Variant report

Variant	rs11065075
Chromosome Location	chr12:120740529-120740530
allele	C/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	POLR2A	chr12:120739810-120740535	SK-N-MC	brain:	n/a	n/a
2	FOXA1	chr12:120739897-120740646	HepG2	liver:	n/a	n/a
3	EP300	chr12:120739793-120740592	ECC-1	luminal epithelium:	n/a	n/a
4	TEAD4	chr12:120739801-120740552	K562	blood:	n/a	chr12:120740381-120740390
5	RUNX3	chr12:120739784-120740546	GM12878	blood:	n/a	chr12:120740064-120740081
6	SIN3AK20	chr12:120739842-120740566	A549	lung:	n/a	n/a
7	SIX5	chr12:120739475-120740743	A549	lung:	n/a	chr12:120740109-120740118 chr12:120740073-120740082 chr12:120740107-120740116
8	TCF12	chr12:120739633-120740681	A549	lung:	n/a	chr12:120740443-120740452
9	FOXA1	chr12:120739970-120740542	ECC-1	luminal epithelium:	n/a	n/a
10	CREB1	chr12:120739794-120740585	HepG2	liver:	n/a	n/a
11	FOSL2	chr12:120739824-120740658	A549	lung:	n/a	n/a
12	GATA3	chr12:120739814-120740544	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr12:120739914-120740665	HUVEC	blood vessel:	n/a	n/a
14	USF1	chr12:120739861-120740572	A549	lung:	n/a	n/a
15	GATA3	chr12:120739933-120740665	MCF-7	breast:	n/a	n/a
16	E2F6	chr12:120739841-120740655	A549	lung:	n/a	n/a
17	ARID3A	chr12:120739782-120740559	HepG2	liver:	n/a	n/a
18	SP1	chr12:120739704-120740574	HCT-116	colon:	n/a	n/a
19	SIN3AK20	chr12:120739890-120740565	H1-hESC	embryonic stem cell:	n/a	n/a
20	TEAD4	chr12:120739906-120740534	ECC-1	luminal epithelium:	n/a	chr12:120740381-120740390
21	MYBL2	chr12:120739802-120740551	HepG2	liver:	n/a	n/a
22	CEBPB	chr12:120739926-120740593	MCF-7	breast:	n/a	n/a
23	FOXA2	chr12:120739899-120740695	A549	lung:	n/a	n/a
24	SIX5	chr12:120739760-120740559	A549	lung:	n/a	chr12:120740109-120740118 chr12:120740073-120740082 chr12:120740107-120740116
25	BHLHE40	chr12:120739923-120740569	HepG2	liver:	n/a	n/a
26	BCL3	chr12:120739841-120740614	A549	lung:	n/a	chr12:120740312-120740321 chr12:120740313-120740322
27	BCL3	chr12:120739827-120740591	A549	lung:	n/a	chr12:120740312-120740321 chr12:120740313-120740322
28	MAX	chr12:120739765-120740656	A549	lung:	n/a	n/a
29	SP1	chr12:120739756-120740646	A549	lung:	n/a	n/a
30	ETS1	chr12:120739801-120740600	A549	lung:	n/a	chr12:120740067-120740080 chr12:120740105-120740118
31	PBX3	chr12:120739787-120740543	A549	lung:	n/a	n/a
32	HDAC2	chr12:120739813-120740653	MCF-7	breast:	n/a	n/a
33	TCF12	chr12:120739926-120740699	ECC-1	luminal epithelium:	n/a	chr12:120740443-120740452
34	SREBP1	chr12:120739641-120740574	GM12878	blood:	n/a	n/a
35	CREB1	chr12:120739792-120740584	H1-hESC	embryonic stem cell:	n/a	n/a
36	HNF4A	chr12:120740214-120740543	HepG2	liver:	n/a	chr12:120740319-120740331
37	SIN3AK20	chr12:120739847-120740546	A549	lung:	n/a	n/a
38	MAX	chr12:120739911-120740594	SK-N-SH	brain:	n/a	n/a
39	MBD4	chr12:120739882-120740568	HepG2	liver:	n/a	n/a
40	TCF12	chr12:120739829-120740550	A549	lung:	n/a	chr12:120740443-120740452
41	CHD1	chr12:120739715-120740568	IMR90	lung:	n/a	n/a
42	TEAD4	chr12:120739810-120740656	HepG2	liver:	n/a	chr12:120740381-120740390
43	TEAD4	chr12:120739856-120740535	K562	blood:	n/a	chr12:120740381-120740390
44	PBX3	chr12:120739791-120740591	SK-N-SH	brain:	n/a	n/a
45	EP300	chr12:120739820-120740555	A549	lung:	n/a	n/a
46	FOXA2	chr12:120739921-120740700	A549	lung:	n/a	n/a
47	ELF1	chr12:120739784-120740584	MCF-7	breast:	n/a	n/a
48	GATA3	chr12:120739792-120740605	A549	lung:	n/a	n/a
49	POLR2A	chr12:120739839-120740539	PANC-1	pancreas:	n/a	n/a
50	EP300	chr12:120739812-120740635	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120737630..120743237-chr12:120750628..120756565,17	MCF-7	breast:
2	chr12:120739185..120741546-chr12:120749401..120751491,2	K562	blood:

Variant related genes	Relation type
SIRT4	TF binding region
ENSG00000252659	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10849743	0.81[EUR][1000 genomes]
rs11065091	0.85[EUR][1000 genomes]
rs11614028	0.85[EUR][1000 genomes]
rs1179387	0.96[EUR][1000 genomes]
rs1185209	0.81[EUR][1000 genomes]
rs1557769	0.85[EUR][1000 genomes]
rs206951	0.85[EUR][1000 genomes]
rs2522129	0.96[EUR][1000 genomes]
rs2522138	0.96[EUR][1000 genomes]
