Variant report

Variant	rs58274150
Chromosome Location	chr12:122186668-122186669
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	SIN3AK20	chr12:122186440-122187363	MCF-7	breast:	n/a	n/a
2	USF1	chr12:122186460-122187130	A549	lung:	n/a	n/a
3	MAX	chr12:122186082-122187393	MCF-7	breast:	n/a	chr12:122186697-122186708
4	MAX	chr12:122186077-122187479	A549	lung:	n/a	chr12:122186697-122186708
5	POLR2A	chr12:122185684-122186695	A549	lung:	n/a	n/a
6	SP1	chr12:122186109-122187332	A549	lung:	n/a	chr12:122187020-122187034
7	MAZ	chr12:122186100-122187497	IMR90	lung:	n/a	chr12:122186697-122186708
8	MYBL2	chr12:122186566-122187291	HepG2	liver:	n/a	n/a
9	ATF3	chr12:122186598-122187199	K562	blood:	n/a	n/a
10	NR3C1	chr12:122186379-122187067	A549	lung:	n/a	chr12:122186880-122186906 chr12:122186593-122186600 chr12:122187002-122187011 chr12:122186622-122186631
11	ATF3	chr12:122186372-122187225	A549	lung:	n/a	n/a
12	CREB1	chr12:122186068-122187186	A549	lung:	n/a	n/a
13	CBX3	chr12:122186272-122187455	K562	blood:	n/a	chr12:122187076-122187087
14	FOXA2	chr12:122186364-122187155	A549	lung:	n/a	n/a
15	JUN	chr12:122186101-122187534	K562	blood:	n/a	chr12:122186877-122186886 chr12:122186693-122186702 chr12:122186873-122186886
16	ZNF217	chr12:122186334-122187258	MCF-7	breast:	n/a	n/a
17	JUND	chr12:122186218-122187280	A549	lung:	n/a	chr12:122186877-122186886 chr12:122186693-122186702
18	FOS	chr12:122186612-122187281	HUVEC	blood vessel:	n/a	chr12:122187001-122187012 chr12:122186877-122186886 chr12:122186693-122186702
19	JUN	chr12:122186582-122187168	HUVEC	blood vessel:	n/a	chr12:122186877-122186886 chr12:122186693-122186702 chr12:122186873-122186886
20	TBL1XR1	chr12:122186489-122187164	K562	blood:	n/a	n/a
21	GATA3	chr12:122186226-122187175	MCF-7	breast:	n/a	chr12:122186477-122186484 chr12:122186475-122186485 chr12:122186475-122186484
22	E2F6	chr12:122186094-122187204	A549	lung:	n/a	chr12:122186694-122186703
23	ESR1	chr12:122186581-122187217	T-47D	breast:	n/a	chr12:122186926-122186941 chr12:122186965-122186980 chr12:122186965-122186982
24	TEAD4	chr12:122186224-122187321	K562	blood:	n/a	chr12:122186496-122186505
25	POLR2A	chr12:122185723-122186718	A549	lung:	n/a	n/a
26	FOXM1	chr12:122186157-122187333	MCF-7	breast:	n/a	n/a
27	FOSL2	chr12:122186528-122187254	SK-N-SH	brain:	n/a	chr12:122186877-122186886 chr12:122186693-122186702
28	CREB1	chr12:122186341-122187470	HepG2	liver:	n/a	n/a
29	GABPA	chr12:122186408-122187276	MCF-7	breast:	n/a	n/a
30	CREB1	chr12:122186119-122187271	K562	blood:	n/a	n/a
31	CEBPB	chr12:122186455-122187204	MCF-7	breast:	n/a	n/a
32	HDAC2	chr12:122186457-122187264	MCF-7	breast:	n/a	chr12:122186476-122186485
33	NR3C1	chr12:122186349-122187180	A549	lung:	n/a	chr12:122186880-122186906 chr12:122186593-122186600 chr12:122187002-122187011 chr12:122186622-122186631
34	ESR1	chr12:122186434-122187143	T-47D	breast:	n/a	chr12:122186926-122186941 chr12:122186965-122186980 chr12:122186965-122186982
35	EP300	chr12:122186097-122187324	A549	lung:	n/a	n/a
36	MAFK	chr12:122186611-122187174	HepG2	liver:	n/a	chr12:122187001-122187010 chr12:122187001-122187011
37	MAX	chr12:122186091-122187400	A549	lung:	n/a	chr12:122186697-122186708
38	GATA3	chr12:122186308-122186911	T-47D	breast:	n/a	chr12:122186477-122186484 chr12:122186475-122186485 chr12:122186475-122186484
39	MAX	chr12:122186169-122187024	A549	lung:	n/a	chr12:122186697-122186708
40	FOSL2	chr12:122186353-122187156	A549	lung:	n/a	chr12:122186877-122186886 chr12:122186693-122186702
41	NR3C1	chr12:122185755-122187151	A549	lung:	n/a	chr12:122186880-122186906 chr12:122186593-122186600 chr12:122187002-122187011 chr12:122186622-122186631
42	NR3C1	chr12:122185701-122187286	A549	lung:	n/a	chr12:122186880-122186906 chr12:122186593-122186600 chr12:122187002-122187011 chr12:122186622-122186631 chr12:122187227-122187240
43	JUN	chr12:122186555-122187188	K562	blood:	n/a	chr12:122186877-122186886 chr12:122186693-122186702 chr12:122186873-122186886
44	TEAD4	chr12:122186257-122187297	A549	lung:	n/a	chr12:122186496-122186505
