Variant report

Variant	rs17057326
Chromosome Location	chr3:56836435-56836436
allele	G/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	TBL1XR1	chr3:56836116-56836544	K562	blood:	n/a	n/a
2	MAZ	chr3:56835861-56836542	GM12878	blood:	n/a	chr3:56836079-56836086 chr3:56836077-56836087 chr3:56836118-56836127 chr3:56836031-56836041 chr3:56836076-56836085 chr3:56836078-56836087 chr3:56836077-56836088
3	MAX	chr3:56835719-56836456	K562	blood:	n/a	chr3:56836079-56836086 chr3:56836077-56836087 chr3:56836118-56836127 chr3:56836031-56836041 chr3:56836076-56836085 chr3:56836078-56836087 chr3:56836077-56836088
4	JUND	chr3:56836229-56836507	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr3:56836214-56836437	GM19239	blood:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
6	CTCF	chr3:56836252-56836456	HUVEC	blood vessel:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
7	RCOR1	chr3:56835852-56836445	K562	blood:	n/a	n/a
8	MAZ	chr3:56835442-56836523	IMR90	lung:	n/a	chr3:56836079-56836086 chr3:56836077-56836087 chr3:56836118-56836127 chr3:56836031-56836041 chr3:56836076-56836085 chr3:56836078-56836087 chr3:56836077-56836088
9	MAX	chr3:56835480-56836515	HepG2	liver:	n/a	chr3:56836079-56836086 chr3:56836077-56836087 chr3:56836118-56836127 chr3:56836031-56836041 chr3:56836076-56836085 chr3:56836078-56836087 chr3:56836077-56836088
10	CTCF	chr3:56836300-56836450	AG10803	skin:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
11	SP1	chr3:56835772-56836511	GM12878	blood:	n/a	chr3:56836034-56836043 chr3:56835992-56836004 chr3:56836032-56836044 chr3:56836032-56836044 chr3:56836279-56836293 chr3:56835992-56836004 chr3:56836033-56836042 chr3:56836115-56836125
12	CTBP2	chr3:56835709-56836509	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr3:56835755-56836482	H1-hESC	embryonic stem cell:	n/a	chr3:56836079-56836086 chr3:56836077-56836087 chr3:56836118-56836127 chr3:56836031-56836041 chr3:56836076-56836085 chr3:56836078-56836087 chr3:56836077-56836088
14	CEBPB	chr3:56836234-56836540	H1-hESC	embryonic stem cell:	n/a	n/a
15	GTF2F1	chr3:56836173-56836745	Hela-S3	cervix:	n/a	n/a
16	RAD21	chr3:56836089-56836555	GM12878	blood:	n/a	chr3:56836323-56836342 chr3:56836332-56836341
17	CTCF	chr3:56835776-56836574	GM12878	blood:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
18	CTCF	chr3:56836300-56836450	HA-sp	spinal cord:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
19	ELF1	chr3:56836163-56836437	HepG2	liver:	n/a	n/a
20	CTCF	chr3:56836300-56836450	GM12872	blood:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
21	CTCF	chr3:56836215-56836437	MCF-7	breast:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
22	CTCF	chr3:56836016-56836672	HCT-116	colon:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
23	CTCF	chr3:56836213-56836450	GM12891	blood:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
24	E2F4	chr3:56835813-56836441	MCF10A-Er-Src	breast:	n/a	chr3:56836033-56836042
25	ZNF143	chr3:56836148-56836514	K562	blood:	n/a	n/a
26	E2F6	chr3:56835743-56836510	H1-hESC	embryonic stem cell:	n/a	chr3:56836033-56836042
27	TBL1XR1	chr3:56835886-56836632	GM12878	blood:	n/a	n/a
28	MAX	chr3:56835629-56836521	H1-hESC	embryonic stem cell:	n/a	chr3:56836079-56836086 chr3:56836077-56836087 chr3:56836118-56836127 chr3:56836031-56836041 chr3:56836076-56836085 chr3:56836078-56836087 chr3:56836077-56836088
29	CTCF	chr3:56836139-56836546	A549	lung:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
30	SP1	chr3:56835725-56836516	H1-hESC	embryonic stem cell:	n/a	chr3:56836034-56836043 chr3:56835992-56836004 chr3:56836032-56836044 chr3:56836032-56836044 chr3:56836279-56836293 chr3:56835992-56836004 chr3:56836033-56836042 chr3:56836115-56836125
31	RAD21	chr3:56836013-56836543	H1-hESC	embryonic stem cell:	n/a	chr3:56836323-56836342 chr3:56836332-56836341
32	CTCF	chr3:56836204-56836439	Pancreas_OC	pancreas:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
33	CTCF	chr3:56835779-56836542	K562	blood:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
34	MAX	chr3:56835701-56836531	HCT-116	colon:	n/a	chr3:56836079-56836086 chr3:56836077-56836087 chr3:56836118-56836127 chr3:56836031-56836041 chr3:56836076-56836085 chr3:56836078-56836087 chr3:56836077-56836088
35	CTCF	chr3:56836204-56836472	Gliobla	brain:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
36	RAD21	chr3:56836176-56836469	A549	lung:	n/a	chr3:56836323-56836342 chr3:56836332-56836341
37	TCF7L2	chr3:56836156-56836448	Hela-S3	cervix:	n/a	n/a
38	TBP	chr3:56835838-56836475	GM12878	blood:	n/a	n/a
39	E2F6	chr3:56835831-56836487	A549	lung:	n/a	chr3:56836033-56836042
40	MAX	chr3:56835728-56836443	ECC-1	luminal epithelium:	n/a	chr3:56836079-56836086 chr3:56836077-56836087 chr3:56836118-56836127 chr3:56836031-56836041 chr3:56836076-56836085 chr3:56836078-56836087 chr3:56836077-56836088
41	RAD21	chr3:56835651-56836481	IMR90	lung:	n/a	chr3:56836323-56836342 chr3:56836332-56836341
42	SMC3	chr3:56836164-56836446	K562	blood:	n/a	chr3:56836327-56836341
43	CTCF	chr3:56836300-56836450	NHEK	skin:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
44	CTCF	chr3:56836242-56836447	HepG2	liver:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
45	CTCF	chr3:56836223-56836449	GM10266	blood:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
46	RFX5	chr3:56835814-56836475	Hela-S3	cervix:	n/a	n/a
47	RAD21	chr3:56835977-56836490	A549	lung:	n/a	chr3:56836323-56836342 chr3:56836332-56836341
48	RAD21	chr3:56836029-56836572	ECC-1	luminal epithelium:	n/a	chr3:56836323-56836342 chr3:56836332-56836341
49	CTCF	chr3:56836018-56836550	K562	blood:	n/a	chr3:56836325-56836343 chr3:56836320-56836341
50	RAD21	chr3:56835867-56836660	HCT-116	colon:	n/a	chr3:56836323-56836342 chr3:56836332-56836341

