Variant report

Variant	rs1548045
Chromosome Location	chr2:174024458-174024459
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	CEBPB	chr2:174024368-174025010	MCF-7	breast:	n/a	chr2:174024692-174024703
2	POLR2A	chr2:174024452-174024627	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr2:174023230-174026672	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr2:174024381-174025244	MCF10A-Er-Src	breast:	n/a	chr2:174024708-174024719 chr2:174024492-174024499 chr2:174024694-174024702
5	STAT3	chr2:174024324-174025244	MCF10A-Er-Src	breast:	n/a	chr2:174024708-174024719 chr2:174024492-174024499 chr2:174024694-174024702
6	POLR2A	chr2:174024365-174024814	Hela-S3	cervix:	n/a	n/a
7	NR3C1	chr2:174024451-174024809	A549	lung:	n/a	n/a
8	POLR2A	chr2:174024429-174025133	PANC-1	pancreas:	n/a	n/a
9	FOS	chr2:174024382-174025190	MCF10A-Er-Src	breast:	n/a	chr2:174024721-174024731
10	EP300	chr2:174024314-174025115	A549	lung:	n/a	n/a
11	STAT3	chr2:174024406-174025352	MCF10A-Er-Src	breast:	n/a	chr2:174024708-174024719 chr2:174024492-174024499 chr2:174024694-174024702
12	FOXA2	chr2:174024371-174024950	A549	lung:	n/a	n/a
13	POLR2A	chr2:174022251-174026716	MCF10A-Er-Src	breast:	n/a	n/a
14	MAX	chr2:174024438-174025070	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr2:174024358-174024982	HCT-116	colon:	n/a	chr2:174024692-174024703
16	FOS	chr2:174024383-174025171	MCF10A-Er-Src	breast:	n/a	chr2:174024721-174024731
17	MYC	chr2:174024382-174024990	MCF10A-Er-Src	breast:	n/a	n/a
18	CBX3	chr2:174024393-174024941	HCT-116	colon:	n/a	n/a
19	FOS	chr2:174024417-174025179	MCF10A-Er-Src	breast:	n/a	chr2:174024721-174024731
20	FOXA2	chr2:174024310-174024795	A549	lung:	n/a	n/a
21	GATA3	chr2:174024248-174025289	A549	lung:	n/a	chr2:174024429-174024438 chr2:174025234-174025243
22	STAT3	chr2:174024437-174025577	Hela-S3	cervix:	n/a	chr2:174024708-174024719 chr2:174024492-174024499 chr2:174024694-174024702
23	EP300	chr2:174024269-174025228	A549	lung:	n/a	n/a
24	JUND	chr2:174024458-174024867	A549	lung:	n/a	chr2:174024721-174024731
25	POLR2A	chr2:174024361-174026784	U87	brain:	n/a	n/a
26	SP1	chr2:174024402-174024980	HCT-116	colon:	n/a	n/a
27	TCF12	chr2:174024423-174024918	A549	lung:	n/a	n/a
28	CEBPB	chr2:174024404-174025182	Hela-S3	cervix:	n/a	chr2:174024692-174024703
29	SP1	chr2:174024348-174025162	A549	lung:	n/a	n/a
30	POLR2A	chr2:174024396-174026680	U87	brain:	n/a	n/a
31	MYC	chr2:174024392-174024946	MCF10A-Er-Src	breast:	n/a	n/a
32	CEBPB	chr2:174024396-174025002	A549	lung:	n/a	chr2:174024692-174024703
33	TCF12	chr2:174024269-174025223	A549	lung:	n/a	n/a
34	CEBPB	chr2:174024427-174024829	MCF-7	breast:	n/a	chr2:174024692-174024703
35	NR3C1	chr2:174024438-174024778	A549	lung:	n/a	n/a
36	POLR2A	chr2:174024261-174026768	U87	brain:	n/a	n/a
37	MAX	chr2:174024352-174024974	A549	lung:	n/a	n/a
38	PBX3	chr2:174024430-174024938	SK-N-SH	brain:	n/a	n/a
39	CEBPB	chr2:174024297-174025220	A549	lung:	n/a	chr2:174024692-174024703
40	FOSL2	chr2:174024377-174025286	A549	lung:	n/a	chr2:174024721-174024731
41	STAT3	chr2:174024271-174025513	MCF10A-Er-Src	breast:	n/a	chr2:174024708-174024719 chr2:174024492-174024499 chr2:174024694-174024702
42	POLR2A	chr2:174024255-174026774	U87	brain:	n/a	n/a
43	ZNF263	chr2:174024366-174024969	HEK293-T-REx	kidney:	n/a	chr2:174024639-174024648
44	CEBPB	chr2:174024339-174025085	HCT-116	colon:	n/a	chr2:174024692-174024703
45	BCL3	chr2:174024388-174025145	A549	lung:	n/a	n/a
46	ATF3	chr2:174024436-174024967	A549	lung:	n/a	n/a
47	EP300	chr2:174024458-174025144	Hela-S3	cervix:	n/a	n/a
48	SP1	chr2:174024273-174025200	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000091436	TF binding region

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11676760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12693018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13030567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13031358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13032024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1345005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1866635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2119125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4146109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972396	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433391	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433393	1.00[AMR][1000 genomes]
