Variant report

Variant	rs73300051
Chromosome Location	chr12:51420057-51420058
allele	A/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	POLR2A	chr12:51419845-51420479	U87	brain:	n/a	n/a
2	RAD21	chr12:51420040-51420514	H1-hESC	embryonic stem cell:	n/a	chr12:51420236-51420250
3	IRF3	chr12:51420056-51420335	Hela-S3	cervix:	n/a	chr12:51420277-51420291 chr12:51420222-51420231
4	TCF3	chr12:51419858-51420491	GM12878	blood:	n/a	n/a
5	MYC	chr12:51419418-51420624	K562	blood:	n/a	chr12:51420284-51420293
6	STAT3	chr12:51420021-51420301	MCF10A-Er-Src	breast:	n/a	chr12:51420176-51420188
7	MYC	chr12:51419575-51420564	MCF10A-Er-Src	breast:	n/a	chr12:51420284-51420293
8	EGR1	chr12:51419767-51420616	ECC-1	luminal epithelium:	n/a	chr12:51420283-51420294 chr12:51420120-51420133 chr12:51420121-51420130 chr12:51420120-51420133 chr12:51420282-51420295 chr12:51420277-51420299 chr12:51420119-51420133 chr12:51420282-51420295 chr12:51420121-51420131 chr12:51420120-51420133 chr12:51420283-51420292 chr12:51420282-51420295 chr12:51420283-51420293 chr12:51420120-51420133 chr12:51420120-51420130 chr12:51420281-51420295 chr12:51420283-51420293 chr12:51420115-51420137
9	TBP	chr12:51418482-51420562	HepG2	liver:	n/a	n/a
10	USF1	chr12:51419934-51420288	A549	lung:	n/a	n/a
11	POLR2A	chr12:51419609-51420595	A549	lung:	n/a	n/a
12	HEY1	chr12:51419372-51420639	K562	blood:	n/a	chr12:51419671-51419686
13	ETS1	chr12:51419780-51420540	A549	lung:	n/a	chr12:51420119-51420130
14	YY1	chr12:51419463-51420432	H1-hESC	embryonic stem cell:	n/a	chr12:51419673-51419687 chr12:51420119-51420128 chr12:51419818-51419827
15	POLR2A	chr12:51419332-51420527	HepG2	liver:	n/a	n/a
16	BACH1	chr12:51419841-51420337	H1-hESC	embryonic stem cell:	n/a	n/a
17	EP300	chr12:51419935-51420449	K562	blood:	n/a	chr12:51420120-51420136 chr12:51420119-51420128
18	TAF1	chr12:51419832-51420469	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:51419459-51420690	HUVEC	blood vessel:	n/a	n/a
20	USF1	chr12:51420026-51420176	HepG2	liver:	n/a	n/a
21	YY1	chr12:51419687-51420477	H1-hESC	embryonic stem cell:	n/a	chr12:51420119-51420128 chr12:51419818-51419827
22	MAX	chr12:51419237-51420765	HepG2	liver:	n/a	chr12:51420284-51420293
23	MAX	chr12:51419220-51420761	HepG2	liver:	n/a	chr12:51420284-51420293
24	CREB1	chr12:51419702-51420488	A549	lung:	n/a	n/a
25	TAF1	chr12:51419351-51420512	H1-hESC	embryonic stem cell:	n/a	n/a
26	NR2F2	chr12:51419233-51420321	K562	blood:	n/a	chr12:51420065-51420080
27	REST	chr12:51419428-51420082	HepG2	liver:	n/a	chr12:51419656-51419669
28	MYBL2	chr12:51418563-51420609	HepG2	liver:	n/a	n/a
29	TBP	chr12:51419456-51420534	H1-hESC	embryonic stem cell:	n/a	n/a
30	SIN3AK20	chr12:51419802-51420401	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr12:51419292-51420561	K562	blood:	n/a	n/a
32	POLR2A	chr12:51419274-51420729	SK-N-MC	brain:	n/a	n/a
33	FOS	chr12:51420049-51420455	Hela-S3	cervix:	n/a	n/a
34	EP300	chr12:51419978-51420452	GM12878	blood:	n/a	chr12:51420120-51420136 chr12:51420119-51420128
35	POLR2A	chr12:51419519-51420602	GM18951	blood:	n/a	n/a
36	FOS	chr12:51419993-51420408	K562	blood:	n/a	chr12:51420027-51420036
37	POLR2A	chr12:51419756-51420621	MCF-7	breast:	n/a	n/a
38	SIN3A	chr12:51419252-51420492	H1-hESC	embryonic stem cell:	n/a	chr12:51419656-51419669
39	EBF1	chr12:51419983-51420523	GM12878	blood:	n/a	chr12:51420329-51420340 chr12:51420310-51420321
40	E2F6	chr12:51419529-51420569	K562	blood:	n/a	chr12:51420120-51420130 chr12:51420190-51420199
41	E2F6	chr12:51419458-51420751	A549	lung:	n/a	chr12:51420120-51420130 chr12:51420190-51420199
42	MAX	chr12:51419506-51420697	HCT-116	colon:	n/a	chr12:51420284-51420293