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:56716275..56717973-chr3:56833928..56836671,2	K562	blood:

Variant related genes	Relation type
ARHGEF3	TF binding region
ENSG00000163946	Chromatin interaction

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

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

rs_ID	r²[population]
rs12636108	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13434307	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057321	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6803697	0.81[ASN][1000 genomes]
rs9832249	0.81[ASN][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	nsv876818	chr3:56805376-56924711	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56832400-56836600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr3:56832800-56836600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:56833400-56836600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:56834400-56836600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr3:56834400-56836600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:56834400-56836600	Active TSS	NHLF	lung
7	chr3:56834400-56836800	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr3:56834600-56836600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:56834600-56836600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:56834800-56836600	Active TSS	Fetal Kidney	kidney
11	chr3:56834800-56836600	Active TSS	Placenta Amnion	Placenta Amnion
12	chr3:56835000-56836600	Active TSS	Psoas Muscle	Psoas
13	chr3:56835000-56836600	Active TSS	HSMMtube	muscle
14	chr3:56835200-56836600	Active TSS	A549	lung
15	chr3:56835400-56836600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:56835400-56836600	Active TSS	Brain Anterior Caudate	brain
17	chr3:56835400-56836600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr3:56835400-56836600	Active TSS	Brain Substantia Nigra	brain
19	chr3:56835400-56836800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:56835400-56836800	Active TSS	Fetal Brain Female	brain
21	chr3:56835400-56836800	Active TSS	NHEK	skin
22	chr3:56835600-56836600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr3:56835600-56836600	Active TSS	Brain Angular Gyrus	brain
24	chr3:56835600-56836600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr3:56835600-56836600	Active TSS	Rectal Smooth Muscle	rectum
26	chr3:56835600-56836600	Active TSS	K562	blood
27	chr3:56835800-56836600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:56835800-56836600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:56835800-56836600	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr3:56835800-56836600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:56835800-56836600	Active TSS	Duodenum Mucosa	Duodenum
32	chr3:56835800-56836600	Active TSS	Right Atrium	heart
33	chr3:56835800-56836600	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr3:56836000-56836600	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr3:56836000-56836600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr3:56836000-56836600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr3:56836000-56840200	Weak transcription	Fetal Heart	heart
38	chr3:56836200-56836600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:56836200-56836600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr3:56836200-56836600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr3:56836200-56836600	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr3:56836200-56836600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr3:56836200-56836600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:56836200-56836600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:56836200-56836600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:56836200-56836600	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr3:56836200-56836600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr3:56836200-56836600	Flanking Active TSS	Fetal Brain Male	brain
49	chr3:56836200-56836600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr3:56836200-56836600	Flanking Active TSS	Stomach Smooth Muscle	stomach

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