Variant report

Variant	rs2053044
Chromosome Location	chr5:148205372-148205373
allele	A/G
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	RAD21	chr5:148205191-148205646	Hela-S3	cervix:	n/a	n/a
2	GTF2F1	chr5:148205346-148206207	Hela-S3	cervix:	n/a	n/a
3	SIN3AK20	chr5:148205279-148206485	MCF-7	breast:	n/a	n/a
4	MAZ	chr5:148205299-148205417	K562	blood:	n/a	n/a
5	CHD2	chr5:148205257-148206306	Hela-S3	cervix:	n/a	n/a
6	MAZ	chr5:148204960-148207167	IMR90	lung:	n/a	n/a
7	ZNF263	chr5:148205340-148206450	HEK293-T-REx	kidney:	n/a	n/a
8	NRF1	chr5:148205208-148206717	SK-N-SH	brain:	n/a	chr5:148205855-148205869 chr5:148205858-148205869 chr5:148205858-148205867 chr5:148205858-148205872
9	MAX	chr5:148205313-148206685	NB4	blood:	n/a	n/a
10	RCOR1	chr5:148205249-148206283	Hela-S3	cervix:	n/a	n/a
11	MAX	chr5:148205283-148206770	ECC-1	luminal epithelium:	n/a	n/a
12	STAT3	chr5:148205340-148206276	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr5:148205275-148206372	Hela-S3	cervix:	n/a	n/a
14	USF2	chr5:148205335-148205688	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr5:148205311-148205375	Hela-S3	cervix:	n/a	n/a
16	STAT3	chr5:148205257-148205579	MCF10A-Er-Src	breast:	n/a	chr5:148205318-148205326
17	MXI1	chr5:148205245-148206263	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr5:148205315-148206526	HUVEC	blood vessel:	n/a	n/a
19	FOS	chr5:148205259-148205622	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXA1	chr5:148205327-148205766	T-47D	breast:	n/a	chr5:148205544-148205556
21	STAT3	chr5:148205314-148205482	MCF10A-Er-Src	breast:	n/a	chr5:148205318-148205326
22	CTCF	chr5:148205300-148205450	HMEC	breast:	n/a	n/a
23	CTCF	chr5:148205320-148205470	AG10803	skin:	n/a	n/a
24	MAX	chr5:148205265-148206652	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr5:148205354-148207143	MCF10A-Er-Src	breast:	n/a	n/a
26	MYC	chr5:148205242-148206618	MCF10A-Er-Src	breast:	n/a	n/a
27	RAD21	chr5:148205339-148205534	IMR90	lung:	n/a	n/a
28	KAP1	chr5:148205178-148206532	HEK293	kidney:	n/a	n/a
29	EP300	chr5:148205344-148205833	T-47D	breast:	n/a	chr5:148205547-148205557
30	SIN3AK20	chr5:148205261-148206394	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr5:148205223-148206398	Hela-S3	cervix:	n/a	n/a
32	TBP	chr5:148205211-148206325	Hela-S3	cervix:	n/a	n/a
33	MAZ	chr5:148205310-148206344	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr5:148205247-148205754	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTBP2	chr5:148205312-148206726	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr5:148205294-148206358	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr5:148205366-148206438	Hela-S3	cervix:	n/a	n/a
38	MAX	chr5:148205275-148205781	H1-hESC	embryonic stem cell:	n/a	n/a
39	FOS	chr5:148205304-148205627	MCF10A-Er-Src	breast:	n/a	n/a
40	JUND	chr5:148205348-148206188	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3A	chr5:148205228-148206382	H1-hESC	embryonic stem cell:	n/a	chr5:148205372-148205380 chr5:148206016-148206029
42	FOXA1	chr5:148205334-148205696	HepG2	liver:	n/a	chr5:148205544-148205556
43	GATA3	chr5:148205201-148205719	T-47D	breast:	n/a	n/a
44	RFX5	chr5:148205237-148206349	Hela-S3	cervix:	n/a	n/a
45	MAX	chr5:148205345-148206902	A549	lung:	n/a	n/a
46	POLR2A	chr5:148205200-148206588	HUVEC	blood vessel:	n/a	n/a
47	MAX	chr5:148205141-148206794	ECC-1	luminal epithelium:	n/a	n/a
48	CEBPB	chr5:148205187-148206245	Hela-S3	cervix:	n/a	n/a
49	BHLHE40	chr5:148205320-148205427	K562	blood:	n/a	n/a
50	POLR2A	chr5:148205277-148207555	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
ADRB2	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10078004	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1042711	0.95[EUR][1000 genomes]
rs1042714	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs11168066	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168067	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168068	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168070	0.98[EUR][1000 genomes]
rs11746634	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11958940	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11959427	0.97[EUR][1000 genomes]
rs11959615	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13357143	0.83[ASN][1000 genomes]
rs1432622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432623	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801704	1.00[CEU][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs2082382	0.94[EUR][1000 genomes]
rs2082395	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2400707	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34064454	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705059	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705060	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56330463	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67339154	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6878362	0.83[ASN][1000 genomes]
rs9325120	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9325122	0.95[EUR][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	nsv883022	chr5:148200553-148205372	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv599947	chr5:148205372-148206440	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:148186400-148205400	Weak transcription	Aorta	Aorta
2	chr5:148197600-148205400	Weak transcription	Spleen	Spleen
3	chr5:148203200-148206000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr5:148204400-148205400	Weak transcription	Gastric	stomach
5	chr5:148205000-148205400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:148205000-148205400	Flanking Active TSS	Fetal Heart	heart
7	chr5:148205000-148205400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr5:148205000-148205400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr5:148205000-148205600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr5:148205000-148205600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr5:148205000-148205600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:148205000-148205600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr5:148205000-148205600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:148205000-148205600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr5:148205000-148205600	Flanking Active TSS	Hela-S3	cervix
16	chr5:148205000-148205600	Flanking Active TSS	HMEC	breast
17	chr5:148205000-148205800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:148205000-148205800	Flanking Active TSS	Liver	Liver
19	chr5:148205000-148205800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr5:148205000-148205800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr5:148205000-148205800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr5:148205000-148205800	Bivalent/Poised TSS	A549	lung
23	chr5:148205000-148206400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr5:148205000-148206400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:148205000-148206800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:148205000-148206800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:148205000-148207000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:148205000-148209400	Active TSS	Right Ventricle	heart
29	chr5:148205200-148205400	Active TSS	H1 Cell Line	embryonic stem cell
30	chr5:148205200-148205400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:148205200-148205400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:148205200-148205400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr5:148205200-148205400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr5:148205200-148205400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:148205200-148205400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:148205200-148205400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:148205200-148205400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:148205200-148205400	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr5:148205200-148205400	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr5:148205200-148205400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr5:148205200-148205400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr5:148205200-148205400	Flanking Active TSS	Fetal Brain Female	brain
43	chr5:148205200-148205400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
44	chr5:148205200-148205400	Flanking Active TSS	Fetal Lung	lung
45	chr5:148205200-148205400	Active TSS	Fetal Muscle Trunk	muscle
46	chr5:148205200-148205400	Bivalent Enhancer	Placenta	Placenta
47	chr5:148205200-148205400	Flanking Active TSS	HepG2	liver
48	chr5:148205200-148205600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:148205200-148205600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:148205200-148205600	Flanking Active TSS	Primary T cells from cord blood	blood

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