Variant report

Variant	rs12473069
Chromosome Location	chr2:114735245-114735246
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	MAFK	chr2:114735172-114736138	HepG2	liver:	n/a	chr2:114735694-114735704
2	USF2	chr2:114735230-114735360	GM12878	blood:	n/a	n/a
3	CEBPZ	chr2:114735098-114736250	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:114734609-114736884	HepG2	liver:	n/a	n/a
5	MYBL2	chr2:114734478-114738477	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:114734525-114735486	GM12891	blood:	n/a	n/a
7	POLR2A	chr2:114734945-114735653	U87	brain:	n/a	n/a
8	CEBPB	chr2:114735042-114736758	HepG2	liver:	n/a	chr2:114735799-114735810
9	TEAD4	chr2:114734792-114736870	HepG2	liver:	n/a	n/a
10	SP1	chr2:114734856-114736305	HepG2	liver:	n/a	n/a
11	FOXA2	chr2:114734545-114736465	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:114734568-114736048	PANC-1	pancreas:	n/a	n/a
13	JUND	chr2:114735094-114735492	HepG2	liver:	n/a	n/a
14	CHD2	chr2:114734698-114736606	HepG2	liver:	n/a	n/a
15	RAD21	chr2:114735175-114735828	MCF-7	breast:	n/a	chr2:114735462-114735481 chr2:114735679-114735692
16	HNF4A	chr2:114735100-114736122	HepG2	liver:	n/a	chr2:114735661-114735669 chr2:114735435-114735443
17	FOSL2	chr2:114734637-114736836	HepG2	liver:	n/a	chr2:114735695-114735704 chr2:114735694-114735706 chr2:114735697-114735704 chr2:114735971-114735982 chr2:114735696-114735704
18	POLR2A	chr2:114734270-114737182	HepG2	liver:	n/a	n/a
19	POLR2A	chr2:114734593-114736611	HepG2	liver:	n/a	n/a
20	CREB1	chr2:114734601-114737261	HepG2	liver:	n/a	n/a
21	HEY1	chr2:114734625-114737653	HepG2	liver:	n/a	n/a
22	FOSL2	chr2:114734993-114736280	HepG2	liver:	n/a	chr2:114735695-114735704 chr2:114735694-114735706 chr2:114735697-114735704 chr2:114735971-114735982 chr2:114735696-114735704
23	MYBL2	chr2:114734556-114736571	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:114734646-114736832	HepG2	liver:	n/a	n/a
25	FOXA1	chr2:114734947-114736371	HepG2	liver:	n/a	n/a
26	CTCF	chr2:114735232-114735777	HepG2	liver:	n/a	chr2:114735461-114735479 chr2:114735463-114735484
27	CTCF	chr2:114735240-114735390	A549	lung:	n/a	n/a
28	POLR2A	chr2:114734601-114735498	HepG2	liver:	n/a	n/a
29	POLR2A	chr2:114734635-114736299	A549	lung:	n/a	n/a
30	POLR2A	chr2:114734584-114735590	GM12892	blood:	n/a	n/a
31	JUN	chr2:114735119-114736282	HepG2	liver:	n/a	chr2:114735695-114735704 chr2:114735694-114735706 chr2:114735697-114735704 chr2:114735971-114735982 chr2:114735696-114735704
32	JUND	chr2:114735036-114736207	HepG2	liver:	n/a	chr2:114735695-114735704 chr2:114735694-114735705 chr2:114735694-114735706 chr2:114735697-114735704 chr2:114735971-114735982 chr2:114735696-114735704
33	FOXA2	chr2:114735076-114736255	HepG2	liver:	n/a	n/a
34	CEBPB	chr2:114735023-114736749	HepG2	liver:	n/a	chr2:114735799-114735810
35	POLR2A	chr2:114733773-114735381	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:114734623-114735633	HepG2	liver:	n/a	n/a
37	SMC3	chr2:114735005-114736296	HepG2	liver:	n/a	chr2:114735463-114735477
38	USF2	chr2:114734945-114736238	HepG2	liver:	n/a	chr2:114735676-114735692
39	FOXA1	chr2:114734947-114736355	HepG2	liver:	n/a	n/a
40	TCF12	chr2:114735162-114736221	HepG2	liver:	n/a	chr2:114735602-114735610
41	HNF4A	chr2:114735182-114736142	HepG2	liver:	n/a	chr2:114735661-114735669 chr2:114735435-114735443
42	POLR2A	chr2:114734918-114735599	GM12878	blood:	n/a	n/a
43	HDAC2	chr2:114735038-114736260	HepG2	liver:	n/a	chr2:114736071-114736090
44	RAD21	chr2:114735034-114736262	HepG2	liver:	n/a	chr2:114735462-114735481 chr2:114735679-114735692
45	POLR2A	chr2:114735223-114735376	GM12878	blood:	n/a	n/a
46	RAD21	chr2:114735049-114736272	HepG2	liver:	n/a	chr2:114735462-114735481 chr2:114735679-114735692
47	NFIC	chr2:114734581-114736537	HepG2	liver:	n/a	chr2:114735586-114735614 chr2:114736185-114736201
48	MAX	chr2:114734733-114736645	HepG2	liver:	n/a	chr2:114735696-114735705 chr2:114735695-114735704
49	POLR2A	chr2:114735006-114735609	U87	brain:	n/a	n/a
