Variant report

Variant	rs548433547
Chromosome Location	chr12:123636350-123636351
allele	A/C
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	chr12:123635740-123636398	ECC-1	luminal epithelium:	n/a	n/a
2	ZBTB7A	chr12:123635750-123636440	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr12:123636202-123636761	GM12891	blood:	n/a	n/a
4	JUND	chr12:123635382-123636376	A549	lung:	n/a	chr12:123635514-123635523 chr12:123635489-123635498
5	POLR2A	chr12:123635798-123636479	U87	brain:	n/a	n/a
6	MTA3	chr12:123635763-123636971	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:123636058-123636494	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:123636007-123636813	K562	blood:	n/a	n/a
9	POLR2A	chr12:123636239-123636794	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:123635667-123637029	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr12:123634850-123637088	K562	blood:	n/a	n/a
12	SMC3	chr12:123636346-123636423	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:123635871-123638687	K562	blood:	n/a	n/a
14	POLR2A	chr12:123635654-123636538	SK-N-MC	brain:	n/a	n/a
15	BCL3	chr12:123635797-123636581	GM12878	blood:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
16	SRF	chr12:123636084-123636731	ECC-1	luminal epithelium:	n/a	chr12:123636416-123636427 chr12:123636415-123636426 chr12:123636417-123636426 chr12:123636413-123636427
17	BCL3	chr12:123635804-123636673	A549	lung:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
18	POLR2A	chr12:123635728-123636485	U87	brain:	n/a	n/a
19	UBTF	chr12:123633939-123636396	K562	blood:	n/a	n/a
20	POLR2A	chr12:123635655-123637074	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr12:123634935-123636356	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr12:123635827-123636603	HL-60	blood:	n/a	n/a
23	FOSL2	chr12:123635918-123636705	HepG2	liver:	n/a	n/a
24	CTCF	chr12:123635285-123636728	A549	lung:	n/a	chr12:123636446-123636455 chr12:123636264-123636273
25	BCLAF1	chr12:123636108-123636415	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:123635791-123636771	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr12:123635973-123636582	GM19193	blood:	n/a	n/a
28	MAX	chr12:123634264-123636428	A549	lung:	n/a	chr12:123635502-123635517 chr12:123635004-123635011 chr12:123635756-123635766 chr12:123635000-123635009
29	POLR2A	chr12:123635916-123636786	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:123635551-123636635	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr12:123635795-123637073	HL-60	blood:	n/a	n/a
32	BCL3	chr12:123635853-123636704	A549	lung:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
33	POLR2A	chr12:123635576-123636406	HUVEC	blood vessel:	n/a	n/a
34	SRF	chr12:123635887-123636630	ECC-1	luminal epithelium:	n/a	chr12:123636416-123636427 chr12:123636415-123636426 chr12:123636417-123636426 chr12:123636413-123636427
35	POLR2A	chr12:123636050-123636437	K562	blood:	n/a	n/a
36	MAZ	chr12:123634723-123636549	IMR90	lung:	n/a	chr12:123635502-123635517 chr12:123635004-123635011 chr12:123635756-123635766 chr12:123635000-123635009
37	POLR2A	chr12:123635587-123636446	PFSK-1	brain:	n/a	n/a
38	ZNF263	chr12:123635772-123636902	HEK293-T-REx	kidney:	n/a	chr12:123635832-123635841
39	SIN3A	chr12:123635444-123636629	H1-hESC	embryonic stem cell:	n/a	chr12:123636133-123636146 chr12:123635450-123635461 chr12:123636524-123636532 chr12:123636518-123636531
40	POLR2A	chr12:123635169-123636599	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr12:123635568-123637092	K562	blood:	n/a	n/a
42	PML	chr12:123635994-123636603	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:123635758-123636805	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:123635983-123636865	GM12878	blood:	n/a	n/a
45	POLR2A	chr12:123636019-123636880	GM12892	blood:	n/a	n/a
46	POLR2A	chr12:123636215-123636402	HepG2	liver:	n/a	n/a
47	POLR2A	chr12:123635903-123636516	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123634064..123637299-chr12:123639365..123644376,5	K562	blood:
2	chr12:123552676..123554200-chr12:123634961..123636565,2	K562	blood:
3	chr12:123517171..123520609-chr12:123634791..123638617,3	K562	blood:
4	chr12:123617700..123620555-chr12:123634870..123636855,3	MCF-7	breast:
5	chr12:123547606..123549243-chr12:123635108..123637286,2	MCF-7	breast:
6	chr12:123634768..123637262-chr12:124085657..124088192,2	K562	blood:
7	chr12:123461071..123463448-chr12:123634660..123637484,2	K562	blood:
8	chr12:123634123..123636368-chr12:123714378..123717139,2	MCF-7	breast:
9	chr12:123568355..123570038-chr12:123635637..123637696,2	MCF-7	breast:
10	chr12:123574871..123577625-chr12:123635000..123637260,3	MCF-7	breast:
11	chr12:123636212..123638464-chr12:123674064..123676672,2	K562	blood:
12	chr12:123634522..123637208-chr12:123639726..123642249,4	K562	blood:
13	chr12:123314439..123317163-chr12:123634963..123637139,2	K562	blood:
14	chr12:123635702..123637213-chr14:50040000..50041712,2	MCF-7	breast:
15	chr12:123635970..123638934-chr12:124084716..124087509,2	MCF-7	breast:
16	chr12:123634053..123636860-chr12:123645111..123649875,5	MCF-7	breast:
17	chr12:123635735..123637727-chr12:123641892..123644139,3	MCF-7	breast:
18	chr12:123634793..123637876-chr12:123640152..123646460,6	MCF-7	breast:
19	chr12:123526656..123529148-chr12:123634939..123636869,3	MCF-7	breast:
20	chr12:123635131..123637261-chr12:123715659..123718138,3	K562	blood:
21	chr12:123635116..123639048-chr12:123716065..123719246,5	K562	blood:
22	chr12:123445391..123447218-chr12:123635321..123636848,2	K562	blood:
23	chr12:123463900..123466022-chr12:123633750..123636695,4	K562	blood:
24	chr12:123463900..123467066-chr12:123633750..123636695,4	K562	blood:
25	chr12:123540726..123542900-chr12:123635050..123636986,3	MCF-7	breast:
26	chr12:123588003..123590511-chr12:123634129..123636612,2	MCF-7	breast:

