Variant report

Variant	rs558735434
Chromosome Location	chr12:123635785-123635786
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	MYC	chr12:123635471-123635937	K562	blood:	n/a	chr12:123635502-123635517 chr12:123635756-123635766
2	POLR2A	chr12:123635740-123636398	ECC-1	luminal epithelium:	n/a	n/a
3	MAZ	chr12:123635660-123635799	HepG2	liver:	n/a	chr12:123635756-123635766
4	ZBTB7A	chr12:123635750-123636440	ECC-1	luminal epithelium:	n/a	n/a
5	FOXP2	chr12:123635504-123635878	PFSK-1	brain:	n/a	n/a
6	EP300	chr12:123635377-123636127	SK-N-SH	brain:	n/a	chr12:123635747-123635763 chr12:123635878-123635887 chr12:123635495-123635504 chr12:123635925-123635941 chr12:123635677-123635686 chr12:123635490-123635499
7	ELF1	chr12:123635354-123635933	K562	blood:	n/a	chr12:123635493-123635502 chr12:123635528-123635540 chr12:123635757-123635769 chr12:123635761-123635770 chr12:123635675-123635684 chr12:123635496-123635505 chr12:123635881-123635890
8	RAD21	chr12:123634918-123636290	IMR90	lung:	n/a	chr12:123635261-123635274
9	E2F1	chr12:123635372-123635830	Hela-S3	cervix:	n/a	chr12:123635755-123635764 chr12:123635494-123635504
10	JUND	chr12:123635382-123636376	A549	lung:	n/a	chr12:123635514-123635523 chr12:123635489-123635498
11	SIN3AK20	chr12:123635440-123636321	PANC-1	pancreas:	n/a	n/a
12	REST	chr12:123635414-123635794	ECC-1	luminal epithelium:	n/a	chr12:123635583-123635592
13	HA-E2F1	chr12:123634958-123635928	Hela-S3	cervix:	n/a	chr12:123635154-123635164 chr12:123635884-123635893 chr12:123635879-123635889 chr12:123635755-123635764 chr12:123635494-123635504
14	CTCF	chr12:123635660-123635810	GM12875	blood:	n/a	n/a
15	CTCF	chr12:123635519-123635789	GM12892	blood:	n/a	n/a
16	EGR1	chr12:123635588-123636085	K562	blood:	n/a	chr12:123635714-123635728 chr12:123635757-123635767 chr12:123635754-123635764 chr12:123635901-123635911 chr12:123635873-123635886
17	POLR2A	chr12:123635554-123636272	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr12:123635441-123635891	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr12:123635690-123635916	GM12878	blood:	n/a	n/a
20	CTCF	chr12:123635529-123635792	GM19239	blood:	n/a	n/a
21	POLR2A	chr12:123635544-123635893	MCF-7	breast:	n/a	n/a
22	MTA3	chr12:123635763-123636971	GM12878	blood:	n/a	n/a
23	RAD21	chr12:123635521-123635793	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr12:123635763-123635988	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr12:123635526-123635954	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:123635603-123635978	U87	brain:	n/a	n/a
27	UBTF	chr12:123634016-123635929	K562	blood:	n/a	n/a
28	CCNT2	chr12:123634810-123636248	K562	blood:	n/a	chr12:123634810-123634819
29	TCF12	chr12:123635591-123636347	A549	lung:	n/a	n/a
30	ETS1	chr12:123635547-123635905	K562	blood:	n/a	chr12:123635761-123635772 chr12:123635761-123635777 chr12:123635879-123635890 chr12:123635673-123635684 chr12:123635755-123635766
31	MAX	chr12:123634385-123635947	A549	lung:	n/a	chr12:123635502-123635517 chr12:123635004-123635011 chr12:123635756-123635766 chr12:123635000-123635009
32	POLR2A	chr12:123635667-123637029	PANC-1	pancreas:	n/a	n/a
33	E2F6	chr12:123634835-123635861	K562	blood:	n/a	chr12:123634869-123634881 chr12:123635154-123635164 chr12:123635755-123635764 chr12:123635494-123635504
34	POLR2A	chr12:123634850-123637088	K562	blood:	n/a	n/a
35	CTCF	chr12:123635365-123635875	K562	blood:	n/a	n/a
36	MAX	chr12:123635325-123635832	K562	blood:	n/a	chr12:123635502-123635517 chr12:123635756-123635766
37	MAZ	chr12:123635519-123635849	Hela-S3	cervix:	n/a	chr12:123635756-123635766
38	CTCF	chr12:123634644-123636349	SK-N-SH	brain:	n/a	chr12:123635144-123635157 chr12:123636264-123636273
