Variant report

Variant	rs58732838
Chromosome Location	chr6:72000496-72000497
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	CEBPB	chr6:72000351-72000641	HepG2	liver:	n/a	chr6:72000467-72000478
2	CEBPB	chr6:72000305-72000635	A549	lung:	n/a	chr6:72000467-72000478
3	CEBPB	chr6:72000337-72000576	H1-hESC	embryonic stem cell:	n/a	chr6:72000467-72000478
4	FOS	chr6:72000383-72000521	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr6:72000211-72000582	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr6:72000290-72000657	IMR90	lung:	n/a	chr6:72000467-72000478
7	FOS	chr6:72000386-72000618	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr6:71999833-72000643	Hela-S3	cervix:	n/a	chr6:72000467-72000478
9	FOS	chr6:72000315-72000516	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
OGFRL1	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12055385	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1322759	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16881116	0.83[ASN][1000 genomes]
rs2208845	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2224656	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2273888	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59769896	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60555932	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6908858	0.83[ASN][1000 genomes]
rs6935796	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7756709	0.90[AFR][1000 genomes]
rs7773440	0.88[ASN][1000 genomes]
rs9294899	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9342828	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9342829	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9342830	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9346455	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9346457	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9346459	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9346460	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9354985	0.83[ASN][1000 genomes]
rs9354989	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9354993	0.80[ASN][1000 genomes]
rs9354994	0.85[EUR][1000 genomes]
rs9360445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9360447	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9360448	0.80[ASN][1000 genomes]
rs9364148	0.83[ASN][1000 genomes]
rs9364149	0.83[ASN][1000 genomes]
rs9364150	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9364151	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9364152	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9364153	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9364155	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9455418	0.85[ASN][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	esv1795873	chr6:71997278-72005794	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1841286	chr6:71997278-72006512	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1802752	chr6:71998480-72005794	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71997000-72002000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr6:71997600-72001400	Active TSS	Brain Substantia Nigra	brain
3	chr6:71997800-72000800	Active TSS	HSMMtube	muscle
4	chr6:71997800-72002000	Active TSS	Brain Cingulate Gyrus	brain
5	chr6:71997800-72003000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr6:71998000-72000600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:71998000-72002200	Active TSS	Brain Angular Gyrus	brain
8	chr6:71998200-72000600	Active TSS	Fetal Thymus	thymus
9	chr6:71998200-72002200	Active TSS	GM12878-XiMat	blood
10	chr6:71999000-72000800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr6:71999000-72002000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:71999200-72003600	Weak transcription	Spleen	Spleen
13	chr6:71999200-72003800	Weak transcription	Gastric	stomach
14	chr6:71999200-72003800	Weak transcription	Ovary	ovary
15	chr6:71999400-72000600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:71999400-72000800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr6:71999400-72001000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr6:71999400-72001800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:71999400-72002000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr6:71999600-72000600	Weak transcription	Aorta	Aorta
21	chr6:71999600-72000800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:71999600-72002000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:71999600-72002000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr6:71999600-72002000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr6:71999600-72002600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:71999600-72003800	Weak transcription	Stomach Mucosa	stomach
27	chr6:71999600-72012600	Weak transcription	Colonic Mucosa	Colon
28	chr6:71999800-72000600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:71999800-72000600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr6:71999800-72000600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:71999800-72000800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:71999800-72000800	Weak transcription	Small Intestine	intestine
33	chr6:71999800-72001000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr6:71999800-72001000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:71999800-72001000	Enhancers	Colon Smooth Muscle	Colon
36	chr6:71999800-72001000	Active TSS	Fetal Lung	lung
37	chr6:71999800-72001400	Enhancers	Fetal Intestine Small	intestine
38	chr6:71999800-72001800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:71999800-72002000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:71999800-72002000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr6:71999800-72002000	Enhancers	Primary B cells from peripheral blood	blood
42	chr6:71999800-72002000	Active TSS	Right Atrium	heart
43	chr6:71999800-72002200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:71999800-72002200	Enhancers	Fetal Brain Male	brain
45	chr6:71999800-72003400	Weak transcription	Liver	Liver
46	chr6:71999800-72003600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr6:71999800-72003600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr6:71999800-72003600	Weak transcription	Lung	lung
49	chr6:71999800-72003800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:71999800-72003800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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