50	MBD4	chr2:114734503-114736773	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114735221-114735271	HRE	kidney:	n/a
2	chr2:114735221-114735271	K562	blood:	n/a
3	chr2:114735221-114735271	PFSK-1	brain:	n/a
4	chr2:114735221-114735271	HCT-116	colon:	n/a
5	chr2:114735221-114735271	IMR90	lung:	fetal
6	chr2:114735221-114735271	U87	brain:	n/a
7	chr2:114735221-114735271	GM12878	blood:	n/a
8	chr2:114735221-114735271	HCPEpiC	choroid plexus:	n/a
9	chr2:114735221-114735271	HRCEpiC	kidney:	n/a
10	chr2:114735221-114735271	PANC-1	pancreas:	n/a
11	chr2:114735221-114735271	HCM	heart:	n/a
12	chr2:114735221-114735271	HPAEpiC	pulmonary alveolar:	n/a
13	chr2:114735221-114735271	SAEC	small airway:	n/a
14	chr2:114735221-114735271	AG10803	skin:	n/a
15	chr2:114735221-114735271	T-47D	breast:	n/a
16	chr2:114735221-114735271	HepG2	liver:	n/a
17	chr2:114735221-114735271	SK-N-SH_RA	brain:	n/a
18	chr2:114735221-114735271	LNCaP	prostate:	n/a
19	chr2:114735221-114735271	AoSMC	blood vessel:	n/a
20	chr2:114735221-114735271	AG09319	gingival:	n/a
21	chr2:114735221-114735271	GM12891	blood:	n/a
22	chr2:114735221-114735271	HL-60	blood:	n/a
23	chr2:114735221-114735271	SK-N-MC	brain:	n/a
24	chr2:114735221-114735271	AG04450	lung:	fetal
25	chr2:114735221-114735271	NB4	blood:	n/a
26	chr2:114735221-114735271	Hepatocyte	liver:	n/a
27	chr2:114735221-114735271	H1-hESC	embryonic stem cell:	embryo
28	chr2:114735221-114735271	SKMC	muscle:	n/a
29	chr2:114735221-114735271	ProgFib	skin:	n/a
30	chr2:114735221-114735271	BE2_C	brain:	n/a
31	chr2:114735221-114735271	BJ	skin:	n/a
32	chr2:114735221-114735271	HCF	heart:	n/a
33	chr2:114735221-114735271	HEK293	kidney:	embryo
34	chr2:114735221-114735271	GM19239	blood:	n/a
35	chr2:114735221-114735271	HUVEC	blood vessel:	n/a
36	chr2:114735221-114735271	HMEC	breast:	n/a
37	chr2:114735221-114735271	Caco-2	colon:	n/a
38	chr2:114735221-114735271	Hela-S3	cervix:	n/a
39	chr2:114735221-114735271	NHBE	bronchial:	n/a
40	chr2:114735221-114735271	RPTEC	kidney:	n/a
41	chr2:114735221-114735271	SK-N-SH	brain:	n/a
42	chr2:114735221-114735271	HRPEpiC	eye:	n/a
43	chr2:114735221-114735271	AG04449	skin:	fetal
44	chr2:114735221-114735271	HEEpiC	esophagus:	n/a
45	chr2:114735221-114735271	GM12892	blood:	n/a
46	chr2:114735221-114735271	Jurkat	blood:	n/a
47	chr2:114735221-114735271	NH-A	brain:	n/a
48	chr2:114735221-114735271	NHDF-neo	bronchial:	n/a
49	chr2:114735221-114735271	MCF-7	breast:	n/a
50	chr2:114735221-114735271	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:114727885..114731158-chr2:114732543..114736928,5	K562	blood:
2	chr2:114735108..114735885-chr2:115840904..115841609,2	MCF-7	breast:
3	chr2:114735006..114735845-chr2:115308620..115309837,4	MCF-7	breast:
4	chr2:114735044..114736090-chr2:115308641..115309989,10	MCF-7	breast:
5	chr2:114734985..114735963-chr2:115300641..115301514,3	MCF-7	breast:
6	chr2:114735196..114736318-chr2:114959110..114959760,3	MCF-7	breast:
7	chr2:114735119..114736107-chr2:115301018..115301565,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR3-1	chr2:114735195-114737211	NONHSAT073855

Variant related genes	Relation type
ENSG00000243179	TF binding region
ENSG00000234199	TF binding region
ENSG00000234199	CpG island
ENSG00000243179	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10182551	1.00[ASN][1000 genomes]
rs10182655	1.00[ASN][1000 genomes]
rs10195346	0.95[ASN][1000 genomes]
rs10202743	1.00[ASN][1000 genomes]
rs11123219	0.84[EUR][1000 genomes]
rs11890157	1.00[CEU][hapmap];0.92[MEX][hapmap];0.84[EUR][1000 genomes]
rs11901777	1.00[ASN][1000 genomes]
rs11901908	1.00[ASN][1000 genomes]
rs12463475	0.95[ASN][1000 genomes]
rs12469450	0.84[EUR][1000 genomes]
rs12472051	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12478153	0.81[EUR][1000 genomes]
rs12618683	0.85[MEX][hapmap]
rs13396863	1.00[ASN][1000 genomes]
rs13398262	1.00[ASN][1000 genomes]
rs13409114	0.95[ASN][1000 genomes]
rs13409146	1.00[ASN][1000 genomes]
rs13421586	1.00[ASN][1000 genomes]