39	HDAC2	chr12:123635527-123635793	HepG2	liver:	n/a	n/a
40	YY1	chr12:123635391-123635835	HCT-116	colon:	n/a	chr12:123635496-123635505 chr12:123635753-123635767 chr12:123635761-123635770 chr12:123635749-123635763 chr12:123635493-123635502 chr12:123635675-123635684 chr12:123635494-123635505 chr12:123635750-123635764 chr12:123635755-123635764 chr12:123635490-123635504 chr12:123635675-123635689
41	POLR2A	chr12:123635654-123636538	SK-N-MC	brain:	n/a	n/a
42	MXI1	chr12:123635400-123636125	HepG2	liver:	n/a	n/a
43	CREB1	chr12:123635121-123636039	A549	lung:	n/a	n/a
44	POLR2A	chr12:123635171-123636012	NB4	blood:	n/a	n/a
45	TAF1	chr12:123635353-123635857	K562	blood:	n/a	n/a
46	POLR2A	chr12:123635728-123636485	U87	brain:	n/a	n/a
47	CTCF	chr12:123635406-123635805	Pancreas_OC	pancreas:	n/a	n/a
48	POLR2A	chr12:123635448-123635798	Gliobla	brain:	n/a	n/a
49	GABPA	chr12:123635488-123636035	K562	blood:	n/a	chr12:123635490-123635499
50	UBTF	chr12:123633939-123636396	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123635770-123635820	HCPEpiC	choroid plexus:	n/a
2	chr12:123635770-123635820	AoSMC	blood vessel:	n/a
3	chr12:123635770-123635820	HCT-116	colon:	n/a
4	chr12:123635770-123635820	HAEpiC	amniotic membrane:	n/a
5	chr12:123635770-123635820	HNPCEpiC	eye:	n/a
6	chr12:123635770-123635820	HRPEpiC	eye:	n/a
7	chr12:123635770-123635820	SAEC	small airway:	n/a
8	chr12:123635770-123635820	RPTEC	kidney:	n/a
9	chr12:123635770-123635820	GM12891	blood:	n/a
10	chr12:123635770-123635820	BE2_C	brain:	n/a
11	chr12:123635770-123635820	NB4	blood:	n/a
12	chr12:123635770-123635820	AG09309	skin:	n/a
13	chr12:123635770-123635820	HL-60	blood:	n/a
14	chr12:123635770-123635820	HIPEpiC	eye:	n/a
15	chr12:123635770-123635820	IMR90	lung:	fetal
16	chr12:123635770-123635820	SK-N-MC	brain:	n/a
17	chr12:123635770-123635820	HCF	heart:	n/a
18	chr12:123635770-123635820	AG09319	gingival:	n/a
19	chr12:123635770-123635820	A549	lung:	n/a
20	chr12:123635770-123635820	NHDF-neo	bronchial:	n/a
21	chr12:123635770-123635820	HUVEC	blood vessel:	n/a
22	chr12:123635770-123635820	AG04450	lung:	fetal
23	chr12:123635770-123635820	Caco-2	colon:	n/a
24	chr12:123635770-123635820	HMEC	breast:	n/a
25	chr12:123635770-123635820	NT2-D1	testis:	n/a
26	chr12:123635770-123635820	GM19239	blood:	n/a
27	chr12:123635770-123635820	HepG2	liver:	n/a
28	chr12:123635770-123635820	HRE	kidney:	n/a
29	chr12:123635770-123635820	NH-A	brain:	n/a
30	chr12:123635770-123635820	CMK	blood:	n/a
31	chr12:123635770-123635820	Hepatocyte	liver:	n/a
32	chr12:123635770-123635820	SK-N-SH_RA	brain:	n/a
33	chr12:123635770-123635820	HEK293	kidney:	embryo
34	chr12:123635770-123635820	ProgFib	skin:	n/a
35	chr12:123635770-123635820	HCM	heart:	n/a
36	chr12:123635770-123635820	PANC-1	pancreas:	n/a
37	chr12:123635770-123635820	GM12892	blood:	n/a
38	chr12:123635770-123635820	H1-hESC	embryonic stem cell:	embryo
39	chr12:123635770-123635820	MCF-7	breast:	n/a
40	chr12:123635770-123635820	GM06990	blood:	n/a
41	chr12:123635770-123635820	PFSK-1	brain:	n/a
42	chr12:123635770-123635820	U87	brain:	n/a
43	chr12:123635770-123635820	T-47D	breast:	n/a
44	chr12:123635770-123635820	AG04449	skin:	fetal
45	chr12:123635770-123635820	SK-N-SH	brain:	n/a
46	chr12:123635770-123635820	LNCaP	prostate:	n/a
47	chr12:123635770-123635820	GM12878	blood:	n/a
48	chr12:123635770-123635820	HEEpiC	esophagus:	n/a
49	chr12:123635770-123635820	AG10803	skin:	n/a
50	chr12:123635770-123635820	HRCEpiC	kidney:	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	chr12:123318440..123320805-chr12:123633475..123636263,2	MCF-7	breast:
