Variant report

Variant	rs72917494
Chromosome Location	chr2:54557867-54557868
allele	C/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	ELF1	chr2:54557565-54558255	MCF-7	breast:	n/a	n/a
2	POLR2A	chr2:54557372-54558079	H1-hESC	embryonic stem cell:	n/a	n/a
3	HDAC2	chr2:54557569-54558202	HepG2	liver:	n/a	n/a
4	HA-E2F1	chr2:54557360-54558286	MCF-7	breast:	n/a	chr2:54557944-54557953 chr2:54557625-54557637 chr2:54557572-54557581
5	UBTF	chr2:54557598-54558133	K562	blood:	n/a	n/a
6	MAX	chr2:54557355-54558165	H1-hESC	embryonic stem cell:	n/a	chr2:54557878-54557888 chr2:54557968-54557977
7	YY1	chr2:54557720-54558180	A549	lung:	n/a	chr2:54557729-54557740
8	POLR2A	chr2:54557701-54558144	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:54557562-54558147	HUVEC	blood vessel:	n/a	n/a
10	MXI1	chr2:54557646-54558173	H1-hESC	embryonic stem cell:	n/a	n/a
11	TBL1XR1	chr2:54557643-54558007	K562	blood:	n/a	n/a
12	SMC3	chr2:54557859-54558162	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr2:54557703-54558020	GM12878	blood:	n/a	n/a
14	ZNF263	chr2:54557381-54558308	HEK293-T-REx	kidney:	n/a	chr2:54558114-54558135
15	TCF12	chr2:54557319-54558450	A549	lung:	n/a	n/a
16	GATA3	chr2:54557694-54558409	MCF-7	breast:	n/a	n/a
17	MAX	chr2:54557354-54558305	SK-N-SH	brain:	n/a	chr2:54557878-54557888 chr2:54557968-54557977
18	NRF1	chr2:54557015-54558431	SK-N-SH	brain:	n/a	chr2:54557945-54557954 chr2:54557943-54557957 chr2:54557940-54557954 chr2:54557943-54557954 chr2:54557943-54557954
19	MXI1	chr2:54557812-54558137	Hela-S3	cervix:	n/a	n/a
20	RFX5	chr2:54556901-54558196	HepG2	liver:	n/a	chr2:54558000-54558014 chr2:54557573-54557582 chr2:54557997-54558013 chr2:54557998-54558012
21	ZNF143	chr2:54557478-54558244	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAZ	chr2:54557714-54558107	HepG2	liver:	n/a	chr2:54557878-54557888 chr2:54557968-54557977
23	CTCF	chr2:54557860-54558010	HCPEpiC	choroid plexus:	n/a	n/a
24	MAX	chr2:54557379-54558131	H1-hESC	embryonic stem cell:	n/a	chr2:54557878-54557888 chr2:54557968-54557977
25	GATA2	chr2:54557592-54558511	HUVEC	blood vessel:	n/a	chr2:54558124-54558138
26	EGR1	chr2:54557747-54558058	K562	blood:	n/a	chr2:54557961-54557983 chr2:54557879-54557889 chr2:54557944-54557953
27	REST	chr2:54557381-54558386	A549	lung:	n/a	n/a
28	JUND	chr2:54557352-54558001	H1-hESC	embryonic stem cell:	n/a	n/a
29	MYC	chr2:54557865-54558071	MCF-7	breast:	n/a	chr2:54557878-54557888 chr2:54557968-54557977
30	EP300	chr2:54557821-54558103	HepG2	liver:	n/a	n/a
31	E2F6	chr2:54557171-54558231	H1-hESC	embryonic stem cell:	n/a	chr2:54557944-54557953 chr2:54557625-54557637 chr2:54557572-54557581
32	POLR2A	chr2:54557580-54558043	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZNF143	chr2:54557740-54558259	K562	blood:	n/a	n/a
34	GATA2	chr2:54557418-54558418	SH-SY5Y	brain:	n/a	chr2:54558124-54558138
35	FOXA1	chr2:54557553-54558169	HepG2	liver:	n/a	n/a
36	MAX	chr2:54557515-54558194	HepG2	liver:	n/a	chr2:54557878-54557888 chr2:54557968-54557977
37	RCOR1	chr2:54557310-54558194	K562	blood:	n/a	n/a
38	NRF1	chr2:54557768-54558112	K562	blood:	n/a	chr2:54557945-54557954 chr2:54557943-54557957 chr2:54557940-54557954 chr2:54557943-54557954 chr2:54557943-54557954
39	ZMIZ1	chr2:54557694-54558147	K562	blood:	n/a	n/a
40	MAX	chr2:54557216-54558378	A549	lung:	n/a	chr2:54557878-54557888 chr2:54557968-54557977
41	MXI1	chr2:54556371-54559071	SK-N-SH	brain:	n/a	n/a
42	MAZ	chr2:54556493-54559239	IMR90	lung:	n/a	chr2:54557878-54557888 chr2:54557968-54557977
43	SRF	chr2:54557848-54558078	K562	blood:	n/a	chr2:54557878-54557888
44	MAFK	chr2:54557657-54558096	K562	blood:	n/a	n/a
