Variant report

Variant	rs58639682
Chromosome Location	chr12:118490421-118490422
allele	G/T
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	ZBTB33	chr12:118490304-118490594	HCT-116	colon:	n/a	n/a
2	REST	chr12:118490146-118490648	HepG2	liver:	n/a	n/a
3	SP1	chr12:118489740-118491146	HCT-116	colon:	n/a	chr12:118491042-118491056 chr12:118490767-118490781
4	TEAD4	chr12:118490056-118490839	HCT-116	colon:	n/a	chr12:118490443-118490452
5	MYC	chr12:118490258-118490539	HUVEC	blood vessel:	n/a	n/a
6	TEAD4	chr12:118490108-118490867	A549	lung:	n/a	chr12:118490443-118490452
7	SIN3AK20	chr12:118490063-118490712	A549	lung:	n/a	n/a
8	CEBPB	chr12:118490108-118490765	IMR90	lung:	n/a	n/a
9	HEY1	chr12:118490141-118490782	HepG2	liver:	n/a	n/a
10	MYC	chr12:118490376-118490555	HepG2	liver:	n/a	n/a
11	FOS	chr12:118489864-118490746	MCF10A-Er-Src	breast:	n/a	chr12:118490494-118490503 chr12:118490492-118490503 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
12	TEAD4	chr12:118490115-118490796	ECC-1	luminal epithelium:	n/a	chr12:118490443-118490452
13	POLR2A	chr12:118490014-118490863	U87	brain:	n/a	n/a
14	MAX	chr12:118490110-118490665	MCF-7	breast:	n/a	n/a
15	TEAD4	chr12:118490222-118490714	MCF-7	breast:	n/a	chr12:118490443-118490452
16	ATF3	chr12:118490144-118490714	A549	lung:	n/a	n/a
17	FOXA1	chr12:118489988-118490632	HepG2	liver:	n/a	n/a
18	SIN3AK20	chr12:118489932-118490957	MCF-7	breast:	n/a	n/a
19	POLR2A	chr12:118490210-118490676	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:118490317-118490579	SK-N-SH	brain:	n/a	n/a
21	STAT3	chr12:118490262-118490826	MCF10A-Er-Src	breast:	n/a	n/a
22	TBP	chr12:118490298-118490672	Hela-S3	cervix:	n/a	n/a
23	RCOR1	chr12:118489660-118490908	IMR90	lung:	n/a	n/a
24	CHD2	chr12:118490267-118490687	Hela-S3	cervix:	n/a	n/a
25	MAX	chr12:118489778-118491349	A549	lung:	n/a	chr12:118491313-118491323
26	SMARCC2	chr12:118490066-118490947	Hela-S3	cervix:	n/a	n/a
27	TAF1	chr12:118490209-118490658	SK-N-SH	brain:	n/a	n/a
28	FOS	chr12:118490126-118490711	MCF10A-Er-Src	breast:	n/a	chr12:118490494-118490503 chr12:118490492-118490503 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
29	POLR2A	chr12:118490109-118490812	U87	brain:	n/a	n/a
30	TEAD4	chr12:118490182-118490739	MCF-7	breast:	n/a	chr12:118490443-118490452
31	JUND	chr12:118489917-118491274	HCT-116	colon:	n/a	chr12:118490494-118490503 chr12:118490492-118490503 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
32	MAFK	chr12:118490238-118490802	HepG2	liver:	n/a	n/a
33	CEBPB	chr12:118490176-118490709	ECC-1	luminal epithelium:	n/a	n/a
34	TCF7L2	chr12:118490078-118490725	PANC-1	pancreas:	n/a	n/a
35	RUNX3	chr12:118490319-118490577	GM12878	blood:	n/a	n/a
36	RFX5	chr12:118490265-118490657	Hela-S3	cervix:	n/a	n/a
37	USF2	chr12:118490322-118490782	Hela-S3	cervix:	n/a	n/a
38	JUND	chr12:118490159-118490813	A549	lung:	n/a	chr12:118490494-118490503 chr12:118490492-118490503 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
39	POLR2A	chr12:118490250-118490679	HepG2	liver:	n/a	n/a
40	TCF7L2	chr12:118490249-118490622	Hela-S3	cervix:	n/a	n/a
41	SIN3AK20	chr12:118490187-118490652	SK-N-SH	brain:	n/a	n/a
42	STAT3	chr12:118490287-118490659	MCF10A-Er-Src	breast:	n/a	n/a
43	REST	chr12:118490129-118490654	PANC-1	pancreas:	n/a	n/a
44	SP1	chr12:118490114-118490780	HepG2	liver:	n/a	n/a
45	NR2F2	chr12:118490084-118490853	MCF-7	breast:	n/a	n/a
46	FOS	chr12:118490295-118490694	MCF10A-Er-Src	breast:	n/a	chr12:118490494-118490503 chr12:118490492-118490503 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
47	STAT3	chr12:118490279-118490769	Hela-S3	cervix:	n/a	n/a
48	SP1	chr12:118489882-118490899	A549	lung:	n/a	chr12:118490767-118490781
49	CEBPB	chr12:118490249-118490758	A549	lung:	n/a	n/a
50	RCOR1	chr12:118489919-118491015	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:118490377..118492216-chr12:118538475..118541095,2	MCF-7	breast:
2	chr12:118405716..118409105-chr12:118489157..118492188,4	MCF-7	breast:
3	chr12:118480642..118483852-chr12:118489666..118492317,3	K562	blood:

Variant related genes	Relation type
WSB2	TF binding region
ENSG00000176871	Chromatin interaction
ENSG00000171435	Chromatin interaction
ENSG00000176834	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11068779	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068780	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068788	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313999	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578639	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579444	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12582265	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55973710	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745792	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs5745807	0.86[AMR][1000 genomes]
