Variant report

Variant	rs58602547
Chromosome Location	chr4:152330751-152330752
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	MAZ	chr4:152329701-152331332	Hela-S3	cervix:	n/a	chr4:152330312-152330322
2	MAZ	chr4:152330733-152331024	HepG2	liver:	n/a	n/a
3	SIN3A	chr4:152328913-152331560	H1-hESC	embryonic stem cell:	n/a	chr4:152330620-152330628 chr4:152330621-152330634
4	POLR2A	chr4:152329344-152331526	Hela-S3	cervix:	n/a	n/a
5	MAX	chr4:152329428-152331004	HCT-116	colon:	n/a	chr4:152330312-152330322 chr4:152329635-152329645
6	TBP	chr4:152330716-152330998	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF143	chr4:152330742-152330865	H1-hESC	embryonic stem cell:	n/a	chr4:152330814-152330832 chr4:152330812-152330822
8	MAX	chr4:152329680-152330978	HepG2	liver:	n/a	chr4:152330312-152330322
9	MAX	chr4:152329859-152330790	HepG2	liver:	n/a	chr4:152330312-152330322
10	CTCF	chr4:152330640-152330790	Caco-2	colon:	n/a	n/a
11	POLR2A	chr4:152330260-152331469	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr4:152329443-152331848	MCF10A-Er-Src	breast:	n/a	n/a
13	HMGN3	chr4:152330654-152330915	K562	blood:	n/a	n/a
14	CHD2	chr4:152329741-152331411	Hela-S3	cervix:	n/a	chr4:152330821-152330831
15	SMARCB1	chr4:152329579-152331434	Hela-S3	cervix:	n/a	n/a
16	ZEB1	chr4:152329663-152331590	HepG2	liver:	n/a	chr4:152330611-152330624
17	MAX	chr4:152329616-152331459	Hela-S3	cervix:	n/a	chr4:152330312-152330322 chr4:152329635-152329645
18	TCF12	chr4:152329652-152331578	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr4:152328956-152330792	H1-hESC	embryonic stem cell:	n/a	n/a
20	NRF1	chr4:152329872-152330871	SK-N-SH	brain:	n/a	n/a
21	ZEB1	chr4:152330496-152330921	GM12878	blood:	n/a	chr4:152330611-152330624
22	MAX	chr4:152329490-152330985	ECC-1	luminal epithelium:	n/a	chr4:152330312-152330322 chr4:152329635-152329645
23	TAF1	chr4:152330265-152330821	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr4:152330728-152331292	HepG2	liver:	n/a	chr4:152331105-152331116 chr4:152331107-152331118
25	ZNF263	chr4:152330343-152331580	HEK293-T-REx	kidney:	n/a	chr4:152330823-152330832 chr4:152330677-152330686

No.	Distal block	Cell Line	Cell type
1	chr4:152019364..152021476-chr4:152328335..152331101,2	MCF-7	breast:
2	chr4:152245112..152247146-chr4:152328940..152330768,2	MCF-7	breast:
3	chr4:152244677..152247078-chr4:152328782..152331586,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251611	TF binding region
ENSG00000145425	Chromatin interaction
ENSG00000109686	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10005764	1.00[EUR][1000 genomes]
rs17027541	1.00[EUR][1000 genomes]
rs17027575	1.00[EUR][1000 genomes]
rs2034062	1.00[EUR][1000 genomes]
rs2034063	1.00[EUR][1000 genomes]
rs28401367	1.00[EUR][1000 genomes]
rs28493533	1.00[EUR][1000 genomes]
rs28658039	1.00[EUR][1000 genomes]
rs28791569	1.00[EUR][1000 genomes]
rs28836884	1.00[EUR][1000 genomes]
rs56681758	1.00[EUR][1000 genomes]
rs59043107	1.00[EUR][1000 genomes]
rs60162090	1.00[EUR][1000 genomes]
rs6855493	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs727313	1.00[EUR][1000 genomes]
rs72967593	1.00[EUR][1000 genomes]
rs73861187	1.00[EUR][1000 genomes]
rs73861286	1.00[EUR][1000 genomes]
rs73861817	1.00[EUR][1000 genomes]
rs73861820	1.00[EUR][1000 genomes]
rs73861828	1.00[EUR][1000 genomes]
rs73861829	1.00[EUR][1000 genomes]
rs73861840	1.00[EUR][1000 genomes]
rs73861849	1.00[EUR][1000 genomes]
rs73861862	1.00[EUR][1000 genomes]
rs9968310	1.00[EUR][1000 genomes]
rs9991362	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1025192	chr4:152202627-152498890	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv537307	chr4:152202627-152498890	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv880624	chr4:152280646-152549112	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152328600-152331400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr4:152328800-152331600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr4:152328800-152332000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr4:152329000-152330800	Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr4:152329000-152331200	Active TSS	Brain Hippocampus Middle	brain
6	chr4:152329000-152331200	Active TSS	Stomach Mucosa	stomach
7	chr4:152329000-152331400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr4:152329000-152331400	Active TSS	Fetal Kidney	kidney
9	chr4:152329000-152331600	Active TSS	Gastric	stomach
10	chr4:152329000-152331800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:152329000-152331800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr4:152329000-152331800	Active TSS	Esophagus	oesophagus
13	chr4:152329000-152332000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr4:152329000-152333000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr4:152329200-152330800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:152329200-152330800	Active TSS	Brain Angular Gyrus	brain
17	chr4:152329200-152330800	Active TSS	Brain Anterior Caudate	brain
18	chr4:152329200-152330800	Active TSS	Brain Cingulate Gyrus	brain
19	chr4:152329200-152331400	Active TSS	Psoas Muscle	Psoas
20	chr4:152329200-152331600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:152329400-152330800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:152329400-152330800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:152329400-152330800	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr4:152329400-152330800	Bivalent/Poised TSS	NHLF	lung
25	chr4:152329400-152331000	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr4:152329400-152331200	Active TSS	Aorta	Aorta
27	chr4:152329400-152331200	Active TSS	Fetal Intestine Small	intestine
28	chr4:152329400-152331200	Active TSS	Right Atrium	heart
29	chr4:152329400-152332200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr4:152329600-152330800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr4:152329600-152330800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:152329600-152330800	Active TSS	Brain Substantia Nigra	brain
33	chr4:152329600-152330800	Active TSS	Lung	lung
34	chr4:152329600-152330800	Active TSS	A549	lung
35	chr4:152329600-152331000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:152329600-152331000	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr4:152329600-152331000	Active TSS	Placenta Amnion	Placenta Amnion
38	chr4:152329600-152331200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:152329600-152331200	Active TSS	Ovary	ovary
40	chr4:152329600-152331400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr4:152329600-152331400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:152329600-152331400	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr4:152329600-152331600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:152329600-152331600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:152329600-152331600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:152329600-152331600	Active TSS	Left Ventricle	heart
47	chr4:152329600-152331800	Active TSS	Pancreas	Pancrea
48	chr4:152329600-152331800	Active TSS	Right Ventricle	heart
49	chr4:152329600-152332200	Active TSS	H1 Cell Line	embryonic stem cell
50	chr4:152329800-152330800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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