45	NR3C1	chr12:122185670-122187292	A549	lung:	n/a	chr12:122186880-122186906 chr12:122186593-122186600 chr12:122187002-122187011 chr12:122186622-122186631 chr12:122187227-122187240
46	E2F6	chr12:122186223-122187110	K562	blood:	n/a	chr12:122186694-122186703
47	NR2F2	chr12:122186193-122187273	MCF-7	breast:	n/a	n/a
48	POLR2A	chr12:122186643-122187209	HUVEC	blood vessel:	n/a	n/a
49	SIN3AK20	chr12:122186356-122187273	A549	lung:	n/a	n/a
50	CEBPB	chr12:122186628-122187075	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122149421..122152814-chr12:122185119..122186671,3	MCF-7	breast:
2	chr12:122186394..122187383-chr12:123554322..123555067,2	MCF-7	breast:
3	chr12:122140564..122141337-chr12:122186461..122187284,3	MCF-7	breast:
4	chr12:122184924..122187179-chr12:122189642..122193871,5	K562	blood:
5	chr12:122180307..122182295-chr12:122185324..122187863,3	K562	blood:
6	chr12:122185135..122187179-chr12:122190114..122193871,4	K562	blood:
7	chr12:116828326..116828938-chr12:122186633..122187345,3	MCF-7	breast:
8	chr12:122184835..122196012-chr12:122235281..122245445,27	MCF-7	breast:
9	chr12:122181102..122183945-chr12:122184844..122187780,3	MCF-7	breast:
10	chr12:122133742..122136740-chr12:122185481..122187047,2	MCF-7	breast:
11	chr12:121836861..121838700-chr12:122185043..122186944,2	K562	blood:
12	chr12:122148459..122151159-chr12:122185562..122188129,3	K562	blood:
13	chr12:122134794..122135634-chr12:122186324..122187082,2	MCF-7	breast:
14	chr12:122170327..122173309-chr12:122186416..122187977,2	K562	blood:
15	chr12:122147215..122155218-chr12:122185094..122190846,22	MCF-7	breast:
16	chr12:122186548..122187486-chr12:122230661..122231592,4	MCF-7	breast:
17	chr12:122181727..122184365-chr12:122185006..122187114,3	MCF-7	breast:
18	chr12:122180307..122183056-chr12:122185275..122189745,5	K562	blood:
19	chr12:122186440..122186968-chr12:122237161..122237850,2	MCF-7	breast:
20	chr12:122186484..122187293-chr12:122675389..122676074,2	MCF-7	breast:
21	chr12:122186590..122187486-chr12:122230711..122231592,3	MCF-7	breast:
22	chr12:122186493..122188379-chr12:122211134..122213755,2	K562	blood:
23	chr12:122185267..122187971-chr12:122239677..122241444,2	MCF-7	breast:
24	chr12:122185243..122188214-chr12:122238983..122240823,2	K562	blood:
25	chr12:122184667..122189513-chr12:122211148..122219682,10	MCF-7	breast:

Variant related genes	Relation type
TMEM120B	TF binding region
ENSG00000089053	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000170633	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000272849	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1107243	0.80[EUR][1000 genomes]
rs28656299	0.92[EUR][1000 genomes]
rs3970421	0.97[EUR][1000 genomes]
rs55775605	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56379201	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56959328	0.92[EUR][1000 genomes]
rs57318156	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57611711	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58534280	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58986108	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61230721	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6486775	0.80[EUR][1000 genomes]
rs7294817	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7310523	0.80[EUR][1000 genomes]
rs7313408	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73411779	0.92[EUR][1000 genomes]
rs73411780	0.92[EUR][1000 genomes]
rs73411782	0.92[EUR][1000 genomes]
rs73411785	0.92[EUR][1000 genomes]
rs73411786	0.97[EUR][1000 genomes]
rs7957751	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7962125	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7965407	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7968717	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7978536	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7980551	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9737587	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9739927	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[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	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
3	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