43	USF1	chr12:51419943-51420186	GM12878	blood:	n/a	n/a
44	NR2C2	chr12:51419691-51420416	HepG2	liver:	n/a	chr12:51420068-51420077 chr12:51420065-51420080 chr12:51420066-51420079
45	TAF7	chr12:51419428-51420544	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr12:51419968-51420186	GM12891	blood:	n/a	n/a
47	POLR2A	chr12:51419511-51420499	GM12878	blood:	n/a	n/a
48	USF1	chr12:51419933-51420358	A549	lung:	n/a	n/a
49	PAX5	chr12:51419925-51420328	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:51419886-51420518	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:51393339..51395355-chr12:51418733..51421410,2	MCF-7	breast:
2	chr12:51385408..51389476-chr12:51420028..51421870,3	MCF-7	breast:
3	chr12:51156345..51159697-chr12:51418125..51424480,11	MCF-7	breast:
4	chr12:51417420..51423779-chr12:51473917..51478493,9	MCF-7	breast:
5	chr12:51419557..51420269-chr17:73150232..73151007,2	Hela-S3	cervix:
6	chr12:51414500..51424231-chr12:51435741..51444321,19	K562	blood:
7	chr12:51157405..51159033-chr12:51418554..51420263,2	MCF-7	breast:
8	chr12:51397137..51401396-chr12:51418750..51422923,7	MCF-7	breast:
9	chr12:51418513..51423622-chr12:51474378..51479071,10	MCF-7	breast:
10	chr12:51419815..51423306-chr17:56706440..56710556,3	MCF-7	breast:
11	chr12:51419545..51420090-chr12:51477089..51478060,2	Hela-S3	cervix:
12	chr12:51419463..51422870-chr12:51476162..51478400,3	K562	blood:
13	chr12:51404460..51409575-chr12:51416331..51420356,8	MCF-7	breast:
14	chr12:51419291..51420223-chr12:51441428..51442247,3	MCF-7	breast:
15	chr12:51419574..51420267-chr12:51441420..51442175,2	Hela-S3	cervix:
16	chr12:51418602..51423346-chr12:51439309..51444851,15	MCF-7	breast:
17	chr12:50897880..50899909-chr12:51417990..51420226,2	MCF-7	breast:
18	chr12:51417478..51420284-chr12:51632474..51634014,2	MCF-7	breast:
19	chr12:51418648..51420255-chr12:51610985..51612931,2	K562	blood:
20	chr12:51418785..51420716-chr12:51421022..51423680,2	K562	blood:
21	chr12:51419621..51420148-chr19:13056676..13057213,2	Hela-S3	cervix:
22	chr12:51388022..51389545-chr12:51419948..51422038,2	MCF-7	breast:
23	chr12:51155914..51160622-chr12:51417270..51421869,9	K562	blood:
24	chr12:51419952..51421943-chr12:51475612..51477490,4	K562	blood:
25	chr12:51416659..51422801-chr12:51440164..51444812,17	MCF-7	breast:
26	chr12:51156114..51160622-chr12:51418657..51421869,11	K562	blood:
27	chr12:51316948..51319607-chr12:51419309..51421732,3	K562	blood:
28	chr12:51316948..51319607-chr12:51419309..51421732,2	K562	blood:
29	chr12:51398011..51404686-chr12:51416862..51423754,14	MCF-7	breast:

Variant related genes	Relation type
SLC11A2	TF binding region
ENSG00000183283	Chromatin interaction
ENSG00000272028	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000066084	Chromatin interaction
ENSG00000189159	Chromatin interaction
ENSG00000185432	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000179262	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000123268	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11832162	1.00[AMR][1000 genomes]
rs11832863	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11834061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11834248	1.00[AMR][1000 genomes]
rs11834310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11837720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308376	1.00[AMR][1000 genomes]
rs13378041	1.00[AMR][1000 genomes]
rs57268497	1.00[AMR][1000 genomes]
rs59268299	1.00[AMR][1000 genomes]
rs59487164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60167482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60725885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300028	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308084	1.00[AMR][1000 genomes]