rs6433394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433396	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433397	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6713429	1.00[AMR][1000 genomes]
rs6739869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6741598	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174012800-174026600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr2:174013400-174025400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:174013600-174024600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:174015400-174027400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:174015400-174047000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:174016200-174048800	Weak transcription	K562	blood
7	chr2:174016400-174028200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:174018000-174025400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:174021200-174024800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:174021600-174025600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:174021600-174027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:174021600-174027800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:174021600-174030400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:174021800-174025400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:174021800-174026400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:174022000-174024800	Weak transcription	Right Ventricle	heart
17	chr2:174022000-174027800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:174022400-174025400	Enhancers	NHDF-Ad	bronchial
19	chr2:174022400-174026400	Enhancers	NHEK	skin
20	chr2:174022400-174026600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:174022400-174026600	Enhancers	HMEC	breast
22	chr2:174022600-174025400	Weak transcription	Left Ventricle	heart
23	chr2:174022600-174025400	Weak transcription	Psoas Muscle	Psoas
24	chr2:174023600-174025400	Weak transcription	Aorta	Aorta
25	chr2:174023800-174024800	Enhancers	NHLF	lung
26	chr2:174023800-174026600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:174024000-174024800	Enhancers	Primary B cells from cord blood	blood
28	chr2:174024000-174026600	Enhancers	Osteobl	bone
29	chr2:174024200-174024600	Enhancers	Small Intestine	intestine
30	chr2:174024200-174024800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:174024200-174024800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:174024200-174024800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:174024200-174024800	Enhancers	Fetal Muscle Trunk	muscle
34	chr2:174024200-174024800	Enhancers	Placenta	Placenta
35	chr2:174024200-174024800	Enhancers	Gastric	stomach
36	chr2:174024200-174024800	Enhancers	Pancreas	Pancrea
37	chr2:174024200-174024800	Enhancers	Right Atrium	heart
38	chr2:174024200-174025000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:174024200-174025800	Enhancers	Lung	lung
40	chr2:174024200-174025800	Enhancers	Ovary	ovary
41	chr2:174024200-174025800	Enhancers	HSMM	muscle
42	chr2:174024200-174026000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:174024200-174026200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:174024200-174026200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:174024200-174026600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr2:174024200-174026600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:174024200-174026600	Enhancers	Adipose Nuclei	Adipose
48	chr2:174024200-174026600	Enhancers	Liver	Liver
49	chr2:174024200-174026600	Enhancers	Fetal Heart	heart
50	chr2:174024400-174024600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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