Variant related genes	Relation type
PITPNM2	TF binding region
ENSG00000182196	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000150967	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv3439435	chr12:123634349-123637047	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3440997	chr12:123634424-123637372	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123633800-123636400	Active TSS	Brain Cingulate Gyrus	brain
2	chr12:123633800-123636600	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr12:123634000-123636400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:123634200-123636400	Active TSS	Brain Anterior Caudate	brain
5	chr12:123634400-123636400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:123634400-123636400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr12:123634400-123636600	Active TSS	Colon Smooth Muscle	Colon
8	chr12:123634600-123636400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:123634600-123636400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr12:123634600-123636400	Active TSS	Aorta	Aorta
11	chr12:123634600-123636400	Active TSS	Left Ventricle	heart
12	chr12:123634600-123636400	Active TSS	Ovary	ovary
13	chr12:123634600-123636600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:123634800-123636400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:123634800-123636400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:123634800-123636400	Active TSS	Esophagus	oesophagus
17	chr12:123634800-123636400	Active TSS	Fetal Brain Female	brain
18	chr12:123634800-123636400	Active TSS	Right Atrium	heart
19	chr12:123634800-123636600	Active TSS	HSMM	muscle
20	chr12:123634800-123636600	Active TSS	HSMMtube	muscle
21	chr12:123634800-123636800	Active TSS	Thymus	Thymus
22	chr12:123635000-123636400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:123635000-123636400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr12:123635000-123636400	Active TSS	Brain Substantia Nigra	brain
25	chr12:123635000-123636400	Active TSS	Psoas Muscle	Psoas
26	chr12:123635000-123636400	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr12:123635000-123636600	Active TSS	Colonic Mucosa	Colon
28	chr12:123635800-123636400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr12:123635800-123636400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr12:123635800-123636600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:123635800-123636600	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr12:123635800-123636600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr12:123635800-123636600	Flanking Bivalent TSS/Enh	Dnd41	blood
34	chr12:123636000-123636400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:123636000-123636400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:123636000-123636400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:123636000-123636400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
38	chr12:123636000-123636400	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr12:123636000-123636400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr12:123636000-123636400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr12:123636000-123636400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:123636000-123636400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:123636000-123636400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:123636000-123636400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:123636000-123636400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:123636000-123636400	Flanking Active TSS	Liver	Liver
47	chr12:123636000-123636400	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr12:123636000-123636400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr12:123636000-123636400	Active TSS	Fetal Kidney	kidney
50	chr12:123636000-123636400	Flanking Active TSS	Fetal Muscle Leg	muscle

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