rs73310015	1.00[AMR][1000 genomes]
rs73310018	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 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	chr12:51417400-51420600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr12:51417400-51420800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:51417800-51420200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:51417800-51420600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:51417800-51420600	Active TSS	Aorta	Aorta
6	chr12:51417800-51420800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr12:51417800-51420800	Active TSS	Brain Angular Gyrus	brain
8	chr12:51418000-51420400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:51418000-51420400	Active TSS	NHLF	lung
10	chr12:51418000-51420600	Active TSS	Brain Anterior Caudate	brain
11	chr12:51418000-51420600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:51418000-51420600	Active TSS	Right Ventricle	heart
13	chr12:51418000-51420800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:51418200-51420200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:51418200-51420400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:51418200-51420400	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr12:51418200-51420400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:51418200-51420400	Active TSS	Brain Cingulate Gyrus	brain
19	chr12:51418200-51420400	Active TSS	Brain Substantia Nigra	brain
20	chr12:51418200-51420400	Active TSS	K562	blood
21	chr12:51418200-51420600	Active TSS	Esophagus	oesophagus
22	chr12:51418200-51420600	Active TSS	Ovary	ovary
23	chr12:51418200-51420600	Active TSS	Psoas Muscle	Psoas
24	chr12:51418200-51420600	Active TSS	Stomach Mucosa	stomach
25	chr12:51418200-51421200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr12:51418400-51420400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr12:51418400-51420400	Active TSS	Fetal Intestine Large	intestine
28	chr12:51418400-51420600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:51418400-51420600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:51418400-51420600	Active TSS	Brain Hippocampus Middle	brain
31	chr12:51418400-51420600	Active TSS	Left Ventricle	heart
32	chr12:51418600-51420400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:51418600-51420400	Active TSS	Fetal Muscle Trunk	muscle
34	chr12:51418600-51420600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:51418600-51420600	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr12:51418800-51420400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr12:51418800-51420400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr12:51418800-51420400	Active TSS	Fetal Brain Male	brain
39	chr12:51418800-51420400	Active TSS	Fetal Stomach	stomach
40	chr12:51418800-51420600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr12:51418800-51420600	Active TSS	Thymus	Thymus
42	chr12:51418800-51420600	Active TSS	GM12878-XiMat	blood
43	chr12:51419000-51420400	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr12:51419000-51420400	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr12:51419000-51420400	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr12:51419000-51420400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr12:51419000-51420600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:51419000-51420600	Flanking Active TSS	HMEC	breast
49	chr12:51419200-51420200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:51419200-51420200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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