rs17046604	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3866272	1.00[ASN][1000 genomes]
rs3916120	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56114409	0.84[EUR][1000 genomes]
rs56351059	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62617784	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6735675	1.00[CEU][hapmap];0.92[MEX][hapmap];0.84[EUR][1000 genomes]
rs6749304	1.00[ASN][1000 genomes]
rs71416578	1.00[ASN][1000 genomes]

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114705200-114736000	Weak transcription	Gastric	stomach
2	chr2:114705200-114737600	Weak transcription	Esophagus	oesophagus
3	chr2:114710400-114735800	Weak transcription	Colonic Mucosa	Colon
4	chr2:114711200-114735400	Weak transcription	Fetal Lung	lung
5	chr2:114711800-114735400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:114713800-114736200	Weak transcription	Fetal Stomach	stomach
7	chr2:114715000-114744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:114715200-114735600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:114715600-114735400	Weak transcription	K562	blood
10	chr2:114715600-114737000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:114718600-114735400	Weak transcription	Adipose Nuclei	Adipose
12	chr2:114718800-114743200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:114721200-114735800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:114727400-114735400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:114727600-114735600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:114727600-114736400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:114727600-114736800	Weak transcription	A549	lung
18	chr2:114729000-114735600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:114729600-114737000	Weak transcription	Placenta	Placenta
20	chr2:114732400-114737400	Weak transcription	Lung	lung
21	chr2:114732600-114735600	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:114733000-114735400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:114733200-114736000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:114733400-114735600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:114733400-114737400	Weak transcription	GM12878-XiMat	blood
26	chr2:114733400-114741200	Weak transcription	Liver	Liver
27	chr2:114733400-114743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:114733600-114735400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:114733800-114735800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:114733800-114736600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:114733800-114736800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:114733800-114741600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:114734000-114736200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:114734000-114736800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:114734000-114737200	Enhancers	HMEC	breast
36	chr2:114734000-114737800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:114734000-114738000	Enhancers	Pancreas	Pancrea
38	chr2:114734000-114746000	Weak transcription	Aorta	Aorta
39	chr2:114734000-114751800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:114734200-114736200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:114734200-114736800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:114734200-114737000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr2:114734200-114737800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:114734400-114735600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:114734400-114735600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:114734400-114736600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:114734400-114749800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr2:114734600-114735800	Flanking Active TSS	HepG2	liver
49	chr2:114734600-114736200	Enhancers	HSMM	muscle
50	chr2:114734600-114736200	Enhancers	HSMMtube	muscle

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