Variant report

Variant	rs73304423
Chromosome Location	chr12:48153132-48153133
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	MAX	chr12:48152386-48153668	HCT-116	colon:	n/a	chr12:48152950-48152963 chr12:48152952-48152961 chr12:48152951-48152962 chr12:48152734-48152744 chr12:48152952-48152962 chr12:48152952-48152962
2	SMARCB1	chr12:48152398-48153645	Hela-S3	cervix:	n/a	chr12:48153007-48153016
3	USF1	chr12:48152713-48153156	A549	lung:	n/a	chr12:48153097-48153113 chr12:48152951-48152962
4	FOXA1	chr12:48152644-48153260	HepG2	liver:	n/a	n/a
5	FOSL1	chr12:48152802-48153187	K562	blood:	n/a	chr12:48153007-48153016 chr12:48152930-48152938 chr12:48153006-48153017
6	POLR2A	chr12:48151449-48153264	NB4	blood:	n/a	n/a
7	SMC3	chr12:48152583-48153497	Hela-S3	cervix:	n/a	chr12:48152864-48152874 chr12:48153189-48153199 chr12:48153359-48153366 chr12:48153352-48153366
8	POLR2A	chr12:48152575-48153463	SK-N-MC	brain:	n/a	n/a
9	USF1	chr12:48152623-48153172	SK-N-SH	brain:	n/a	chr12:48153097-48153113 chr12:48152951-48152962
10	FOXM1	chr12:48151523-48153764	ECC-1	luminal epithelium:	n/a	n/a
11	ZNF143	chr12:48152778-48153499	K562	blood:	n/a	n/a
12	UBTF	chr12:48152833-48153485	K562	blood:	n/a	n/a
13	POLR2A	chr12:48152645-48153494	K562	blood:	n/a	n/a
14	CTCF	chr12:48152543-48153543	H1-hESC	embryonic stem cell:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
15	MAX	chr12:48152326-48153584	MCF-7	breast:	n/a	chr12:48152950-48152963 chr12:48152952-48152961 chr12:48152951-48152962 chr12:48152734-48152744 chr12:48152952-48152962 chr12:48152952-48152962
16	USF2	chr12:48152776-48153134	Hela-S3	cervix:	n/a	chr12:48153097-48153113 chr12:48152951-48152962
17	POLR2A	chr12:48152442-48153224	U87	brain:	n/a	n/a
18	TBP	chr12:48152820-48153267	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr12:48152493-48153783	HCT-116	colon:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
20	ESR1	chr12:48152531-48153418	ECC-1	luminal epithelium:	n/a	n/a
21	STAT3	chr12:48152885-48153139	MCF10A-Er-Src	breast:	n/a	chr12:48153000-48153012 chr12:48153054-48153065
22	HEY1	chr12:48152667-48153396	K562	blood:	n/a	n/a
23	CTCF	chr12:48152709-48153571	GM12878	blood:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
24	POLR2A	chr12:48152299-48153408	U87	brain:	n/a	n/a
25	E2F6	chr12:48152432-48153205	A549	lung:	n/a	chr12:48153128-48153135 chr12:48153128-48153135 chr12:48152703-48152712 chr12:48152736-48152745 chr12:48153128-48153135 chr12:48153099-48153109
26	MYC	chr12:48152735-48153432	K562	blood:	n/a	chr12:48152950-48152963 chr12:48152952-48152961 chr12:48152951-48152962 chr12:48152952-48152962 chr12:48152952-48152962
27	FOS	chr12:48152815-48153190	MCF10A-Er-Src	breast:	n/a	chr12:48153007-48153016 chr12:48152930-48152938 chr12:48153006-48153017
28	MAZ	chr12:48152600-48153483	GM12878	blood:	n/a	chr12:48152950-48152963 chr12:48152952-48152961 chr12:48152951-48152962 chr12:48152734-48152744 chr12:48152952-48152962 chr12:48152952-48152962
29	NR2F2	chr12:48152657-48153469	K562	blood:	n/a	n/a
30	RAD21	chr12:48152812-48153365	H1-hESC	embryonic stem cell:	n/a	chr12:48153189-48153199 chr12:48152864-48152874 chr12:48153187-48153199 chr12:48152862-48152875
31	POLR2A	chr12:48152469-48153479	Hela-S3	cervix:	n/a	n/a
32	HDAC2	chr12:48152552-48153584	MCF-7	breast:	n/a	n/a
33	RUNX3	chr12:48152825-48153646	GM12878	blood:	n/a	n/a
34	CTCF	chr12:48152688-48153535	K562	blood:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
35	CTCF	chr12:48151992-48153868	SK-N-SH	brain:	n/a	chr12:48152289-48152302 chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
36	ELF1	chr12:48152656-48153396	K562	blood:	n/a	chr12:48152731-48152743
37	POLR2A	chr12:48152542-48153435	Hela-S3	cervix:	n/a	n/a
38	E2F6	chr12:48152715-48153530	H1-hESC	embryonic stem cell:	n/a	chr12:48153128-48153135 chr12:48153128-48153135 chr12:48152736-48152745 chr12:48153128-48153135 chr12:48153099-48153109
39	FOS	chr12:48152826-48153181	MCF10A-Er-Src	breast:	n/a	chr12:48153007-48153016 chr12:48152930-48152938 chr12:48153006-48153017
40	POLR2A	chr12:48152655-48153231	MCF10A-Er-Src	breast:	n/a	n/a
41	YY1	chr12:48152330-48153541	ECC-1	luminal epithelium:	n/a	chr12:48153191-48153202 chr12:48152736-48152745 chr12:48152730-48152739
