Variant report

Variant	rs72798245
Chromosome Location	chr5:126111236-126111237
allele	A/C
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	chr5:126111057-126115293	GM12878	blood:	n/a	n/a
2	NFIC	chr5:126111055-126113198	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:126111159-126114950	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:126111159-126111301	K562	blood:	n/a	n/a
5	POLR2A	chr5:126111171-126114926	GM12892	blood:	n/a	n/a
6	TCF12	chr5:126111164-126114605	A549	lung:	n/a	chr5:126113910-126113917
7	POLR2A	chr5:126111210-126114710	GM18526	blood:	n/a	n/a
8	PML	chr5:126111162-126115127	GM12878	blood:	n/a	chr5:126114256-126114264
9	WRNIP1	chr5:126111219-126111348	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:126111040-126111840	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr5:126111181-126115016	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:126111206-126114885	GM19099	blood:	n/a	n/a
13	POLR2A	chr5:126111129-126114993	GM12892	blood:	n/a	n/a
14	POLR2A	chr5:126111214-126114908	GM12892	blood:	n/a	n/a
15	POLR2A	chr5:126111229-126111535	GM12892	blood:	n/a	n/a
16	MTA3	chr5:126111101-126114994	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:

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

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12514703	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12514978	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12515255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12517303	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12518228	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12518331	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12520218	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12521266	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17165351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17165359	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2230151	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34364708	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3749830	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3805737	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3812062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55699774	0.92[ASN][1000 genomes]
rs55924928	0.84[AMR][1000 genomes]
rs56052550	0.84[AMR][1000 genomes]
rs56121757	1.00[ASN][1000 genomes]
rs56366269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58103919	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58418743	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59395878	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60107783	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60147760	1.00[ASN][1000 genomes]
rs60818126	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61074663	0.92[ASN][1000 genomes]
rs61383192	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72780203	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72780207	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72780210	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72780211	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72780212	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72780215	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72780216	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72780217	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72780218	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72780220	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72780222	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72798238	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72798243	1.00[ASN][1000 genomes]
rs72798246	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72798247	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72798249	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72798253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72798255	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7447810	0.92[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126110600-126111400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:126110600-126111400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:126111000-126111600	Enhancers	HUVEC	blood vessel
4	chr5:126111200-126111400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:126111200-126111400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:126111200-126111400	Enhancers	Fetal Intestine Small	intestine
7	chr5:126111200-126111400	Enhancers	Fetal Stomach	stomach
8	chr5:126111200-126111400	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr5:126111200-126111400	Enhancers	Stomach Mucosa	stomach
10	chr5:126111200-126111400	Enhancers	Hela-S3	cervix
11	chr5:126111200-126111400	Enhancers	HepG2	liver
12	chr5:126111200-126111400	Enhancers	NHDF-Ad	bronchial
13	chr5:126111200-126111400	Flanking Active TSS	Osteobl	bone
14	chr5:126111200-126111600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr5:126111200-126111600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:126111200-126111600	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:126111200-126111600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:126111200-126111600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:126111200-126111600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:126111200-126111600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:126111200-126111600	Enhancers	Liver	Liver
22	chr5:126111200-126111600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr5:126111200-126111600	Enhancers	Fetal Lung	lung
24	chr5:126111200-126111600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr5:126111200-126111600	Enhancers	Dnd41	blood
26	chr5:126111200-126111600	Flanking Active TSS	K562	blood
27	chr5:126111200-126111600	Enhancers	NH-A	brain
28	chr5:126111200-126111600	Enhancers	NHEK	skin
29	chr5:126111200-126111800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:126111200-126111800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr5:126111200-126111800	Enhancers	Primary B cells from cord blood	blood
32	chr5:126111200-126111800	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr5:126111200-126111800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:126111200-126111800	Active TSS	Duodenum Mucosa	Duodenum
35	chr5:126111200-126111800	Enhancers	Placenta	Placenta
36	chr5:126111200-126111800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr5:126111200-126111800	Enhancers	Right Ventricle	heart
38	chr5:126111200-126111800	Flanking Active TSS	GM12878-XiMat	blood
39	chr5:126111200-126112000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:126111200-126112000	Enhancers	Primary B cells from peripheral blood	blood
41	chr5:126111200-126112400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr5:126111200-126112400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:126111200-126112400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr5:126111200-126112600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:126111200-126112800	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr5:126111200-126113400	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr5:126111200-126113400	Active TSS	Fetal Brain Female	brain
48	chr5:126111200-126114400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:126111200-126114600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:126111200-126114600	Active TSS	NHLF	lung

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