Variant report

Variant	rs56201232
Chromosome Location	chr5:107008941-107008942
allele	A/C
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	SP1	chr5:107006988-107009816	A549	lung:	n/a	chr5:107008046-107008055 chr5:107008046-107008056 chr5:107008417-107008429 chr5:107008419-107008428 chr5:107008424-107008433 chr5:107009058-107009070 chr5:107008047-107008056 chr5:107008412-107008426 chr5:107008045-107008057 chr5:107008425-107008434 chr5:107008045-107008057 chr5:107009059-107009069 chr5:107009058-107009070 chr5:107008405-107008415 chr5:107009060-107009069 chr5:107008049-107008063 chr5:107009059-107009068 chr5:107008417-107008429
2	SIN3A	chr5:107004143-107009658	H1-hESC	embryonic stem cell:	n/a	chr5:107006662-107006673 chr5:107007128-107007141 chr5:107008731-107008740 chr5:107006059-107006068 chr5:107007404-107007415 chr5:107007253-107007266
3	MAX	chr5:107006926-107009772	ECC-1	luminal epithelium:	n/a	chr5:107008043-107008052 chr5:107007511-107007518 chr5:107008046-107008056
4	POLR2A	chr5:107007017-107009361	HEK293	kidney:	n/a	n/a
5	TCF7L2	chr5:107006703-107009616	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr5:107006864-107009954	A549	lung:	n/a	chr5:107009562-107009571 chr5:107007948-107007958 chr5:107008477-107008490 chr5:107009529-107009545
7	SIN3AK20	chr5:107006749-107009091	MCF-7	breast:	n/a	n/a
8	BACH1	chr5:107007187-107008954	H1-hESC	embryonic stem cell:	n/a	n/a
9	SMC3	chr5:107006964-107009788	Hela-S3	cervix:	n/a	n/a
10	MAX	chr5:107005867-107009014	HCT-116	colon:	n/a	chr5:107008043-107008052 chr5:107006621-107006631 chr5:107007511-107007518 chr5:107008046-107008056
11	PML	chr5:107008854-107009763	GM12878	blood:	n/a	n/a
12	MAX	chr5:107005041-107009765	A549	lung:	n/a	chr5:107008043-107008052 chr5:107006621-107006631 chr5:107007511-107007518 chr5:107008046-107008056
13	MYC	chr5:107005922-107009065	A549	lung:	n/a	chr5:107008043-107008052 chr5:107006621-107006631 chr5:107007511-107007518 chr5:107008046-107008056
14	MTA3	chr5:107008328-107009057	GM12878	blood:	n/a	n/a
15	MAX	chr5:107006626-107008969	SK-N-SH	brain:	n/a	chr5:107008043-107008052 chr5:107007511-107007518 chr5:107008046-107008056
16	HA-E2F1	chr5:107005127-107009710	MCF-7	breast:	n/a	chr5:107007775-107007782 chr5:107005769-107005777 chr5:107006894-107006901 chr5:107006120-107006130 chr5:107007250-107007260 chr5:107006119-107006128 chr5:107007775-107007782 chr5:107007774-107007783 chr5:107005379-107005393 chr5:107006659-107006669 chr5:107009059-107009068 chr5:107005382-107005396 chr5:107006656-107006666 chr5:107007771-107007783 chr5:107007775-107007782 chr5:107005769-107005777 chr5:107006034-107006046 chr5:107005769-107005776 chr5:107006089-107006098
17	MXI1	chr5:107005903-107009840	IMR90	lung:	n/a	chr5:107008192-107008201 chr5:107008504-107008513 chr5:107006889-107006904
18	SMARCC2	chr5:107008208-107009691	Hela-S3	cervix:	n/a	n/a
19	CTBP2	chr5:107005023-107009734	H1-hESC	embryonic stem cell:	n/a	n/a
20	MXI1	chr5:107005703-107009654	GM12878	blood:	n/a	chr5:107008192-107008201 chr5:107008504-107008513 chr5:107006889-107006904
21	ZNF263	chr5:107006585-107009759	HEK293-T-REx	kidney:	n/a	chr5:107007686-107007707
22	SP1	chr5:107007318-107009009	A549	lung:	n/a	chr5:107008046-107008055 chr5:107008046-107008056 chr5:107008417-107008429 chr5:107008419-107008428 chr5:107008424-107008433 chr5:107008047-107008056 chr5:107008412-107008426 chr5:107008045-107008057 chr5:107008425-107008434 chr5:107008045-107008057 chr5:107008405-107008415 chr5:107008049-107008063 chr5:107008417-107008429
23	EBF1	chr5:107006846-107009752	GM12878	blood:	n/a	chr5:107009370-107009381 chr5:107009332-107009342 chr5:107009331-107009344 chr5:107009333-107009342 chr5:107009333-107009343
24	POLR2A	chr5:107005295-107009089	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr5:107007276-107008950	H1-neurons	neurons:	n/a	n/a