45	ELF1	chr2:54557538-54558253	GM12878	blood:	n/a	n/a
46	STAT3	chr2:54557753-54558256	MCF10A-Er-Src	breast:	n/a	chr2:54557799-54557811 chr2:54558045-54558056 chr2:54558071-54558082
47	POLR2A	chr2:54557649-54558215	HCT-116	colon:	n/a	n/a
48	JUND	chr2:54557490-54558201	K562	blood:	n/a	n/a
49	NRF1	chr2:54557726-54558187	GM12878	blood:	n/a	chr2:54557945-54557954 chr2:54557943-54557957 chr2:54557940-54557954 chr2:54557943-54557954 chr2:54557943-54557954
50	YY1	chr2:54557660-54558200	SK-N-SH_RA	brain:	n/a	chr2:54557729-54557740

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54557836-54557886	HIPEpiC	eye:	n/a
2	chr2:54557836-54557886	HRPEpiC	eye:	n/a
3	chr2:54557836-54557886	U87	brain:	n/a
4	chr2:54557836-54557886	AG04450	lung:	fetal
5	chr2:54557836-54557886	SK-N-SH_RA	brain:	n/a
6	chr2:54557836-54557886	SKMC	muscle:	n/a
7	chr2:54557836-54557886	HUVEC	blood vessel:	n/a
8	chr2:54557836-54557886	HCM	heart:	n/a
9	chr2:54557836-54557886	NH-A	brain:	n/a
10	chr2:54557836-54557886	LNCaP	prostate:	n/a
11	chr2:54557836-54557886	HPAEpiC	pulmonary alveolar:	n/a
12	chr2:54557836-54557886	HNPCEpiC	eye:	n/a
13	chr2:54557836-54557886	AG10803	skin:	n/a
14	chr2:54557836-54557886	PANC-1	pancreas:	n/a
15	chr2:54557836-54557886	IMR90	lung:	fetal
16	chr2:54557836-54557886	HRE	kidney:	n/a
17	chr2:54557836-54557886	K562	blood:	n/a
18	chr2:54557836-54557886	Hepatocyte	liver:	n/a
19	chr2:54557836-54557886	ECC-1	luminal epithelium:	n/a
20	chr2:54557836-54557886	HEK293	kidney:	embryo
21	chr2:54557836-54557886	AG09309	skin:	n/a
22	chr2:54557836-54557886	SAEC	small airway:	n/a
23	chr2:54557836-54557886	HRCEpiC	kidney:	n/a
24	chr2:54557836-54557886	HepG2	liver:	n/a
25	chr2:54557836-54557886	Hela-S3	cervix:	n/a
26	chr2:54557836-54557886	NT2-D1	testis:	n/a
27	chr2:54557836-54557886	NHBE	bronchial:	n/a
28	chr2:54557836-54557886	AG09319	gingival:	n/a
29	chr2:54557836-54557886	SK-N-MC	brain:	n/a
30	chr2:54557836-54557886	GM12891	blood:	n/a
31	chr2:54557836-54557886	HCF	heart:	n/a
32	chr2:54557836-54557886	GM19239	blood:	n/a
33	chr2:54557836-54557886	T-47D	breast:	n/a
34	chr2:54557836-54557886	AoSMC	blood vessel:	n/a
35	chr2:54557836-54557886	ovcar-3	ovarian:	n/a
36	chr2:54557836-54557886	Caco-2	colon:	n/a
37	chr2:54557836-54557886	PrEC	prostate:	n/a
38	chr2:54557836-54557886	H1-hESC	embryonic stem cell:	embryo
39	chr2:54557836-54557886	ProgFib	skin:	n/a
40	chr2:54557836-54557886	NB4	blood:	n/a
41	chr2:54557836-54557886	CMK	blood:	n/a
42	chr2:54557836-54557886	GM12878	blood:	n/a
43	chr2:54557836-54557886	HL-60	blood:	n/a
44	chr2:54557836-54557886	SK-N-SH	brain:	n/a
45	chr2:54557836-54557886	GM12892	blood:	n/a
46	chr2:54557836-54557886	HCPEpiC	choroid plexus:	n/a
47	chr2:54557836-54557886	HMEC	breast:	n/a
48	chr2:54557836-54557886	NHDF-neo	bronchial:	n/a
49	chr2:54557836-54557886	A549	lung:	n/a
50	chr2:54557836-54557886	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54341443..54343043-chr2:54557751..54559883,2	MCF-7	breast:
2	chr2:54341307..54344135-chr2:54557168..54559182,2	K562	blood:

Variant related genes	Relation type
C2orf73	TF binding region
C2orf73	CpG island
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10198072	1.00[EUR][1000 genomes]
rs17045642	1.00[EUR][1000 genomes]
rs60599526	1.00[EUR][1000 genomes]
rs6720696	1.00[EUR][1000 genomes]
rs6732202	1.00[EUR][1000 genomes]
rs6735998	1.00[EUR][1000 genomes]
rs73935091	1.00[EUR][1000 genomes]
rs73935095	1.00[EUR][1000 genomes]
rs73935096	1.00[EUR][1000 genomes]
rs73938020	1.00[EUR][1000 genomes]
rs7558041	1.00[EUR][1000 genomes]
rs7593099	1.00[EUR][1000 genomes]
