Variant report

Variant	rs11043180
Chromosome Location	chr12:122150539-122150540
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	CREB1	chr12:122150412-122151364	H1-hESC	embryonic stem cell:	n/a	n/a
2	CREB1	chr12:122150427-122150894	ECC-1	luminal epithelium:	n/a	n/a
3	USF1	chr12:122150402-122150730	SK-N-SH_RA	brain:	n/a	n/a
4	POLR2A	chr12:122150017-122150974	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:122150243-122150695	SK-N-MC	brain:	n/a	n/a
6	MAX	chr12:122150343-122151301	SK-N-SH	brain:	n/a	chr12:122151243-122151253 chr12:122151055-122151064 chr12:122150725-122150734 chr12:122150663-122150672
7	PBX3	chr12:122149948-122150868	A549	lung:	n/a	n/a
8	IRF1	chr12:122150357-122150878	K562	blood:	n/a	chr12:122150572-122150586 chr12:122150577-122150591
9	ZBTB7A	chr12:122150362-122150547	HepG2	liver:	n/a	n/a
10	MAX	chr12:122150027-122151289	NB4	blood:	n/a	chr12:122151243-122151253 chr12:122151055-122151064 chr12:122150725-122150734 chr12:122150663-122150672
11	MAX	chr12:122150143-122151248	MCF-7	breast:	n/a	chr12:122151055-122151064 chr12:122150725-122150734 chr12:122150663-122150672
12	POLR2A	chr12:122149887-122150990	GM12892	blood:	n/a	n/a
13	TAF1	chr12:122150367-122150988	HepG2	liver:	n/a	n/a
14	YY1	chr12:122150236-122150936	GM12892	blood:	n/a	chr12:122150732-122150743 chr12:122150713-122150727 chr12:122150246-122150260 chr12:122150772-122150786
15	POLR2A	chr12:122150336-122150920	HepG2	liver:	n/a	n/a
16	GTF2F1	chr12:122150197-122150550	Hela-S3	cervix:	n/a	n/a
17	HCFC1	chr12:122150065-122151116	K562	blood:	n/a	n/a
18	TAF1	chr12:122149946-122150675	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr12:122150260-122150937	GM12878	blood:	n/a	chr12:122150732-122150743 chr12:122150713-122150727 chr12:122150772-122150786
20	TBP	chr12:122150322-122150687	HepG2	liver:	n/a	n/a
21	ZBTB7A	chr12:122150143-122151510	ECC-1	luminal epithelium:	n/a	chr12:122151397-122151411
22	RUNX3	chr12:122150351-122150936	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:122150210-122150623	GM12891	blood:	n/a	n/a
24	POLR2A	chr12:122150288-122150659	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYBL2	chr12:122150183-122150668	HepG2	liver:	n/a	n/a
26	POU2F2	chr12:122150281-122150663	GM12891	blood:	n/a	n/a
27	CEBPD	chr12:122150274-122150692	HepG2	liver:	n/a	n/a
28	HDAC2	chr12:122150072-122150555	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr12:122150151-122151180	A549	lung:	n/a	n/a
30	POLR2A	chr12:122150264-122150878	HepG2	liver:	n/a	n/a
31	POLR2A	chr12:122150348-122150596	GM12891	blood:	n/a	n/a
32	POLR2A	chr12:122150213-122151090	MCF-7	breast:	n/a	n/a
33	EGR1	chr12:122150524-122150837	GM12878	blood:	n/a	chr12:122150717-122150730
34	SIN3AK20	chr12:122149953-122150596	A549	lung:	n/a	n/a
35	POLR2A	chr12:122150079-122150901	K562	blood:	n/a	n/a
36	MAX	chr12:122150223-122151206	GM12878	blood:	n/a	chr12:122151055-122151064 chr12:122150725-122150734 chr12:122150663-122150672
37	POLR2A	chr12:122150228-122151265	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr12:122150197-122150888	GM12878	blood:	n/a	n/a
39	TCF12	chr12:122150456-122150886	GM12878	blood:	n/a	n/a
40	STAT5A	chr12:122150262-122150593	GM12878	blood:	n/a	chr12:122150464-122150473 chr12:122150575-122150587 chr12:122150465-122150474
41	SIN3AK20	chr12:122149852-122151405	MCF-7	breast:	n/a	n/a
42	POLR2A	chr12:122150200-122150876	K562	blood:	n/a	n/a
43	POLR2A	chr12:122150308-122150959	GM12891	blood:	n/a	n/a
44	E2F6	chr12:122150464-122150794	K562	blood:	n/a	chr12:122150651-122150660 chr12:122150766-122150776 chr12:122150587-122150596
45	CEBPB	chr12:122150357-122150946	Hela-S3	cervix:	n/a	n/a
46	YY1	chr12:122150301-122150749	SK-N-SH_RA	brain:	n/a	chr12:122150732-122150743 chr12:122150713-122150727
47	BHLHE40	chr12:122150284-122150831	HepG2	liver:	n/a	chr12:122150767-122150783
48	POU2F2	chr12:122150201-122150737	GM12878	blood:	n/a	n/a
49	MAX	chr12:122150343-122151418	H1-hESC	embryonic stem cell:	n/a	chr12:122151243-122151253 chr12:122151055-122151064 chr12:122150725-122150734 chr12:122150663-122150672