rs5745808	0.83[AMR][1000 genomes]
rs5745820	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs5745876	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57493385	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58116528	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58436126	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60777883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61094951	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485548	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488835	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	esv1795965	chr12:118463329-118504859	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118455200-118497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:118456400-118491000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:118457200-118491400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:118459800-118491000	Strong transcription	Fetal Brain Female	brain
5	chr12:118476400-118490600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:118476400-118497600	Weak transcription	Fetal Brain Male	brain
7	chr12:118477000-118497600	Weak transcription	Primary B cells from cord blood	blood
8	chr12:118477200-118491800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:118479400-118490600	Weak transcription	Fetal Heart	heart
10	chr12:118480800-118497200	Weak transcription	Fetal Kidney	kidney
11	chr12:118481000-118493000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:118481000-118498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:118481200-118497600	Weak transcription	Fetal Thymus	thymus
14	chr12:118481400-118497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:118482600-118497600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:118482600-118497600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:118482800-118497200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:118484800-118490600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr12:118485200-118490600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:118485400-118490800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:118485400-118490800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:118485600-118490600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:118485800-118490600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr12:118486000-118490600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:118486200-118490800	Strong transcription	Thymus	Thymus
26	chr12:118486800-118491000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:118487200-118490800	Strong transcription	Primary T cells from cord blood	blood
28	chr12:118487200-118493000	Weak transcription	K562	blood
29	chr12:118487400-118491000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:118487800-118490600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:118488200-118490600	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr12:118489200-118490800	Enhancers	Stomach Mucosa	stomach
33	chr12:118489400-118490600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:118489400-118493000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:118489400-118497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:118489600-118491200	Enhancers	Fetal Lung	lung
37	chr12:118489600-118491400	Enhancers	Pancreas	Pancrea
38	chr12:118489600-118491800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:118489600-118493000	Weak transcription	Dnd41	blood
40	chr12:118489600-118494200	Enhancers	Left Ventricle	heart
41	chr12:118489600-118494200	Enhancers	HUVEC	blood vessel
42	chr12:118489600-118496800	Weak transcription	GM12878-XiMat	blood
43	chr12:118489600-118497200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:118489800-118490800	Enhancers	Duodenum Mucosa	Duodenum
45	chr12:118489800-118491200	Enhancers	Brain Angular Gyrus	brain
46	chr12:118489800-118491600	Flanking Active TSS	A549	lung
47	chr12:118489800-118491800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr12:118489800-118491800	Enhancers	HSMMtube	muscle
49	chr12:118489800-118491800	Enhancers	NHLF	lung
50	chr12:118490000-118490600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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