Variant report

Variant	rs11573014
Chromosome Location	chr4:57977241-57977242
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	MAX	chr4:57976007-57977704	NB4	blood:	n/a	n/a
2	SPI1	chr4:57976891-57977329	HL-60	blood:	n/a	n/a
3	RAD21	chr4:57975818-57977524	IMR90	lung:	n/a	n/a
4	MAZ	chr4:57975533-57978084	IMR90	lung:	n/a	n/a
5	POLR2A	chr4:57972428-57977904	IMR90	lung:	n/a	n/a
6	SPI1	chr4:57976714-57977458	HL-60	blood:	n/a	n/a
7	POLR2A	chr4:57975464-57977315	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr4:57977160-57977310	HCPEpiC	choroid plexus:	n/a	n/a
9	RUNX3	chr4:57976876-57977263	GM12878	blood:	n/a	chr4:57977051-57977066
10	POLR2A	chr4:57977190-57977264	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD1	chr4:57973519-57977830	IMR90	lung:	n/a	n/a
12	BACH1	chr4:57976687-57977317	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr4:57976652-57977487	U87	brain:	n/a	n/a
14	ZNF263	chr4:57977199-57977614	HEK293-T-REx	kidney:	n/a	n/a
15	CTCF	chr4:57977240-57977390	HCPEpiC	choroid plexus:	n/a	n/a
16	POLR2A	chr4:57976115-57977705	U87	brain:	n/a	n/a
17	POLR2A	chr4:57976288-57977242	U87	brain:	n/a	n/a
18	POLR2A	chr4:57975161-57977444	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr4:57975484-57977753	HL-60	blood:	n/a	n/a
20	MYC	chr4:57976020-57977677	NB4	blood:	n/a	n/a
21	ZNF143	chr4:57977030-57977281	H1-hESC	embryonic stem cell:	n/a	chr4:57977131-57977149
22	WRNIP1	chr4:57977022-57977396	GM12878	blood:	n/a	n/a
23	CTBP2	chr4:57975585-57977526	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr4:57977180-57977330	NB4	blood:	n/a	n/a
25	POLR2A	chr4:57976014-57977520	NB4	blood:	n/a	n/a
26	KAP1	chr4:57977057-57977417	HEK293	kidney:	n/a	n/a
27	SIN3A	chr4:57976998-57977335	H1-hESC	embryonic stem cell:	n/a	n/a
28	SPI1	chr4:57976944-57977280	GM12878	blood:	n/a	n/a
29	POLR2A	chr4:57975736-57977586	HL-60	blood:	n/a	n/a
30	MXI1	chr4:57974888-57977913	IMR90	lung:	n/a	n/a
31	POLR2A	chr4:57976149-57977536	Gliobla	brain:	n/a	n/a
32	CTCF	chr4:57977200-57977350	HUVEC	blood vessel:	n/a	n/a
33	FOXP2	chr4:57977109-57977425	SK-N-MC	brain:	n/a	n/a
34	REST	chr4:57975591-57977728	HL-60	blood:	n/a	chr4:57976519-57976529 chr4:57977134-57977147 chr4:57977324-57977332 chr4:57976830-57976843
35	POLR2A	chr4:57975797-57977594	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
IGFBP7	TF binding region
ENSG00000238541	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10002669	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10013983	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573018	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28405417	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34816319	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611988	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67057259	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847938	1.00[ASN][1000 genomes]
rs71601676	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	esv3324890	chr4:57975020-57977568	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	3 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	chr4:57972400-57977800	Active TSS	Aorta	Aorta
2	chr4:57973200-57977600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:57973200-57977600	Active TSS	Psoas Muscle	Psoas
4	chr4:57973200-57977800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr4:57973400-57977600	Active TSS	Left Ventricle	heart
6	chr4:57973600-57977600	Active TSS	Right Ventricle	heart
7	chr4:57973600-57977800	Active TSS	Ovary	ovary
8	chr4:57973600-57977800	Active TSS	Right Atrium	heart
9	chr4:57973800-57977400	Active TSS	Brain Anterior Caudate	brain
10	chr4:57974200-57977800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:57974400-57977600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:57974600-57977400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:57974800-57977400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:57975000-57977400	Active TSS	Colon Smooth Muscle	Colon
15	chr4:57975000-57977600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:57975000-57977800	Active TSS	Brain Substantia Nigra	brain
17	chr4:57975000-57977800	Active TSS	NHDF-Ad	bronchial
18	chr4:57975200-57977600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr4:57975200-57977600	Active TSS	Brain Cingulate Gyrus	brain
20	chr4:57975200-57977600	Active TSS	Lung	lung
21	chr4:57975400-57977400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr4:57975400-57977600	Active TSS	Brain Angular Gyrus	brain
23	chr4:57975600-57977400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr4:57975600-57977600	Active TSS	Gastric	stomach
25	chr4:57975800-57977400	Flanking Active TSS	HMEC	breast
26	chr4:57975800-57977400	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr4:57975800-57977600	Active TSS	Primary T cells from cord blood	blood
28	chr4:57975800-57977600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
29	chr4:57975800-57977800	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr4:57976000-57977400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
31	chr4:57976000-57977400	Active TSS	Primary monocytes fromperipheralblood	blood
32	chr4:57976000-57977600	Bivalent/Poised TSS	HepG2	liver
33	chr4:57976200-57977400	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:57976200-57977400	Active TSS	Duodenum Mucosa	Duodenum
35	chr4:57976200-57977400	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr4:57976200-57977800	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr4:57976200-57977800	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr4:57976400-57977400	Active TSS	Pancreas	Pancrea
39	chr4:57976400-57977600	Active TSS	Colonic Mucosa	Colon
40	chr4:57976400-57977600	Bivalent/Poised TSS	Thymus	Thymus
41	chr4:57976400-57977800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:57976400-57978000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:57976600-57977600	Enhancers	Spleen	Spleen
44	chr4:57976600-57977800	Active TSS	Stomach Smooth Muscle	stomach
45	chr4:57976600-57978000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr4:57976600-57979000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:57976600-57979200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:57976800-57977400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:57976800-57977400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:57976800-57977400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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