50	MAZ	chr12:122149925-122152630	IMR90	lung:	n/a	chr12:122151934-122151943 chr12:122151932-122151943 chr12:122151933-122151942 chr12:122151243-122151253 chr12:122151931-122151944 chr12:122151055-122151064 chr12:122151932-122151943 chr12:122150725-122150734 chr12:122151932-122151942 chr12:122150663-122150672 chr12:122151931-122151944

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122150491-122150541	IMR90	lung:	fetal
2	chr12:122150514-122150564	HIPEpiC	eye:	n/a
3	chr12:122150491-122150541	GM12891	blood:	n/a
4	chr12:122150491-122150541	GM12892	blood:	n/a
5	chr12:122150491-122150541	HRCEpiC	kidney:	n/a
6	chr12:122150491-122150541	HCPEpiC	choroid plexus:	n/a
7	chr12:122150514-122150564	ovcar-3	ovarian:	n/a
8	chr12:122150491-122150541	Caco-2	colon:	n/a
9	chr12:122150514-122150564	HMEC	breast:	n/a
10	chr12:122150514-122150564	PFSK-1	brain:	n/a
11	chr12:122150514-122150564	AoSMC	blood vessel:	n/a
12	chr12:122150514-122150564	HRCEpiC	kidney:	n/a
13	chr12:122150514-122150564	HCPEpiC	choroid plexus:	n/a
14	chr12:122150491-122150541	NB4	blood:	n/a
15	chr12:122150491-122150541	HPAEpiC	pulmonary alveolar:	n/a
16	chr12:122150514-122150564	Jurkat	blood:	n/a
17	chr12:122150514-122150564	GM12891	blood:	n/a
18	chr12:122150514-122150564	HL-60	blood:	n/a
19	chr12:122150491-122150541	MCF-7	breast:	n/a
20	chr12:122150514-122150564	HUVEC	blood vessel:	n/a
21	chr12:122150491-122150541	HNPCEpiC	eye:	n/a
22	chr12:122150514-122150564	Caco-2	colon:	n/a
23	chr12:122150491-122150541	GM12878	blood:	n/a
24	chr12:122150514-122150564	HAEpiC	amniotic membrane:	n/a
25	chr12:122150491-122150541	U87	brain:	n/a
26	chr12:122150514-122150564	GM06990	blood:	n/a
27	chr12:122150514-122150564	HCM	heart:	n/a
28	chr12:122150514-122150564	SK-N-MC	brain:	n/a
29	chr12:122150491-122150541	MCF10A-Er-Src	breast:	n/a
30	chr12:122150491-122150541	PFSK-1	brain:	n/a
31	chr12:122150491-122150541	SKMC	muscle:	n/a
32	chr12:122150514-122150564	MCF10A-Er-Src	breast:	n/a
33	chr12:122150491-122150541	PANC-1	pancreas:	n/a
34	chr12:122150491-122150541	HUVEC	blood vessel:	n/a
35	chr12:122150514-122150564	Hela-S3	cervix:	n/a
36	chr12:122150514-122150564	GM12892	blood:	n/a
37	chr12:122150491-122150541	H1-hESC	embryonic stem cell:	embryo
38	chr12:122150514-122150564	AG09309	skin:	n/a
39	chr12:122150514-122150564	GM12878	blood:	n/a
40	chr12:122150514-122150564	NHDF-neo	bronchial:	n/a
41	chr12:122150514-122150564	SAEC	small airway:	n/a
42	chr12:122150514-122150564	HPAEpiC	pulmonary alveolar:	n/a
43	chr12:122150514-122150564	CMK	blood:	n/a
44	chr12:122150491-122150541	RPTEC	kidney:	n/a
45	chr12:122150514-122150564	U87	brain:	n/a
46	chr12:122150514-122150564	H1-hESC	embryonic stem cell:	embryo
47	chr12:122150514-122150564	GM19239	blood:	n/a
48	chr12:122150491-122150541	ovcar-3	ovarian:	n/a
49	chr12:122150514-122150564	PANC-1	pancreas:	n/a
50	chr12:122150491-122150541	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122148985..122154094-chr12:122210649..122217008,11	MCF-7	breast:
2	chr12:122149249..122152147-chr12:122229581..122233327,7	MCF-7	breast:
3	chr12:122148639..122153380-chr12:122238008..122242328,5	MCF-7	breast:
4	chr12:122149069..122151072-chr12:122242291..122244324,2	MCF-7	breast:
5	chr11:85955821..85956367-chr12:122150370..122150929,2	NB4	blood:
6	chr12:122147215..122155218-chr12:122185094..122190846,22	MCF-7	breast:
7	chr12:122145450..122152863-chr12:122233897..122241914,16	MCF-7	breast:
8	chr12:121974472..121977117-chr12:122150068..122152069,2	MCF-7	breast:
9	chr12:122150220..122151057-chr6:26188979..26189750,2	NB4	blood:
10	chr11:62420365..62421322-chr12:122150183..122150817,2	NB4	blood:
11	chr12:122150096..122150704-chr7:98922914..98923914,2	NB4	blood:

Variant related genes	Relation type
TMEM120B	TF binding region
TMEM120B	CpG island
ENSG00000089094	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000074266	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000188987	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000241685	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10840612	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11043179	0.81[AMR][1000 genomes]