rs7593450	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv532512	chr2:54453210-54630755	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1004632	chr2:54469283-54590480	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:54556800-54558400	Active TSS	Brain Substantia Nigra	brain
2	chr2:54556800-54558600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr2:54557000-54558200	Active TSS	Esophagus	oesophagus
4	chr2:54557000-54558200	Active TSS	HSMMtube	muscle
5	chr2:54557000-54558400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr2:54557000-54558400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr2:54557000-54558400	Active TSS	Aorta	Aorta
8	chr2:54557000-54558400	Active TSS	Right Ventricle	heart
9	chr2:54557000-54558600	Flanking Active TSS	Liver	Liver
10	chr2:54557000-54558800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:54557000-54558800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:54557000-54558800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr2:54557000-54558800	Flanking Active TSS	Dnd41	blood
14	chr2:54557200-54558000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:54557200-54558200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:54557200-54558200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:54557200-54558200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:54557200-54558200	Active TSS	Placenta Amnion	Placenta Amnion
19	chr2:54557200-54558200	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr2:54557200-54558400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:54557200-54558400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:54557200-54558400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr2:54557200-54558400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:54557200-54558400	Active TSS	Left Ventricle	heart
25	chr2:54557200-54558400	Active TSS	Lung	lung
26	chr2:54557200-54558400	Active TSS	Ovary	ovary
27	chr2:54557200-54558400	Active TSS	Pancreas	Pancrea
28	chr2:54557200-54558400	Active TSS	Psoas Muscle	Psoas
29	chr2:54557200-54558400	Active TSS	NHDF-Ad	bronchial
30	chr2:54557200-54558600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr2:54557200-54558600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:54557200-54558600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:54557200-54558600	Active TSS	Brain Anterior Caudate	brain
34	chr2:54557200-54558600	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr2:54557200-54558600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr2:54557200-54558600	Flanking Active TSS	HMEC	breast
37	chr2:54557200-54558600	Flanking Active TSS	HUVEC	blood vessel
38	chr2:54557200-54558800	Active TSS	Fetal Kidney	kidney
39	chr2:54557200-54558800	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr2:54557400-54558000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr2:54557400-54558000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:54557400-54558000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:54557400-54558000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:54557400-54558000	Active TSS	Thymus	Thymus
45	chr2:54557400-54558200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:54557400-54558200	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr2:54557400-54558200	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr2:54557400-54558200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr2:54557400-54558200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:54557400-54558200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood

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