rs2522141	0.96[EUR][1000 genomes]
rs2696027	0.93[EUR][1000 genomes]
rs3742038	0.80[EUR][1000 genomes]
rs5637	0.96[EUR][1000 genomes]
rs67706074	0.85[EUR][1000 genomes]
rs7314115	0.91[EUR][1000 genomes]
rs73416934	0.85[EUR][1000 genomes]
rs965791	0.80[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	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
7	esv1799498	chr12:120725939-120745740	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	429 gene(s)	inside rSNPs	diseases
8	esv2763006	chr12:120731346-120750746	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	96 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	chr12:120739400-120740800	Active TSS	A549	lung
2	chr12:120739400-120741000	Active TSS	K562	blood
3	chr12:120739600-120740600	Active TSS	Placenta	Placenta
4	chr12:120739600-120740800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr12:120739600-120740800	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr12:120739600-120740800	Active TSS	HepG2	liver
7	chr12:120739600-120741000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:120739600-120741000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:120739600-120741000	Active TSS	Stomach Smooth Muscle	stomach
10	chr12:120739800-120740600	Active TSS	Hela-S3	cervix
11	chr12:120739800-120740800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:120739800-120740800	Active TSS	Fetal Kidney	kidney
13	chr12:120739800-120740800	Active TSS	Right Atrium	heart
14	chr12:120739800-120741000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:120739800-120741000	Active TSS	Brain Anterior Caudate	brain
16	chr12:120739800-120741000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr12:120739800-120741000	Active TSS	Ovary	ovary
18	chr12:120739800-120741000	Active TSS	Psoas Muscle	Psoas
19	chr12:120740000-120740600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr12:120740000-120740600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:120740000-120740600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:120740000-120740600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:120740000-120740600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr12:120740000-120740600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:120740000-120740600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:120740000-120740600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:120740000-120740600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:120740000-120740600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr12:120740000-120740600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:120740000-120740600	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr12:120740000-120740600	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr12:120740000-120740600	Active TSS	Aorta	Aorta
33	chr12:120740000-120740600	Active TSS	Brain Hippocampus Middle	brain
34	chr12:120740000-120740600	Active TSS	Fetal Brain Male	brain
35	chr12:120740000-120740600	Active TSS	Fetal Muscle Trunk	muscle
36	chr12:120740000-120740600	Active TSS	Fetal Muscle Leg	muscle
37	chr12:120740000-120740600	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr12:120740000-120740600	Active TSS	HSMMtube	muscle
39	chr12:120740000-120740600	Active TSS	NH-A	brain
40	chr12:120740000-120740600	Active TSS	NHDF-Ad	bronchial
41	chr12:120740000-120740800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr12:120740000-120740800	Active TSS	H1 Cell Line	embryonic stem cell
43	chr12:120740000-120740800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:120740000-120740800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:120740000-120740800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:120740000-120740800	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr12:120740000-120740800	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr12:120740000-120740800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:120740000-120740800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr12:120740000-120740800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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