4	esv3500918	chr12:122183269-122188067	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv3495976	chr12:122184069-122186867	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv2625237	chr12:122184959-122186755	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv560472	chr12:122185258-122190385	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv560489	chr12:122185616-122190385	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58274150	RHOF	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122152000-122188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:122152200-122188000	Weak transcription	Brain Germinal Matrix	brain
3	chr12:122152200-122188000	Weak transcription	Dnd41	blood
4	chr12:122152200-122191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:122152200-122191600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:122152200-122200200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:122152400-122188000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:122154200-122200400	Weak transcription	Psoas Muscle	Psoas
9	chr12:122159400-122194800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:122163600-122188000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:122163600-122188200	Weak transcription	Brain Anterior Caudate	brain
12	chr12:122164800-122188200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:122174200-122191800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:122176600-122187200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:122179800-122211000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:122180200-122191400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:122181200-122188200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:122183000-122186800	Weak transcription	NHEK	skin
19	chr12:122183200-122188000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:122183200-122188600	Weak transcription	GM12878-XiMat	blood
21	chr12:122183800-122224400	Weak transcription	Small Intestine	intestine
22	chr12:122184800-122188400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:122184800-122191600	Weak transcription	Brain Substantia Nigra	brain
24	chr12:122184800-122208000	Weak transcription	Colonic Mucosa	Colon
25	chr12:122185000-122187200	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:122185000-122191400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:122185400-122188000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:122185800-122188600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:122186000-122187000	Genic enhancers	Right Ventricle	heart
30	chr12:122186000-122187600	Enhancers	Fetal Thymus	thymus
31	chr12:122186200-122186800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:122186200-122186800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:122186200-122186800	Genic enhancers	Adipose Nuclei	Adipose
34	chr12:122186200-122186800	Genic enhancers	Gastric	stomach
35	chr12:122186200-122186800	Genic enhancers	Left Ventricle	heart
36	chr12:122186200-122186800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
37	chr12:122186200-122186800	Genic enhancers	Spleen	Spleen
38	chr12:122186200-122187000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:122186200-122187000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:122186200-122187000	Genic enhancers	Muscle Satellite Cultured Cells	--
41	chr12:122186200-122187000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:122186200-122187000	Enhancers	Fetal Heart	heart
43	chr12:122186200-122187000	Genic enhancers	Fetal Muscle Leg	muscle
44	chr12:122186200-122187000	Enhancers	Placenta	Placenta
45	chr12:122186200-122187000	Genic enhancers	Fetal Stomach	stomach
46	chr12:122186200-122187000	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr12:122186200-122187000	Enhancers	NHDF-Ad	bronchial
48	chr12:122186200-122187200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:122186200-122187200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:122186200-122187200	Genic enhancers	HUES6 Cell Line	embryonic stem cell

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