Variant report

Variant	rs2293360
Chromosome Location	chr2:54196772-54196773
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	PAX5	chr2:54196540-54196787	GM12878	blood:	n/a	n/a
2	FOXA1	chr2:54196356-54196822	HepG2	liver:	n/a	chr2:54196617-54196632
3	POLR2A	chr2:54195426-54199062	MCF10A-Er-Src	breast:	n/a	n/a
4	RAD21	chr2:54196385-54197303	IMR90	lung:	n/a	n/a
5	FOXA1	chr2:54196432-54196815	T-47D	breast:	n/a	chr2:54196617-54196632
6	FOSL1	chr2:54196211-54196901	HCT-116	colon:	n/a	chr2:54196588-54196596 chr2:54196588-54196596 chr2:54196584-54196595 chr2:54196589-54196596 chr2:54196587-54196597
7	JUND	chr2:54196415-54196806	A549	lung:	n/a	chr2:54196588-54196596 chr2:54196588-54196596 chr2:54196584-54196595 chr2:54196589-54196596 chr2:54196587-54196597 chr2:54196586-54196597
8	NFIC	chr2:54196219-54196893	HepG2	liver:	n/a	n/a
9	FOXA2	chr2:54196294-54196905	A549	lung:	n/a	n/a
10	MXI1	chr2:54196383-54198843	HepG2	liver:	n/a	n/a
11	MYC	chr2:54196475-54196862	NB4	blood:	n/a	chr2:54196587-54196596
12	EBF1	chr2:54196510-54196800	GM12878	blood:	n/a	n/a
13	MAZ	chr2:54196534-54196773	K562	blood:	n/a	chr2:54196587-54196596
14	GATA3	chr2:54196322-54196990	MCF-7	breast:	n/a	n/a
15	STAT5A	chr2:54196344-54196880	K562	blood:	n/a	n/a
16	MXI1	chr2:54196525-54196854	K562	blood:	n/a	n/a
17	SIN3AK20	chr2:54196490-54196822	SK-N-SH	brain:	n/a	n/a
18	JUN	chr2:54196430-54196821	HepG2	liver:	n/a	chr2:54196588-54196596 chr2:54196588-54196596 chr2:54196584-54196595 chr2:54196589-54196596 chr2:54196587-54196597
19	MAX	chr2:54196480-54196806	NB4	blood:	n/a	chr2:54196587-54196596
20	ARID3A	chr2:54196258-54196825	HepG2	liver:	n/a	chr2:54196468-54196484 chr2:54196467-54196483
21	FOS	chr2:54196363-54196803	MCF10A-Er-Src	breast:	n/a	chr2:54196586-54196597 chr2:54196588-54196596 chr2:54196588-54196596 chr2:54196584-54196595 chr2:54196589-54196596 chr2:54196587-54196597
22	BACH1	chr2:54196166-54196826	K562	blood:	n/a	chr2:54196585-54196599
23	GATA3	chr2:54196434-54196808	T-47D	breast:	n/a	n/a
24	MAFK	chr2:54196404-54196844	HepG2	liver:	n/a	chr2:54196587-54196602 chr2:54196603-54196618 chr2:54196589-54196598 chr2:54196582-54196602
25	MYC	chr2:54196468-54198557	K562	blood:	n/a	chr2:54196587-54196596
26	EP300	chr2:54196381-54196806	Hela-S3	cervix:	n/a	chr2:54196499-54196513
27	MXI1	chr2:54196488-54198519	Hela-S3	cervix:	n/a	n/a
28	MAFK	chr2:54196386-54197022	K562	blood:	n/a	chr2:54196587-54196602 chr2:54196603-54196618 chr2:54196589-54196598 chr2:54196582-54196602
29	RFX5	chr2:54196438-54196796	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr2:54196335-54196792	K562	blood:	n/a	chr2:54196711-54196723
31	POLR2A	chr2:54195526-54196830	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:54196460-54197128	K562	blood:	n/a	chr2:54196711-54196723
33	FOXA1	chr2:54196301-54196875	HepG2	liver:	n/a	chr2:54196617-54196632
34	MAFK	chr2:54196416-54196779	IMR90	lung:	n/a	chr2:54196587-54196602 chr2:54196603-54196618 chr2:54196589-54196598 chr2:54196582-54196602
35	CEBPB	chr2:54196422-54196805	MCF-7	breast:	n/a	chr2:54196711-54196723
36	FOS	chr2:54196329-54196790	MCF10A-Er-Src	breast:	n/a	chr2:54196586-54196597 chr2:54196588-54196596 chr2:54196588-54196596 chr2:54196584-54196595 chr2:54196589-54196596 chr2:54196587-54196597
37	FOSL2	chr2:54196267-54196876	SK-N-SH	brain:	n/a	chr2:54196587-54196598 chr2:54196588-54196596 chr2:54196588-54196596 chr2:54196584-54196595 chr2:54196589-54196596 chr2:54196587-54196597
38	RCOR1	chr2:54196390-54196813	K562	blood:	n/a	n/a
39	JUN	chr2:54196324-54196785	K562	blood:	n/a	chr2:54196588-54196596 chr2:54196588-54196596 chr2:54196584-54196595 chr2:54196589-54196596 chr2:54196587-54196597
40	FOSL2	chr2:54196327-54196875	MCF-7	breast:	n/a	chr2:54196587-54196598 chr2:54196588-54196596 chr2:54196588-54196596 chr2:54196584-54196595 chr2:54196589-54196596 chr2:54196587-54196597
41	HCFC1	chr2:54196346-54196864	K562	blood:	n/a	n/a
42	FOXA1	chr2:54196440-54196788	HepG2	liver:	n/a	chr2:54196617-54196632
43	MAFK	chr2:54196441-54196776	H1-hESC	embryonic stem cell:	n/a	chr2:54196587-54196602 chr2:54196603-54196618 chr2:54196589-54196598 chr2:54196582-54196602
