Variant report

Variant	rs62391731
Chromosome Location	chr5:126111427-126111428
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:126111057-126115293	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:126111237-126115281	GM12891	blood:	n/a	n/a
3	NFIC	chr5:126111055-126113198	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:126111268-126111820	K562	blood:	n/a	n/a
5	SPI1	chr5:126111333-126111520	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:126111388-126111569	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:126111271-126111696	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr5:126111159-126114950	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:126111415-126111650	HepG2	liver:	n/a	n/a
10	SPI1	chr5:126111389-126111518	K562	blood:	n/a	n/a
11	POLR2A	chr5:126111247-126114414	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr5:126111171-126114926	GM12892	blood:	n/a	n/a
13	TCF12	chr5:126111164-126114605	A549	lung:	n/a	chr5:126113910-126113917
14	YY1	chr5:126111327-126111559	K562	blood:	n/a	n/a
15	YY1	chr5:126111238-126111859	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:126111210-126114710	GM18526	blood:	n/a	n/a
17	PML	chr5:126111162-126115127	GM12878	blood:	n/a	chr5:126114256-126114264
18	YY1	chr5:126111245-126111851	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:126111333-126114796	GM18505	blood:	n/a	n/a
20	POLR2A	chr5:126111399-126111541	Gliobla	brain:	n/a	n/a
21	POLR2A	chr5:126111040-126111840	PANC-1	pancreas:	n/a	n/a
22	ELF1	chr5:126111355-126111581	K562	blood:	n/a	n/a
23	POLR2A	chr5:126111181-126115016	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:126111206-126114885	GM19099	blood:	n/a	n/a
25	POLR2A	chr5:126111129-126114993	GM12892	blood:	n/a	n/a
26	POLR2A	chr5:126111282-126111495	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr5:126111214-126114908	GM12892	blood:	n/a	n/a
28	YY1	chr5:126111247-126111657	GM12892	blood:	n/a	n/a
29	POLR2A	chr5:126111403-126115028	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr5:126111378-126111530	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:126111303-126115110	GM18951	blood:	n/a	n/a
32	POLR2A	chr5:126111350-126114740	K562	blood:	n/a	n/a
33	POLR2A	chr5:126111229-126111535	GM12892	blood:	n/a	n/a
34	MTA3	chr5:126111101-126114994	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:57582844..57583830-chr5:126111268..126111882,2	Hela-S3	cervix:
2	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:

No data

Variant related genes	Relation type
LMNB1	TF binding region
ENSG00000168374	Chromatin interaction
ENSG00000272146	Chromatin interaction
ENSG00000252185	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17532839	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17598428	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17598867	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3763156	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3805739	0.87[EUR][1000 genomes]
rs55656009	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62391696	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62391699	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62391701	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62391704	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62391730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391735	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391738	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391742	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62392862	0.87[EUR][1000 genomes]
rs6874636	0.90[ASN][1000 genomes]
rs7714589	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732759	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126111000-126111600	Enhancers	HUVEC	blood vessel
2	chr5:126111200-126111600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr5:126111200-126111600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:126111200-126111600	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:126111200-126111600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:126111200-126111600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:126111200-126111600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:126111200-126111600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:126111200-126111600	Enhancers	Liver	Liver
10	chr5:126111200-126111600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:126111200-126111600	Enhancers	Fetal Lung	lung
12	chr5:126111200-126111600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr5:126111200-126111600	Enhancers	Dnd41	blood
14	chr5:126111200-126111600	Flanking Active TSS	K562	blood
15	chr5:126111200-126111600	Enhancers	NH-A	brain
16	chr5:126111200-126111600	Enhancers	NHEK	skin
17	chr5:126111200-126111800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:126111200-126111800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:126111200-126111800	Enhancers	Primary B cells from cord blood	blood
20	chr5:126111200-126111800	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr5:126111200-126111800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:126111200-126111800	Active TSS	Duodenum Mucosa	Duodenum
23	chr5:126111200-126111800	Enhancers	Placenta	Placenta
24	chr5:126111200-126111800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr5:126111200-126111800	Enhancers	Right Ventricle	heart
26	chr5:126111200-126111800	Flanking Active TSS	GM12878-XiMat	blood
27	chr5:126111200-126112000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:126111200-126112000	Enhancers	Primary B cells from peripheral blood	blood
29	chr5:126111200-126112400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr5:126111200-126112400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:126111200-126112400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr5:126111200-126112600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:126111200-126112800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr5:126111200-126113400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr5:126111200-126113400	Active TSS	Fetal Brain Female	brain
36	chr5:126111200-126114400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:126111200-126114600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:126111200-126114600	Active TSS	NHLF	lung
39	chr5:126111200-126115000	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr5:126111200-126115400	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr5:126111200-126115800	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr5:126111200-126115800	Active TSS	A549	lung
43	chr5:126111400-126111600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:126111400-126111600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:126111400-126111600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr5:126111400-126111600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:126111400-126111600	Active TSS	Brain Cingulate Gyrus	brain
48	chr5:126111400-126111600	Enhancers	Brain Hippocampus Middle	brain
49	chr5:126111400-126111600	Enhancers	Esophagus	oesophagus
50	chr5:126111400-126111600	Enhancers	Fetal Muscle Trunk	muscle

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