26	MAZ	chr5:107005857-107009762	IMR90	lung:	n/a	chr5:107008043-107008052 chr5:107006621-107006631 chr5:107007511-107007518 chr5:107008046-107008056
27	POLR2A	chr5:107006112-107009810	MCF10A-Er-Src	breast:	n/a	n/a
28	MXI1	chr5:107007770-107009002	H1-hESC	embryonic stem cell:	n/a	chr5:107008192-107008201 chr5:107008504-107008513
29	MAX	chr5:107007658-107009596	GM12878	blood:	n/a	chr5:107008043-107008052 chr5:107008046-107008056
30	MAZ	chr5:107007630-107009679	GM12878	blood:	n/a	chr5:107008043-107008052 chr5:107008046-107008056
31	POLR2A	chr5:107006995-107009655	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr5:107007761-107009458	MCF-7	breast:	n/a	n/a
33	RAD21	chr5:107003937-107010170	SK-N-SH	brain:	n/a	chr5:107007238-107007250 chr5:107006656-107006670
34	SMARCC1	chr5:107006939-107009670	Hela-S3	cervix:	n/a	n/a
35	MYC	chr5:107008147-107008962	MCF10A-Er-Src	breast:	n/a	n/a
36	RAD21	chr5:107008006-107009757	IMR90	lung:	n/a	n/a
37	CTCF	chr5:107008820-107008970	WI-38	lung:	n/a	n/a
38	STAT1	chr5:107008786-107009689	GM12878	blood:	n/a	chr5:107009642-107009653
39	TBP	chr5:107007338-107008974	Hela-S3	cervix:	n/a	n/a
40	SIN3AK20	chr5:107008907-107009403	PANC-1	pancreas:	n/a	n/a
41	MAX	chr5:107008392-107008954	SK-N-SH	brain:	n/a	n/a
42	CTCF	chr5:107008222-107010148	SK-N-SH	brain:	n/a	chr5:107009562-107009571 chr5:107008477-107008490 chr5:107009529-107009545
43	RFX5	chr5:107007208-107009766	Hela-S3	cervix:	n/a	chr5:107007574-107007583
44	MAX	chr5:107005870-107009842	HCT-116	colon:	n/a	chr5:107008043-107008052 chr5:107006621-107006631 chr5:107007511-107007518 chr5:107008046-107008056
45	MAX	chr5:107007019-107009634	A549	lung:	n/a	chr5:107008043-107008052 chr5:107007511-107007518 chr5:107008046-107008056
46	TCF12	chr5:107006835-107009890	A549	lung:	n/a	chr5:107008312-107008321
47	MXI1	chr5:107003908-107009975	SK-N-SH	brain:	n/a	chr5:107008192-107008201 chr5:107008504-107008513 chr5:107006889-107006904
48	MAX	chr5:107006021-107009728	MCF-7	breast:	n/a	chr5:107008043-107008052 chr5:107006621-107006631 chr5:107007511-107007518 chr5:107008046-107008056
49	FOSL2	chr5:107008237-107009734	A549	lung:	n/a	n/a
50	E2F4	chr5:107007242-107009026	MCF10A-Er-Src	breast:	n/a	chr5:107007775-107007782 chr5:107007250-107007260 chr5:107007775-107007782 chr5:107007774-107007783 chr5:107007771-107007783 chr5:107007775-107007782

No.	Distal block	Cell Line	Cell type
1	chr5:106438990..106441364-chr5:107007772..107009984,2	MCF-7	breast:
2	chr17:64618740..64621100-chr5:107008124..107011007,2	MCF-7	breast:
3	chr5:106993178..106995868-chr5:107006750..107009458,3	MCF-7	breast:
4	chr5:106763769..106766443-chr5:107007401..107010371,2	MCF-7	breast:
5	chr5:105576046..105579020-chr5:107007759..107009407,2	MCF-7	breast:
6	chr5:107005443..107007436-chr5:107008039..107010506,2	MCF-7	breast:
7	chr15:68132685..68133223-chr5:107008261..107008953,2	Hela-S3	cervix:
8	chr5:107007871..107009484-chr5:107016086..107018030,2	MCF-7	breast:
9	chr19:41731945..41732746-chr5:107008719..107009514,2	Hela-S3	cervix:
10	chr5:106186315..106188102-chr5:107007477..107009162,2	MCF-7	breast:
11	chr5:106893133..106894878-chr5:107007816..107009967,2	MCF-7	breast:
12	chr5:106796505..106798929-chr5:107006795..107009330,2	MCF-7	breast:
13	chr12:50794819..50795430-chr5:107008783..107009636,2	Hela-S3	cervix:

Variant related genes	Relation type
EFNA5	TF binding region
ENSG00000184349	Chromatin interaction
ENSG00000167601	Chromatin interaction
ENSG00000161813	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10045032	0.89[ASN][1000 genomes]
rs11960012	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12658128	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1304902	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1490827	0.94[ASN][1000 genomes]
rs1559244	0.83[ASN][1000 genomes]
rs1559245	0.90[ASN][1000 genomes]