44	STAT3	chr2:54196481-54196808	MCF10A-Er-Src	breast:	n/a	n/a
45	JUND	chr2:54196430-54196789	HepG2	liver:	n/a	chr2:54196588-54196596 chr2:54196588-54196596 chr2:54196584-54196595 chr2:54196589-54196596 chr2:54196587-54196597 chr2:54196586-54196597
46	ZNF384	chr2:54196504-54197170	K562	blood:	n/a	n/a
47	POLR2A	chr2:54195490-54199155	PBDE	blood:	n/a	n/a
48	TBL1XR1	chr2:54196197-54197202	K562	blood:	n/a	n/a
49	POLR2A	chr2:54196451-54198831	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr2:54196366-54196799	A549	lung:	n/a	chr2:54196711-54196723

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54196757-54196807	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:54196757-54196807	HCM	heart:	n/a
3	chr2:54196757-54196807	A549	lung:	n/a
4	chr2:54196757-54196807	Caco-2	colon:	n/a
5	chr2:54196757-54196807	BE2_C	brain:	n/a
6	chr2:54196757-54196807	HEEpiC	esophagus:	n/a
7	chr2:54196757-54196807	GM19239	blood:	n/a
8	chr2:54196757-54196807	AG09309	skin:	n/a
9	chr2:54196757-54196807	RPTEC	kidney:	n/a
10	chr2:54196757-54196807	HCF	heart:	n/a
11	chr2:54196757-54196807	K562	blood:	n/a
12	chr2:54196757-54196807	AG09319	gingival:	n/a
13	chr2:54196757-54196807	HCPEpiC	choroid plexus:	n/a
14	chr2:54196757-54196807	IMR90	lung:	fetal
15	chr2:54196757-54196807	HRE	kidney:	n/a
16	chr2:54196757-54196807	HCT-116	colon:	n/a
17	chr2:54196757-54196807	ECC-1	luminal epithelium:	n/a
18	chr2:54196757-54196807	GM12891	blood:	n/a
19	chr2:54196757-54196807	PrEC	prostate:	n/a
20	chr2:54196757-54196807	AG04449	skin:	fetal
21	chr2:54196757-54196807	NHBE	bronchial:	n/a
22	chr2:54196757-54196807	HepG2	liver:	n/a
23	chr2:54196757-54196807	AG04450	lung:	fetal
24	chr2:54196757-54196807	HEK293	kidney:	embryo
25	chr2:54196757-54196807	GM12892	blood:	n/a
26	chr2:54196757-54196807	ovcar-3	ovarian:	n/a
27	chr2:54196757-54196807	NHDF-neo	bronchial:	n/a
28	chr2:54196757-54196807	MCF-7	breast:	n/a
29	chr2:54196757-54196807	U87	brain:	n/a
30	chr2:54196757-54196807	NB4	blood:	n/a
31	chr2:54196757-54196807	HAEpiC	amniotic membrane:	n/a
32	chr2:54196757-54196807	HMEC	breast:	n/a
33	chr2:54196757-54196807	Jurkat	blood:	n/a
34	chr2:54196757-54196807	PFSK-1	brain:	n/a
35	chr2:54196757-54196807	HL-60	blood:	n/a
36	chr2:54196757-54196807	H1-hESC	embryonic stem cell:	embryo
37	chr2:54196757-54196807	HNPCEpiC	eye:	n/a
38	chr2:54196757-54196807	NH-A	brain:	n/a
39	chr2:54196757-54196807	MCF10A-Er-Src	breast:	n/a
40	chr2:54196757-54196807	HRPEpiC	eye:	n/a
41	chr2:54196757-54196807	SK-N-MC	brain:	n/a
42	chr2:54196757-54196807	HUVEC	blood vessel:	n/a
43	chr2:54196757-54196807	NT2-D1	testis:	n/a
44	chr2:54196757-54196807	Hela-S3	cervix:	n/a
45	chr2:54196757-54196807	LNCaP	prostate:	n/a
46	chr2:54196757-54196807	HIPEpiC	eye:	n/a
47	chr2:54196757-54196807	T-47D	breast:	n/a
48	chr2:54196757-54196807	AG10803	skin:	n/a
49	chr2:54196757-54196807	ProgFib	skin:	n/a
50	chr2:54196757-54196807	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30583021..30583813-chr2:54196749..54197540,2	Hela-S3	cervix:
2	chr2:54174064..54177025-chr2:54196606..54198334,2	K562	blood:
3	chr2:54195012..54197478-chr2:54219368..54222229,2	K562	blood:
4	chr2:54185625..54188123-chr2:54194333..54197670,3	MCF-7	breast:
5	chr2:54195792..54198215-chr2:55457941..55460893,2	K562	blood:
6	chr2:54184275..54188127-chr2:54193177..54197889,6	K562	blood:
7	chr2:54157567..54166967-chr2:54194910..54201681,12	MCF-7	breast:
8	chr2:54196188..54197004-chr20:2451334..2451980,2	NB4	blood:
9	chr2:54196743..54198781-chr2:54341566..54344110,2	K562	blood:
10	chr2:54196421..54198197-chr2:55274517..55277399,2	MCF-7	breast:
11	chr2:54195961..54197468-chr2:54240342..54242610,2	MCF-7	breast:
12	chr2:54194885..54197429-chr2:55459526..55461126,2	MCF-7	breast:
13	chr2:54194904..54197235-chr2:54307312..54309509,2	K562	blood:
14	chr2:54196664..54197534-chr9:136649238..136649738,2	Hela-S3	cervix:

Variant related genes	Relation type
ACYP2	TF binding region
ACYP2	CpG island
ENSG00000162994	Chromatin interaction
ENSG00000241114	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000170634	Chromatin interaction
ENSG00000068878	Chromatin interaction
