Variant report

Variant	rs72747385
Chromosome Location	chr1:220268260-220268261
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	MAX	chr1:220266819-220268414	HCT-116	colon:	n/a	chr1:220267928-220267938 chr1:220267410-220267420
2	E2F6	chr1:220268112-220268329	K562	blood:	n/a	n/a
3	SP1	chr1:220266792-220268273	HCT-116	colon:	n/a	chr1:220267408-220267418 chr1:220267409-220267418 chr1:220267311-220267320 chr1:220267330-220267342 chr1:220267312-220267321 chr1:220267435-220267444 chr1:220267310-220267322 chr1:220267332-220267341 chr1:220267435-220267444 chr1:220267924-220267938 chr1:220267434-220267446 chr1:220267434-220267445 chr1:220267929-220267938 chr1:220267408-220267417 chr1:220267928-220267937 chr1:220267436-220267445 chr1:220267407-220267419 chr1:220267331-220267340 chr1:220267408-220267417 chr1:220267330-220267342 chr1:220267927-220267939 chr1:220267435-220267449 chr1:220267831-220267843 chr1:220267498-220267509 chr1:220267407-220267419 chr1:220267408-220267418 chr1:220267928-220267938 chr1:220267927-220267939 chr1:220267832-220267841 chr1:220267408-220267422 chr1:220267311-220267320
4	SIN3AK20	chr1:220267246-220268311	MCF-7	breast:	n/a	n/a
5	MAX	chr1:220267260-220268294	A549	lung:	n/a	chr1:220267928-220267938 chr1:220267410-220267420
6	POLR2A	chr1:220267329-220268303	Hela-S3	cervix:	n/a	n/a
7	TEAD4	chr1:220267261-220268371	K562	blood:	n/a	n/a
8	MAX	chr1:220267223-220268344	HepG2	liver:	n/a	chr1:220267928-220267938 chr1:220267410-220267420
9	SMARCB1	chr1:220267410-220268557	Hela-S3	cervix:	n/a	n/a
10	SP1	chr1:220266891-220268298	A549	lung:	n/a	chr1:220267408-220267418 chr1:220267409-220267418 chr1:220267311-220267320 chr1:220267330-220267342 chr1:220267312-220267321 chr1:220267435-220267444 chr1:220267310-220267322 chr1:220267332-220267341 chr1:220267435-220267444 chr1:220267924-220267938 chr1:220267434-220267446 chr1:220267434-220267445 chr1:220267929-220267938 chr1:220267408-220267417 chr1:220267928-220267937 chr1:220267436-220267445 chr1:220267407-220267419 chr1:220267331-220267340 chr1:220267408-220267417 chr1:220267330-220267342 chr1:220267927-220267939 chr1:220267435-220267449 chr1:220267831-220267843 chr1:220267498-220267509 chr1:220267407-220267419 chr1:220267408-220267418 chr1:220267928-220267938 chr1:220267927-220267939 chr1:220267832-220267841 chr1:220267408-220267422 chr1:220267311-220267320
11	SIN3AK20	chr1:220267252-220268312	K562	blood:	n/a	n/a
12	RCOR1	chr1:220267034-220268515	K562	blood:	n/a	n/a
13	MAZ	chr1:220266994-220268469	IMR90	lung:	n/a	chr1:220267928-220267938 chr1:220267410-220267420
14	POLR2A	chr1:220267388-220268262	H1-hESC	embryonic stem cell:	n/a	n/a
15	HA-E2F1	chr1:220267518-220268384	MCF-7	breast:	n/a	n/a
16	MAX	chr1:220267244-220268359	K562	blood:	n/a	chr1:220267928-220267938 chr1:220267410-220267420
17	SIN3AK20	chr1:220268141-220268292	HepG2	liver:	n/a	n/a
18	CHD2	chr1:220268135-220268300	GM12878	blood:	n/a	n/a
19	MXI1	chr1:220266607-220268600	SK-N-SH	brain:	n/a	n/a
20	E2F4	chr1:220267746-220268366	MCF10A-Er-Src	breast:	n/a	n/a
21	MAX	chr1:220267246-220268464	A549	lung:	n/a	chr1:220267928-220267938 chr1:220267410-220267420
22	HEY1	chr1:220267259-220268268	HepG2	liver:	n/a	chr1:220267336-220267351 chr1:220267517-220267532
23	MXI1	chr1:220266803-220268285	HepG2	liver:	n/a	n/a
24	POLR2A	chr1:220267252-220268271	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr1:220267377-220268511	SK-N-MC	brain:	n/a	n/a
26	HCFC1	chr1:220267214-220268302	Hela-S3	cervix:	n/a	n/a
27	MAX	chr1:220267283-220268277	Hela-S3	cervix:	n/a	chr1:220267928-220267938 chr1:220267410-220267420
28	POLR2A	chr1:220267313-220268466	K562	blood:	n/a	n/a
29	POLR2A	chr1:220267273-220268325	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:220266934-220268274	GM12891	blood:	n/a	n/a
31	MXI1	chr1:220267053-220268514	IMR90	lung:	n/a	n/a
32	CBX3	chr1:220268071-220268581	K562	blood:	n/a	n/a
33	NFIC	chr1:220267753-220268363	ECC-1	luminal epithelium:	n/a	n/a
34	E2F6	chr1:220267371-220268533	K562	blood:	n/a	chr1:220267409-220267418 chr1:220267458-220267467 chr1:220267517-220267528
35	POLR2A	chr1:220267321-220268295	GM12878	blood:	n/a	n/a
36	SIN3AK20	chr1:220267063-220268323	MCF-7	breast:	n/a	n/a
37	MAX	chr1:220267274-220268331	ECC-1	luminal epithelium:	n/a	chr1:220267928-220267938 chr1:220267410-220267420
38	MYC	chr1:220266801-220268276	NB4	blood:	n/a	chr1:220267928-220267938 chr1:220267410-220267420
39	MAX	chr1:220266823-220268349	HepG2	liver:	n/a	chr1:220267928-220267938 chr1:220267410-220267420

