Variant report

Variant	rs59189910
Chromosome Location	chr5:5419443-5419444
allele	C/T
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	EGR1	chr5:5419330-5419563	K562	blood:	n/a	chr5:5419505-5419519 chr5:5419505-5419518 chr5:5419506-5419517 chr5:5419501-5419523 chr5:5419505-5419518 chr5:5419507-5419517 chr5:5419507-5419517
2	RAD21	chr5:5419382-5419866	H1-hESC	embryonic stem cell:	n/a	chr5:5419650-5419669
3	RAD21	chr5:5419356-5419875	H1-hESC	embryonic stem cell:	n/a	chr5:5419650-5419669
4	RAD21	chr5:5419344-5419935	IMR90	lung:	n/a	chr5:5419650-5419669
5	CUX1	chr5:5419298-5420018	K562	blood:	n/a	n/a
6	CTCF	chr5:5419287-5420164	SK-N-SH	brain:	n/a	chr5:5419647-5419668
7	POLR2A	chr5:5419434-5419829	MCF10A-Er-Src	breast:	n/a	n/a
8	EBF1	chr5:5419377-5419693	GM12878	blood:	n/a	chr5:5419557-5419568
9	SMC3	chr5:5419412-5419867	GM12878	blood:	n/a	n/a
10	USF2	chr5:5419426-5419717	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr5:5419121-5419844	IMR90	lung:	n/a	n/a
12	CTCF	chr5:5419398-5419846	T-47D	breast:	n/a	chr5:5419647-5419668
13	TCF12	chr5:5419240-5419843	A549	lung:	n/a	n/a
14	ELK1	chr5:5419433-5419744	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr5:5419353-5419969	IMR90	lung:	n/a	chr5:5419647-5419668
16	SMC3	chr5:5419289-5419915	Hela-S3	cervix:	n/a	n/a
17	RAD21	chr5:5419396-5419985	MCF-7	breast:	n/a	chr5:5419650-5419669
18	CTCF	chr5:5419356-5419931	MCF-7	breast:	n/a	chr5:5419647-5419668
19	CTCF	chr5:5419410-5419912	A549	lung:	n/a	chr5:5419647-5419668
20	RAD21	chr5:5419289-5419923	HepG2	liver:	n/a	chr5:5419650-5419669
21	RAD21	chr5:5419310-5419918	MCF-7	breast:	n/a	chr5:5419650-5419669
22	CTCF	chr5:5419385-5419885	HepG2	liver:	n/a	chr5:5419647-5419668
23	CTCF	chr5:5419359-5419838	MCF-7	breast:	n/a	chr5:5419647-5419668
24	CTCF	chr5:5419440-5419590	HFF-Myc	foreskin:	n/a	n/a
25	E2F4	chr5:5419428-5419832	MCF10A-Er-Src	breast:	n/a	n/a
26	RAD21	chr5:5419394-5419833	A549	lung:	n/a	chr5:5419650-5419669
27	RAD21	chr5:5419207-5419887	HCT-116	colon:	n/a	chr5:5419650-5419669
28	SMC3	chr5:5419362-5419992	HepG2	liver:	n/a	n/a
29	RAD21	chr5:5419159-5420330	SK-N-SH	brain:	n/a	chr5:5419650-5419669
30	RAD21	chr5:5419330-5419881	SK-N-SH_RA	brain:	n/a	chr5:5419650-5419669
31	RAD21	chr5:5419310-5419893	ECC-1	luminal epithelium:	n/a	chr5:5419650-5419669
32	CTCF	chr5:5419398-5419924	HCT-116	colon:	n/a	chr5:5419647-5419668
33	CTCF	chr5:5419391-5419945	GM12878	blood:	n/a	chr5:5419647-5419668
34	RAD21	chr5:5419317-5419859	HCT-116	colon:	n/a	chr5:5419650-5419669
35	RAD21	chr5:5419243-5419907	H1-hESC	embryonic stem cell:	n/a	chr5:5419650-5419669
36	MYC	chr5:5419410-5419824	MCF10A-Er-Src	breast:	n/a	n/a
37	RAD21	chr5:5419398-5419780	HepG2	liver:	n/a	chr5:5419650-5419669
38	CTCF	chr5:5419430-5419823	K562	blood:	n/a	chr5:5419647-5419668
39	CTCF	chr5:5419415-5419993	HCT-116	colon:	n/a	chr5:5419647-5419668
40	RAD21	chr5:5419426-5419753	GM12878	blood:	n/a	chr5:5419650-5419669
41	CTCF	chr5:5419424-5419950	K562	blood:	n/a	chr5:5419647-5419668
42	RAD21	chr5:5419301-5419871	Hela-S3	cervix:	n/a	chr5:5419650-5419669
43	MAFK	chr5:5419285-5420030	Hela-S3	cervix:	n/a	chr5:5419405-5419416 chr5:5419403-5419417
44	RAD21	chr5:5419371-5419863	GM12878	blood:	n/a	chr5:5419650-5419669
45	EGR1	chr5:5419343-5419659	K562	blood:	n/a	chr5:5419505-5419519 chr5:5419505-5419518 chr5:5419506-5419517 chr5:5419501-5419523 chr5:5419505-5419518 chr5:5419507-5419517 chr5:5419507-5419517
46	RAD21	chr5:5419298-5419908	HepG2	liver:	n/a	chr5:5419650-5419669
47	MAFK	chr5:5419206-5419599	HepG2	liver:	n/a	chr5:5419405-5419416 chr5:5419403-5419417 chr5:5419239-5419259
48	MAFK	chr5:5419223-5419764	IMR90	lung:	n/a	chr5:5419405-5419416 chr5:5419403-5419417 chr5:5419239-5419259
49	RAD21	chr5:5419323-5419829	SK-N-SH_RA	brain:	n/a	chr5:5419650-5419669
50	SMC3	chr5:5419051-5420289	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:4879754..4880499-chr5:5419236..5419938,4	MCF-7	breast:
2	chr5:5141743..5142401-chr5:5419216..5419937,3	MCF-7	breast:
3	chr5:4879935..4880483-chr5:5419154..5420176,4	K562	blood:
4	chr5:4867970..4868923-chr5:5419207..5420088,3	K562	blood:
5	chr5:5141504..5142606-chr5:5419417..5420230,5	MCF-7	breast:
6	chr5:5141283..5143054-chr5:5417373..5419674,2	MCF-7	breast:
7	chr5:4867973..4868883-chr5:5419229..5420314,6	MCF-7	breast:
8	chr5:5141910..5142535-chr5:5419177..5419954,3	K562	blood:
9	chr5:4879524..4880513-chr5:5418753..5419946,13	MCF-7	breast:
10	chr5:4868033..4868931-chr5:5419203..5420050,4	MCF-7	breast:
11	chr5:5417546..5419989-chr5:5420908..5423417,2	MCF-7	breast:

Variant related genes	Relation type
KIAA0947	TF binding region
ENSG00000164151	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16875617	0.85[AMR][1000 genomes]
rs16875618	0.85[AMR][1000 genomes]
rs16900247	0.88[AMR][1000 genomes]
rs3806873	0.82[AMR][1000 genomes]
rs3806874	0.82[AMR][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	nsv1021802	chr5:5415877-5452886	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5402000-5420800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:5410000-5421000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:5412800-5421200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:5414800-5421000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr5:5414800-5421000	Weak transcription	Gastric	stomach
6	chr5:5415000-5421000	Weak transcription	Brain Anterior Caudate	brain
7	chr5:5415000-5421000	Weak transcription	Brain Germinal Matrix	brain
8	chr5:5415000-5421200	Weak transcription	Spleen	Spleen
9	chr5:5415200-5420400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:5415800-5421000	Weak transcription	Fetal Intestine Small	intestine
11	chr5:5416000-5421000	Weak transcription	Esophagus	oesophagus
12	chr5:5416200-5421200	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:5416200-5421600	Enhancers	NH-A	brain
14	chr5:5416400-5421000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr5:5416600-5421400	Weak transcription	Left Ventricle	heart
16	chr5:5416600-5421400	Weak transcription	Right Ventricle	heart
17	chr5:5417000-5421000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:5417000-5421000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:5417000-5421600	Weak transcription	Aorta	Aorta
20	chr5:5417200-5421000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:5417400-5420000	Weak transcription	Dnd41	blood
22	chr5:5417400-5421000	Weak transcription	Primary B cells from cord blood	blood
23	chr5:5417400-5421400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:5417600-5421000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr5:5418000-5420200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:5418200-5419600	Enhancers	Fetal Muscle Trunk	muscle
27	chr5:5418200-5420200	Enhancers	Fetal Muscle Leg	muscle
28	chr5:5418200-5421000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:5418200-5421000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:5418200-5421000	Weak transcription	Fetal Stomach	stomach
31	chr5:5418400-5419800	Enhancers	HSMM	muscle
32	chr5:5418400-5420800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:5418400-5421000	Weak transcription	Primary T cells from cord blood	blood
34	chr5:5418400-5421400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:5418400-5421400	Enhancers	Osteobl	bone
36	chr5:5418400-5421600	Enhancers	HSMMtube	muscle
37	chr5:5418600-5419800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:5418800-5419600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:5418800-5420400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:5419000-5419600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:5419000-5419600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:5419000-5419600	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr5:5419000-5419600	Enhancers	NHDF-Ad	bronchial
44	chr5:5419000-5420000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:5419000-5420200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr5:5419000-5420200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:5419000-5420200	Enhancers	HMEC	breast
48	chr5:5419000-5421000	Weak transcription	Placenta	Placenta
49	chr5:5419000-5421200	Enhancers	NHLF	lung
50	chr5:5419200-5419600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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