ENSG00000115310	Chromatin interaction
ENSG00000125835	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000229809	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17045435	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2016490	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2293359	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731972	0.80[AMR][1000 genomes]
rs3850347	0.80[AMR][1000 genomes]
rs55940356	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56264825	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58879065	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58985250	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72799268	0.80[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	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54190400-54197000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:54190600-54197000	Weak transcription	Esophagus	oesophagus
3	chr2:54192600-54197000	Weak transcription	Spleen	Spleen
4	chr2:54194000-54197000	Weak transcription	Gastric	stomach
5	chr2:54194000-54198800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr2:54194400-54197000	Flanking Active TSS	Dnd41	blood
7	chr2:54194800-54198800	Active TSS	Osteobl	bone
8	chr2:54194800-54199400	Active TSS	HSMMtube	muscle
9	chr2:54195000-54196800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:54195000-54198800	Active TSS	HMEC	breast
11	chr2:54195000-54199200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr2:54195000-54199400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:54195200-54197000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:54195200-54197400	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr2:54195200-54199200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr2:54195200-54199400	Active TSS	HSMM	muscle
17	chr2:54195400-54197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:54195400-54197000	Weak transcription	Lung	lung
19	chr2:54195400-54197000	Weak transcription	Pancreas	Pancrea
20	chr2:54195400-54197200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr2:54195400-54197400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr2:54195400-54198000	Active TSS	Right Atrium	heart
23	chr2:54195400-54198600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr2:54195400-54199000	Active TSS	Left Ventricle	heart
25	chr2:54195400-54199000	Active TSS	Right Ventricle	heart
26	chr2:54195400-54199200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:54195400-54199200	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr2:54195400-54199200	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr2:54195400-54199200	Active TSS	Psoas Muscle	Psoas
30	chr2:54195400-54199400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:54195600-54196800	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr2:54195600-54197200	Flanking Active TSS	Fetal Brain Male	brain
33	chr2:54195600-54197200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr2:54195600-54198800	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr2:54195600-54198800	Active TSS	Stomach Smooth Muscle	stomach
36	chr2:54195600-54199000	Active TSS	Aorta	Aorta
37	chr2:54195600-54199000	Active TSS	Fetal Muscle Leg	muscle
38	chr2:54195600-54199200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr2:54195600-54199200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:54195800-54196800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr2:54195800-54196800	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr2:54195800-54197000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr2:54195800-54197000	Weak transcription	Small Intestine	intestine
44	chr2:54195800-54197200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:54195800-54197400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr2:54195800-54198800	Active TSS	K562	blood
47	chr2:54195800-54198800	Active TSS	NHEK	skin
48	chr2:54195800-54199000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:54195800-54199000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:54195800-54199200	Active TSS	H1 Cell Line	embryonic stem cell

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