No.	Distal block	Cell Line	Cell type
1	chr1:220267529..220269249-chr1:220275235..220276981,2	K562	blood:
2	chr1:220260533..220264899-chr1:220265232..220269626,12	MCF-7	breast:
3	chr1:220218535..220220494-chr1:220265581..220269628,4	MCF-7	breast:
4	chr1:220090768..220093296-chr1:220265981..220268772,2	K562	blood:
5	chr1:220261171..220264758-chr1:220266195..220270505,9	MCF-7	breast:
6	chr1:220266934..220269601-chr1:220286713..220289289,2	K562	blood:
7	chr1:220266934..220268710-chr1:220286713..220288993,3	K562	blood:
8	chr1:220267849..220270969-chr1:220271218..220274109,4	MCF-7	breast:
9	chr1:220215698..220221065-chr1:220265352..220268996,5	K562	blood:
10	chr1:220266254..220269129-chr1:220290209..220292443,2	MCF-7	breast:
11	chr1:220218169..220221765-chr1:220261064..220269153,11	MCF-7	breast:
12	chr1:220267309..220268289-chrX:55744121..55744662,2	Hela-S3	cervix:

Variant related genes	Relation type
BPNT1	TF binding region
ENSG00000196660	Chromatin interaction
ENSG00000067704	Chromatin interaction
ENSG00000162813	Chromatin interaction
ENSG00000136628	Chromatin interaction
ENSG00000207590	Chromatin interaction
ENSG00000207624	Chromatin interaction
ENSG00000083750	Chromatin interaction

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

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

rs_ID	r²[population]
rs11095	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12568334	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12757995	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17563262	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17563518	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17563587	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2053250	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3738336	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3767654	0.86[AMR][1000 genomes]
rs57728897	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60531981	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61484867	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72747321	0.86[ASN][1000 genomes]
rs72747325	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72747386	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72747387	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72747389	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72747390	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72747391	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7549450	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220266800-220268400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:220266800-220268400	Active TSS	Brain Germinal Matrix	brain
3	chr1:220266800-220268400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr1:220266800-220268400	Active TSS	Right Atrium	heart
5	chr1:220266800-220268600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:220266800-220268600	Active TSS	Rectal Smooth Muscle	rectum
7	chr1:220266800-220268800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:220266800-220269000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:220267000-220268400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:220267000-220268400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:220267000-220268400	Active TSS	Muscle Satellite Cultured Cells	--
12	chr1:220267000-220268400	Active TSS	Brain Hippocampus Middle	brain
13	chr1:220267000-220268400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:220267000-220268400	Active TSS	Fetal Kidney	kidney
15	chr1:220267000-220268400	Active TSS	Left Ventricle	heart
16	chr1:220267000-220268400	Active TSS	Ovary	ovary
17	chr1:220267000-220268400	Active TSS	Right Ventricle	heart
18	chr1:220267000-220268600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:220267000-220268600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:220267000-220268800	Active TSS	NHDF-Ad	bronchial
21	chr1:220267000-220269000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:220267000-220269000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:220267000-220269000	Active TSS	HMEC	breast
24	chr1:220267000-220269200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:220267200-220268400	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr1:220267200-220268400	Active TSS	K562	blood
27	chr1:220267200-220268600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:220267200-220268800	Active TSS	A549	lung
29	chr1:220267200-220268800	Active TSS	GM12878-XiMat	blood
30	chr1:220267200-220269000	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:220267400-220268400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:220267400-220268400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:220267400-220268400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:220267400-220268400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:220267400-220268400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:220267400-220268400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:220267400-220268400	Active TSS	Aorta	Aorta
38	chr1:220267400-220268400	Active TSS	Lung	lung
39	chr1:220267400-220268400	Active TSS	Pancreas	Pancrea
40	chr1:220267400-220268400	Active TSS	Stomach Mucosa	stomach
41	chr1:220267400-220268400	Active TSS	Spleen	Spleen
42	chr1:220267400-220268400	Active TSS	NHLF	lung
43	chr1:220267400-220268600	Active TSS	H1 Cell Line	embryonic stem cell
44	chr1:220267400-220268600	Active TSS	H9 Cell Line	embryonic stem cell
45	chr1:220267400-220268600	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:220267400-220268600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:220267400-220268600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:220267400-220268600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:220267400-220268600	Active TSS	Colonic Mucosa	Colon
50	chr1:220267400-220268600	Active TSS	Esophagus	oesophagus

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