rs2137434	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2458402	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2466145	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2669166	0.83[AMR][1000 genomes]
rs2720024	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2942379	0.83[AMR][1000 genomes]
rs2954111	0.87[ASN][1000 genomes]
rs2954112	0.87[ASN][1000 genomes]
rs7967415	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs925531	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr12:122149400-122151800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:122149600-122150800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:122149600-122150800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:122149600-122151000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:122149600-122151000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr12:122149600-122151200	Active TSS	Left Ventricle	heart
7	chr12:122149600-122151200	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr12:122149600-122151200	Active TSS	Rectal Smooth Muscle	rectum
9	chr12:122149600-122151400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:122149600-122151400	Active TSS	Pancreas	Pancrea
11	chr12:122149600-122151400	Active TSS	Right Atrium	heart
12	chr12:122149600-122151600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr12:122149600-122151800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:122149600-122152200	Active TSS	HSMM	muscle
15	chr12:122149800-122150600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr12:122149800-122150800	Active TSS	Brain Germinal Matrix	brain
17	chr12:122149800-122150800	Active TSS	Colonic Mucosa	Colon
18	chr12:122149800-122150800	Active TSS	Lung	lung
19	chr12:122149800-122151000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:122149800-122151000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:122149800-122151000	Active TSS	Fetal Heart	heart
22	chr12:122149800-122151000	Active TSS	Placenta	Placenta
23	chr12:122149800-122151200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:122149800-122151200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr12:122149800-122151200	Active TSS	Esophagus	oesophagus
26	chr12:122149800-122151200	Active TSS	Fetal Brain Male	brain
27	chr12:122149800-122151200	Active TSS	Fetal Brain Female	brain
28	chr12:122149800-122151200	Active TSS	Right Ventricle	heart
29	chr12:122149800-122151400	Active TSS	H1 Cell Line	embryonic stem cell
30	chr12:122149800-122151400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:122149800-122151400	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr12:122149800-122151400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:122149800-122151400	Active TSS	Aorta	Aorta
34	chr12:122149800-122151600	Active TSS	Fetal Lung	lung
35	chr12:122149800-122151600	Active TSS	Ovary	ovary
36	chr12:122149800-122151600	Active TSS	NHDF-Ad	bronchial
37	chr12:122149800-122151800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr12:122149800-122151800	Active TSS	Fetal Kidney	kidney
39	chr12:122149800-122152000	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr12:122149800-122152000	Active TSS	Psoas Muscle	Psoas
41	chr12:122149800-122152200	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr12:122149800-122152200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:122149800-122152200	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr12:122150000-122150600	Active TSS	Stomach Mucosa	stomach
45	chr12:122150000-122150600	Bivalent/Poised TSS	HepG2	liver
46	chr12:122150000-122151000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:122150000-122151200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:122150000-122151200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr12:122150000-122151200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:122150000-122151200	Active TSS	Colon Smooth Muscle	Colon

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