42	NFIC	chr12:48151059-48153984	ECC-1	luminal epithelium:	n/a	n/a
43	JUND	chr12:48152737-48153273	A549	lung:	n/a	chr12:48153007-48153016 chr12:48152930-48152938 chr12:48153006-48153017
44	ZNF143	chr12:48152748-48153388	Hela-S3	cervix:	n/a	n/a
45	MAX	chr12:48151077-48153612	ECC-1	luminal epithelium:	n/a	chr12:48152950-48152963 chr12:48151248-48151257 chr12:48152952-48152961 chr12:48152951-48152962 chr12:48152734-48152744 chr12:48152952-48152962 chr12:48152952-48152962
46	HCFC1	chr12:48152730-48153491	K562	blood:	n/a	n/a
47	POLR2A	chr12:48151833-48153387	HUVEC	blood vessel:	n/a	n/a
48	USF1	chr12:48152708-48153162	A549	lung:	n/a	chr12:48153097-48153113 chr12:48152951-48152962
49	FOSL2	chr12:48152759-48153320	MCF-7	breast:	n/a	chr12:48153007-48153016 chr12:48152930-48152938
50	FOXA2	chr12:48152624-48153273	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48153124-48153174	HPAEpiC	pulmonary alveolar:	n/a
2	chr12:48153124-48153174	AG09319	gingival:	n/a
3	chr12:48153086-48153136	GM06990	blood:	n/a
4	chr12:48153086-48153136	AG04450	lung:	fetal
5	chr12:48153124-48153174	GM12878	blood:	n/a
6	chr12:48153086-48153136	NH-A	brain:	n/a
7	chr12:48153124-48153174	ProgFib	skin:	n/a
8	chr12:48153086-48153136	AG10803	skin:	n/a
9	chr12:48153124-48153174	NHDF-neo	bronchial:	n/a
10	chr12:48153086-48153136	Jurkat	blood:	n/a
11	chr12:48153124-48153174	HMEC	breast:	n/a
12	chr12:48153086-48153136	BE2_C	brain:	n/a
13	chr12:48153124-48153174	RPTEC	kidney:	n/a
14	chr12:48153086-48153136	MCF-7	breast:	n/a
15	chr12:48153086-48153136	K562	blood:	n/a
16	chr12:48153086-48153136	HUVEC	blood vessel:	n/a
17	chr12:48153124-48153174	T-47D	breast:	n/a
18	chr12:48153086-48153136	PFSK-1	brain:	n/a
19	chr12:48153124-48153174	PrEC	prostate:	n/a
20	chr12:48153086-48153136	IMR90	lung:	fetal
21	chr12:48153086-48153136	Hela-S3	cervix:	n/a
22	chr12:48153086-48153136	NHDF-neo	bronchial:	n/a
23	chr12:48153086-48153136	GM12891	blood:	n/a
24	chr12:48153086-48153136	AG04449	skin:	fetal
25	chr12:48153086-48153136	SK-N-MC	brain:	n/a
26	chr12:48153124-48153174	PANC-1	pancreas:	n/a
27	chr12:48153086-48153136	H1-hESC	embryonic stem cell:	embryo
28	chr12:48153086-48153136	HL-60	blood:	n/a
29	chr12:48153124-48153174	A549	lung:	n/a
30	chr12:48153086-48153136	HRPEpiC	eye:	n/a
31	chr12:48153124-48153174	HUVEC	blood vessel:	n/a
32	chr12:48153124-48153174	MCF-7	breast:	n/a
33	chr12:48153124-48153174	SK-N-SH_RA	brain:	n/a
34	chr12:48153124-48153174	AG04449	skin:	fetal
35	chr12:48153124-48153174	ovcar-3	ovarian:	n/a
36	chr12:48153124-48153174	HCM	heart:	n/a
37	chr12:48153124-48153174	CMK	blood:	n/a
38	chr12:48153124-48153174	NB4	blood:	n/a
39	chr12:48153124-48153174	HCT-116	colon:	n/a
40	chr12:48153124-48153174	HAEpiC	amniotic membrane:	n/a
41	chr12:48153086-48153136	Caco-2	colon:	n/a
42	chr12:48153086-48153136	HepG2	liver:	n/a
43	chr12:48153086-48153136	AG09319	gingival:	n/a
44	chr12:48153124-48153174	HEK293	kidney:	embryo
45	chr12:48153124-48153174	HCF	heart:	n/a
46	chr12:48153086-48153136	ECC-1	luminal epithelium:	n/a
47	chr12:48153086-48153136	HNPCEpiC	eye:	n/a
48	chr12:48153086-48153136	PrEC	prostate:	n/a
49	chr12:48153086-48153136	HIPEpiC	eye:	n/a
50	chr12:48153086-48153136	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48153014..48156848-chr12:48203481..48206772,3	K562	blood:
2	chr12:48151756..48154631-chr12:48166805..48168592,3	MCF-7	breast:
3	chr12:48146163..48148373-chr12:48150555..48153521,2	K562	blood:
4	chr12:48137493..48138878-chr12:48152464..48153861,18	MCF-7	breast:
5	chr12:48151483..48157972-chr12:48164331..48169743,9	K562	blood:
6	chr12:48115323..48118041-chr12:48153022..48154829,2	MCF-7	breast:
7	chr12:48111105..48111630-chr12:48153104..48154150,3	MCF-7	breast:
8	chr12:48099022..48099877-chr12:48152859..48153391,2	MCF-7	breast:
9	chr12:48151782..48154257-chr12:48166848..48168699,2	MCF-7	breast:
10	chr12:48135721..48136674-chr12:48152904..48153797,3	K562	blood:
11	chr12:48134835..48139182-chr12:48152118..48155732,5	MCF-7	breast:
12	chr12:48135732..48136292-chr12:48152879..48153484,2	MCF-7	breast:
13	chr12:48097907..48100262-chr12:48151350..48154397,3	K562	blood:
14	chr12:48135691..48136363-chr12:48152705..48153606,3	MCF-7	breast:
15	chr12:48152241..48154431-chr12:48164400..48166889,3	K562	blood:

Variant related genes	Relation type
RAPGEF3	TF binding region
RAPGEF3	CpG island
ENSG00000257433	Chromatin interaction
ENSG00000211584	Chromatin interaction
ENSG00000005175	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000111405	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58809255	0.83[EUR][1000 genomes]
rs60915129	0.86[EUR][1000 genomes]
rs73302702	0.84[EUR][1000 genomes]
rs73304403	0.86[EUR][1000 genomes]
rs73304409	0.86[EUR][1000 genomes]
rs734706	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
4	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv527470	chr12:48119955-48190166	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 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	chr12:48149000-48153800	Active TSS	Psoas Muscle	Psoas
2	chr12:48149800-48153200	Active TSS	Left Ventricle	heart
3	chr12:48149800-48153600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:48151000-48153200	Active TSS	Lung	lung
5	chr12:48151000-48153600	Flanking Active TSS	Fetal Muscle Leg	muscle
6	chr12:48151000-48154200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:48151200-48153200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:48151200-48153600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:48151200-48153600	Enhancers	Fetal Brain Male	brain
10	chr12:48151200-48153800	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr12:48151400-48153400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:48151400-48153400	Active TSS	Fetal Kidney	kidney
13	chr12:48151400-48153600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr12:48151400-48153600	Flanking Active TSS	Placenta	Placenta
15	chr12:48151400-48153600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr12:48151400-48153600	Flanking Active TSS	HMEC	breast
17	chr12:48151600-48153400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:48151600-48153400	Active TSS	Brain Angular Gyrus	brain
19	chr12:48151600-48153800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr12:48151800-48153200	Active TSS	Right Atrium	heart
21	chr12:48151800-48153400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:48151800-48153400	Active TSS	Brain Hippocampus Middle	brain
23	chr12:48151800-48153800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:48152000-48153200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr12:48152000-48153200	Active TSS	Brain Substantia Nigra	brain
26	chr12:48152000-48153200	Active TSS	Ovary	ovary
27	chr12:48152000-48153400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr12:48152000-48153400	Flanking Active TSS	Thymus	Thymus
29	chr12:48152200-48153200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr12:48152200-48153200	Active TSS	Brain Cingulate Gyrus	brain
31	chr12:48152200-48153400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr12:48152200-48153400	Active TSS	Aorta	Aorta
33	chr12:48152200-48153600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:48152200-48153600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:48152200-48153600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr12:48152200-48153600	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr12:48152200-48153600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr12:48152200-48153600	Flanking Bivalent TSS/Enh	Dnd41	blood
39	chr12:48152200-48153800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr12:48152400-48153200	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr12:48152400-48153200	Active TSS	Primary T cells from cord blood	blood
42	chr12:48152400-48153200	Active TSS	Placenta Amnion	Placenta Amnion
43	chr12:48152400-48153400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:48152400-48153400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:48152400-48153400	Active TSS	Gastric	stomach
46	chr12:48152400-48153600	Active TSS	H9 Cell Line	embryonic stem cell
47	chr12:48152400-48153600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr12:48152400-48153600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:48152400-48153600	Active TSS	Brain Anterior Caudate	brain
50	chr12:48152400-48153600	Active TSS	Colon Smooth Muscle	Colon

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