Variant report

Variant	rs72731820
Chromosome Location	chr4:147443571-147443572
allele	C/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	EP300	chr4:147442716-147443894	ECC-1	luminal epithelium:	n/a	n/a
2	TAL1	chr4:147442856-147443803	K562	blood:	n/a	n/a
3	POLR2A	chr4:147443283-147443983	Gliobla	brain:	n/a	n/a
4	ELF1	chr4:147442933-147444243	GM12878	blood:	n/a	chr4:147444058-147444067 chr4:147444057-147444068 chr4:147444057-147444068
5	TBP	chr4:147442006-147443886	K562	blood:	n/a	n/a
6	CTCF	chr4:147443522-147443706	Spleen_OC	spleen:	n/a	n/a
7	ZBTB7A	chr4:147443421-147444207	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr4:147443424-147443785	Hela-S3	cervix:	n/a	n/a
9	FOXM1	chr4:147442663-147443746	GM12878	blood:	n/a	n/a
10	MAZ	chr4:147442737-147444314	K562	blood:	n/a	n/a
11	YY1	chr4:147443379-147443700	GM12891	blood:	n/a	chr4:147443571-147443582 chr4:147443488-147443499
12	HDAC2	chr4:147443466-147443872	H1-hESC	embryonic stem cell:	n/a	chr4:147443668-147443677
13	EP300	chr4:147443447-147443976	K562	blood:	n/a	n/a
14	ZEB1	chr4:147443483-147443776	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:147442046-147443804	HepG2	liver:	n/a	n/a
16	POLR2A	chr4:147442020-147443868	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr4:147443240-147443915	MCF-7	breast:	n/a	n/a
18	ZNF143	chr4:147442151-147443805	GM12878	blood:	n/a	chr4:147443696-147443706
19	TCF3	chr4:147443497-147443724	GM12878	blood:	n/a	n/a
20	FOS	chr4:147443450-147443696	MCF10A-Er-Src	breast:	n/a	n/a
21	REST	chr4:147443484-147443819	K562	blood:	n/a	n/a
22	NR3C1	chr4:147443348-147443742	A549	lung:	n/a	n/a
23	MYC	chr4:147442017-147444299	K562	blood:	n/a	chr4:147442374-147442384
24	EGR1	chr4:147443391-147443710	GM12878	blood:	n/a	chr4:147443656-147443666
25	STAT1	chr4:147442845-147443720	GM12878	blood:	n/a	chr4:147443298-147443310
26	POLR2A	chr4:147443300-147443950	ProgFib	skin:	n/a	n/a
27	ZEB1	chr4:147443018-147443920	GM12878	blood:	n/a	n/a
28	EP300	chr4:147443303-147443710	ECC-1	luminal epithelium:	n/a	n/a
29	MXI1	chr4:147442661-147444115	HepG2	liver:	n/a	n/a
30	ZNF143	chr4:147442981-147443990	H1-hESC	embryonic stem cell:	n/a	chr4:147443696-147443706
31	BCLAF1	chr4:147442723-147443838	GM12878	blood:	n/a	n/a
32	RCOR1	chr4:147442902-147443773	Hela-S3	cervix:	n/a	n/a
33	RCOR1	chr4:147441962-147444326	K562	blood:	n/a	n/a
34	POLR2A	chr4:147443370-147443786	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr4:147441763-147444260	HepG2	liver:	n/a	n/a
36	ATF2	chr4:147443414-147443788	H1-hESC	embryonic stem cell:	n/a	n/a
37	TCF7L2	chr4:147442701-147443713	PANC-1	pancreas:	n/a	n/a
38	SIN3AK20	chr4:147443423-147443700	HepG2	liver:	n/a	n/a
39	POLR2A	chr4:147441951-147444453	K562	blood:	n/a	n/a
40	HCFC1	chr4:147442073-147444255	K562	blood:	n/a	n/a
41	ZNF143	chr4:147442941-147443802	Hela-S3	cervix:	n/a	chr4:147443696-147443706
42	SP1	chr4:147442781-147443840	A549	lung:	n/a	chr4:147443567-147443581 chr4:147443656-147443668 chr4:147443570-147443582 chr4:147443657-147443666 chr4:147443571-147443580
43	POLR2A	chr4:147443424-147443878	HUVEC	blood vessel:	n/a	n/a
44	YY1	chr4:147442481-147443902	GM12878	blood:	n/a	chr4:147443571-147443582 chr4:147443488-147443499
45	POLR2A	chr4:147443383-147443807	SK-N-MC	brain:	n/a	n/a
46	TAF1	chr4:147443377-147443958	ECC-1	luminal epithelium:	n/a	n/a
47	MAFK	chr4:147442823-147443779	Hela-S3	cervix:	n/a	chr4:147443552-147443569 chr4:147443430-147443440
48	HDAC2	chr4:147442858-147444048	MCF-7	breast:	n/a	chr4:147443668-147443677
49	YY1	chr4:147442781-147443671	GM12892	blood:	n/a	chr4:147443571-147443582 chr4:147443488-147443499
50	TRIM28	chr4:147442748-147443850	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147429465..147431339-chr4:147443372..147446035,2	MCF-7	breast:
2	chr4:147438639..147441130-chr4:147443226..147445590,2	MCF-7	breast:

Variant related genes	Relation type
SLC10A7	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2357083	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2357085	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2358266	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34213717	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35559029	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3810842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41398848	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57453130	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs62326870	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62326903	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:147439200-147444400	Active TSS	GM12878-XiMat	blood
2	chr4:147440600-147444200	Active TSS	Psoas Muscle	Psoas
3	chr4:147441000-147444200	Active TSS	K562	blood
4	chr4:147441000-147444400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:147441000-147444400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:147441000-147444400	Active TSS	Right Atrium	heart
7	chr4:147441000-147444600	Active TSS	Fetal Brain Female	brain
8	chr4:147441200-147444200	Active TSS	Ovary	ovary
9	chr4:147441400-147444000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:147441400-147444200	Active TSS	NHLF	lung
11	chr4:147441400-147444400	Active TSS	HMEC	breast
12	chr4:147441400-147444400	Active TSS	NHDF-Ad	bronchial
13	chr4:147441600-147443800	Active TSS	NH-A	brain
14	chr4:147441600-147444000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:147441600-147444200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:147441800-147444000	Active TSS	HSMM	muscle
17	chr4:147441800-147444000	Active TSS	NHEK	skin
18	chr4:147441800-147444200	Active TSS	Aorta	Aorta
19	chr4:147441800-147444200	Active TSS	Colonic Mucosa	Colon
20	chr4:147441800-147444200	Active TSS	Stomach Mucosa	stomach
21	chr4:147441800-147444200	Active TSS	HSMMtube	muscle
22	chr4:147441800-147444400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:147441800-147444400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:147441800-147444400	Active TSS	Right Ventricle	heart
25	chr4:147441800-147444600	Active TSS	Muscle Satellite Cultured Cells	--
26	chr4:147442000-147443600	Active TSS	Lung	lung
27	chr4:147442000-147443800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:147442000-147443800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:147442000-147443800	Active TSS	Fetal Brain Male	brain
30	chr4:147442000-147443800	Active TSS	Fetal Muscle Leg	muscle
31	chr4:147442000-147444000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:147442000-147444000	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr4:147442000-147444000	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr4:147442000-147444000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:147442000-147444000	Active TSS	Liver	Liver
36	chr4:147442000-147444000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr4:147442000-147444000	Active TSS	Small Intestine	intestine
38	chr4:147442000-147444000	Active TSS	Hela-S3	cervix
39	chr4:147442000-147444200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:147442000-147444200	Active TSS	Gastric	stomach
41	chr4:147442000-147444200	Active TSS	Left Ventricle	heart
42	chr4:147442000-147444200	Active TSS	Pancreas	Pancrea
43	chr4:147442000-147444200	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr4:147442000-147444200	Bivalent/Poised TSS	HepG2	liver
45	chr4:147442000-147444400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr4:147442000-147444400	Active TSS	Fetal Intestine Small	intestine
47	chr4:147442000-147444400	Active TSS	Fetal Muscle Trunk	muscle
48	chr4:147442000-147444400	Active TSS	Placenta	Placenta
49	chr4:147442000-147444400	Active TSS	Fetal Thymus	thymus
50	chr4:147442000-147444400	Active TSS	Rectal Smooth Muscle	rectum

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