rs4957708	0.80[ASN][1000 genomes]
rs4957709	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62357894	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73200667	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs923622	0.93[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	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr5:107002400-107009600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:107002400-107009800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:107003000-107009600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:107003000-107009600	Active TSS	A549	lung
5	chr5:107003200-107009600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:107003800-107009600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:107003800-107009600	Active TSS	NHDF-Ad	bronchial
8	chr5:107004000-107009000	Active TSS	Left Ventricle	heart
9	chr5:107004000-107009400	Active TSS	Placenta Amnion	Placenta Amnion
10	chr5:107004000-107009600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:107004000-107009600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr5:107004000-107009600	Active TSS	Aorta	Aorta
13	chr5:107004000-107009600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr5:107004000-107009600	Active TSS	Right Atrium	heart
15	chr5:107004200-107009400	Active TSS	NHLF	lung
16	chr5:107004200-107009600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:107004200-107009600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr5:107004200-107009600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:107004400-107009600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:107004400-107009600	Active TSS	Brain Anterior Caudate	brain
21	chr5:107004400-107009600	Active TSS	Rectal Smooth Muscle	rectum
22	chr5:107004600-107009000	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr5:107004600-107009400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:107004600-107009400	Active TSS	Gastric	stomach
25	chr5:107004600-107009600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr5:107004600-107009600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:107004600-107009600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:107004600-107009600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:107004600-107009600	Active TSS	Fetal Kidney	kidney
30	chr5:107004600-107009600	Active TSS	Fetal Lung	lung
31	chr5:107004600-107009600	Active TSS	Stomach Mucosa	stomach
32	chr5:107004800-107009400	Active TSS	Ovary	ovary
33	chr5:107004800-107009600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr5:107004800-107009600	Active TSS	Esophagus	oesophagus
35	chr5:107005000-107009600	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr5:107005000-107009600	Active TSS	HSMMtube	muscle
37	chr5:107005200-107009400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:107005200-107009600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr5:107005200-107009600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:107005200-107009600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:107005200-107009600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr5:107005200-107009600	Active TSS	Brain Angular Gyrus	brain
43	chr5:107005400-107009000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr5:107005400-107009600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:107005400-107009600	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr5:107005600-107009200	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr5:107006000-107009600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:107006400-107009600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:107006400-107009600	Active TSS	Colon Smooth Muscle	Colon
50	chr5:107006400-107009600	Active TSS	Fetal Stomach	stomach

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