Variant report

Variant	rs72931227
Chromosome Location	chr4:125634958-125634959
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	CTCF	chr4:125634072-125635198	K562	blood:	n/a	chr4:125634920-125634928 chr4:125634640-125634649
2	POLR2A	chr4:125632539-125635092	K562	blood:	n/a	n/a
3	POLR2A	chr4:125632540-125634980	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr4:125633043-125634980	K562	blood:	n/a	n/a
5	EP300	chr4:125633650-125635108	K562	blood:	n/a	chr4:125633864-125633873 chr4:125634022-125634038 chr4:125634078-125634087 chr4:125633858-125633867 chr4:125633861-125633870
6	ZNF384	chr4:125633280-125635107	K562	blood:	n/a	n/a
7	IRF1	chr4:125632537-125635030	K562	blood:	n/a	chr4:125633989-125634003 chr4:125634146-125634160
8	REST	chr4:125632523-125634986	H1-neurons	neurons:	n/a	chr4:125634019-125634032 chr4:125633317-125633330 chr4:125633435-125633448 chr4:125633461-125633474 chr4:125633314-125633327
9	POLR2A	chr4:125632590-125635049	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F6	chr4:125633158-125635019	K562	blood:	n/a	chr4:125633861-125633871 chr4:125634151-125634161 chr4:125633789-125633799 chr4:125633858-125633868 chr4:125634078-125634087
11	POLR2A	chr4:125630918-125635206	K562	blood:	n/a	n/a
12	POLR2A	chr4:125633963-125634958	HUVEC	blood vessel:	n/a	n/a
13	MYC	chr4:125632504-125635011	K562	blood:	n/a	chr4:125634195-125634205 chr4:125633568-125633578 chr4:125634109-125634118
14	SIN3A	chr4:125632494-125634994	H1-hESC	embryonic stem cell:	n/a	chr4:125632773-125632782 chr4:125634024-125634035
15	POLR2A	chr4:125633003-125634975	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr4:125632373-125635021	HUVEC	blood vessel:	n/a	n/a
17	NFIC	chr4:125632577-125634993	SK-N-SH	brain:	n/a	chr4:125634888-125634904 chr4:125634887-125634904
18	MAX	chr4:125632499-125635027	HCT-116	colon:	n/a	chr4:125634195-125634205 chr4:125633568-125633578 chr4:125634109-125634118
19	IRF1	chr4:125632599-125635008	K562	blood:	n/a	chr4:125633989-125634003 chr4:125634146-125634160
20	POLR2A	chr4:125632552-125634979	Hela-S3	cervix:	n/a	n/a
21	MAZ	chr4:125632454-125634975	IMR90	lung:	n/a	chr4:125634195-125634205 chr4:125633568-125633578 chr4:125634109-125634118
22	CUX1	chr4:125634424-125635317	K562	blood:	n/a	n/a
23	POLR2A	chr4:125631874-125635067	MCF-7	breast:	n/a	n/a
24	MAX	chr4:125632917-125634990	A549	lung:	n/a	chr4:125634195-125634205 chr4:125633568-125633578 chr4:125634109-125634118
25	POLR2A	chr4:125630929-125635068	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr4:125632157-125635624	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr4:125632461-125635146	IMR90	lung:	n/a	n/a
28	CTCF	chr4:125634860-125635010	HRE	kidney:	n/a	chr4:125634920-125634928

No.	Distal block	Cell Line	Cell type
1	chr4:125607408..125609812-chr4:125634396..125636485,2	K562	blood:
2	chr4:125634057..125636507-chr4:125646321..125649119,3	MCF-7	breast:
3	chr4:125634681..125637272-chr4:125648619..125650581,2	MCF-7	breast:

Variant related genes	Relation type
ANKRD50	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10025996	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12507238	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12510154	0.98[EUR][1000 genomes]
rs17008498	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17008500	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17008503	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931230	0.90[AFR][1000 genomes]
rs72931232	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931241	0.90[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343011	chr4:125632527-125635375	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125630600-125635000	Active TSS	A549	lung
2	chr4:125630600-125635200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:125632000-125635000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:125632200-125635000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr4:125632200-125635000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:125632200-125635200	Active TSS	K562	blood
7	chr4:125632800-125635000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr4:125632800-125635000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr4:125634200-125635000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr4:125634200-125635000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr4:125634200-125635000	Flanking Active TSS	Dnd41	blood
12	chr4:125634200-125635000	Flanking Active TSS	NHDF-Ad	bronchial
13	chr4:125634200-125635200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:125634200-125635200	Flanking Active TSS	HUVEC	blood vessel
15	chr4:125634400-125635000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr4:125634400-125635000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:125634400-125635000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:125634400-125635000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:125634400-125635000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:125634400-125635000	Flanking Active TSS	Fetal Brain Male	brain
21	chr4:125634400-125635200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr4:125634400-125635200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr4:125634400-125635200	Flanking Active TSS	Fetal Brain Female	brain
24	chr4:125634600-125635000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:125634600-125635000	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr4:125634600-125635000	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr4:125634600-125635000	Enhancers	Fetal Heart	heart
28	chr4:125634600-125635000	Flanking Active TSS	HSMMtube	muscle
29	chr4:125634600-125635200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr4:125634600-125635200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr4:125634800-125635000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:125634800-125635000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:125634800-125635000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr4:125634800-125635000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr4:125634800-125635000	Enhancers	Primary B cells from cord blood	blood
36	chr4:125634800-125635000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr4:125634800-125635000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:125634800-125635000	Enhancers	Adipose Nuclei	Adipose
39	chr4:125634800-125635000	Enhancers	Brain Anterior Caudate	brain
40	chr4:125634800-125635000	Enhancers	Brain Hippocampus Middle	brain
41	chr4:125634800-125635000	Enhancers	Brain Substantia Nigra	brain
42	chr4:125634800-125635000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr4:125634800-125635000	Enhancers	Fetal Intestine Small	intestine
44	chr4:125634800-125635000	Flanking Active TSS	Fetal Kidney	kidney
45	chr4:125634800-125635000	Flanking Active TSS	Fetal Lung	lung
46	chr4:125634800-125635000	Enhancers	HepG2	liver
47	chr4:125634800-125635000	Active TSS	HMEC	breast
48	chr4:125634800-125635000	Flanking Active TSS	NHEK	skin
49	chr4:125634800-125635000	Active TSS	Osteobl	bone
50	chr4:125634800-125635200	Enhancers	H1 Cell Line	embryonic stem cell

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