1:45142553..45143482,3	K562	blood:

No data

Variant related genes	Relation type
TMEM53	TF binding region
ENSG00000198520	Chromatin interaction
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1051664	0.98[ASN][1000 genomes]
rs56257701	0.97[ASN][1000 genomes]
rs58019041	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58035624	0.95[ASN][1000 genomes]
rs58401148	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58678671	0.97[ASN][1000 genomes]
rs59764933	0.91[ASN][1000 genomes]
rs59790609	0.93[ASN][1000 genomes]
rs60469789	1.00[ASN][1000 genomes]
rs60476008	0.98[ASN][1000 genomes]
rs6429544	0.94[ASN][1000 genomes]
rs6665374	0.96[ASN][1000 genomes]
rs6667593	0.97[ASN][1000 genomes]
rs6698388	0.96[ASN][1000 genomes]
rs72671972	0.97[ASN][1000 genomes]
rs74070566	0.91[ASN][1000 genomes]
rs74070577	1.00[ASN][1000 genomes]
rs7539312	0.96[ASN][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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45140600-45150200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:45140800-45143600	Enhancers	Fetal Intestine Large	intestine
3	chr1:45140800-45143600	Enhancers	Stomach Mucosa	stomach
4	chr1:45140800-45143800	Enhancers	Colonic Mucosa	Colon
5	chr1:45140800-45144000	Enhancers	Primary B cells from cord blood	blood
6	chr1:45140800-45145000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:45140800-45146800	Weak transcription	Esophagus	oesophagus
8	chr1:45141000-45143600	Enhancers	NHDF-Ad	bronchial
9	chr1:45141000-45143800	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:45141000-45143800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:45141000-45144000	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:45141000-45144400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:45141000-45144800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr1:45141000-45144800	Enhancers	Liver	Liver
15	chr1:45141000-45144800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr1:45141000-45145000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:45141000-45145200	Enhancers	Adipose Nuclei	Adipose
18	chr1:45141000-45146000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:45141000-45147000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:45141000-45147400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:45141000-45154200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:45141000-45154800	Weak transcription	Ovary	ovary
23	chr1:45141200-45144000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:45141200-45144200	Weak transcription	Brain Angular Gyrus	brain
25	chr1:45141200-45144200	Enhancers	NHLF	lung
26	chr1:45141200-45145000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:45141200-45145400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:45141200-45145800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:45141200-45146200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:45141200-45147200	Enhancers	HepG2	liver
31	chr1:45141200-45147400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:45141200-45147400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:45141200-45147800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:45141200-45164400	Weak transcription	Fetal Brain Female	brain
35	chr1:45141600-45143600	Enhancers	HSMM	muscle
36	chr1:45141600-45143800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr1:45141800-45143600	Enhancers	A549	lung
38	chr1:45141800-45144400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr1:45142000-45143800	Weak transcription	Psoas Muscle	Psoas
40	chr1:45142000-45144200	Weak transcription	Left Ventricle	heart
41	chr1:45142000-45158600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:45142000-45159400	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:45142200-45143600	Enhancers	Hela-S3	cervix
44	chr1:45142600-45145000	Enhancers	Brain Anterior Caudate	brain
45	chr1:45142800-45143600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:45142800-45143600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr1:45142800-45143600	Enhancers	Lung	lung
48	chr1:45142800-45143800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:45142800-45144400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:45142800-45144600	Weak transcription	Colon Smooth Muscle	Colon

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