8	chr12:123461071..123463448-chr12:123634660..123637484,2	K562	blood:
9	chr12:123634123..123636368-chr12:123714378..123717139,2	MCF-7	breast:
10	chr12:123459026..123459635-chr12:123635355..123635887,2	K562	blood:
11	chr12:123568355..123570038-chr12:123635637..123637696,2	MCF-7	breast:
12	chr12:123574871..123577625-chr12:123635000..123637260,3	MCF-7	breast:
13	chr12:123560007..123560783-chr12:123635231..123636092,3	MCF-7	breast:
14	chr12:123634522..123637208-chr12:123639726..123642249,4	K562	blood:
15	chr12:123314439..123317163-chr12:123634963..123637139,2	K562	blood:
16	chr12:123635702..123637213-chr14:50040000..50041712,2	MCF-7	breast:
17	chr12:123634053..123636860-chr12:123645111..123649875,5	MCF-7	breast:
18	chr12:123635735..123637727-chr12:123641892..123644139,3	MCF-7	breast:
19	chr12:123634793..123637876-chr12:123640152..123646460,6	MCF-7	breast:
20	chr12:123526656..123529148-chr12:123634939..123636869,3	MCF-7	breast:
21	chr12:123635131..123637261-chr12:123715659..123718138,3	K562	blood:
22	chr12:123635116..123639048-chr12:123716065..123719246,5	K562	blood:
23	chr12:123445391..123447218-chr12:123635321..123636848,2	K562	blood:
24	chr12:123527678..123528374-chr12:123635168..123636082,3	MCF-7	breast:
25	chr12:123463900..123466022-chr12:123633750..123636695,4	K562	blood:
26	chr12:123463900..123467066-chr12:123633750..123636695,4	K562	blood:
27	chr12:123540726..123542900-chr12:123635050..123636986,3	MCF-7	breast:
28	chr12:123588003..123590511-chr12:123634129..123636612,2	MCF-7	breast:

Variant related genes	Relation type
PITPNM2	TF binding region
PITPNM2	CpG island
ENSG00000090975	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000182196	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123633800-123636000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr12:123633800-123636200	Active TSS	NHLF	lung
3	chr12:123633800-123636400	Active TSS	Brain Cingulate Gyrus	brain
4	chr12:123633800-123636600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr12:123634000-123636000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:123634000-123636400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr12:123634200-123636400	Active TSS	Brain Anterior Caudate	brain
8	chr12:123634400-123636000	Weak transcription	Fetal Kidney	kidney
9	chr12:123634400-123636200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr12:123634400-123636200	Active TSS	Rectal Smooth Muscle	rectum
11	chr12:123634400-123636400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:123634400-123636400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr12:123634400-123636600	Active TSS	Colon Smooth Muscle	Colon
14	chr12:123634600-123636000	Active TSS	Primary T cells from cord blood	blood
15	chr12:123634600-123636200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:123634600-123636200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:123634600-123636200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:123634600-123636200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:123634600-123636200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:123634600-123636200	Active TSS	Brain Angular Gyrus	brain
21	chr12:123634600-123636200	Active TSS	Gastric	stomach
22	chr12:123634600-123636200	Active TSS	Small Intestine	intestine
23	chr12:123634600-123636200	Active TSS	A549	lung
24	chr12:123634600-123636200	Active TSS	Hela-S3	cervix
25	chr12:123634600-123636200	Active TSS	NHDF-Ad	bronchial
26	chr12:123634600-123636400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:123634600-123636400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr12:123634600-123636400	Active TSS	Aorta	Aorta
29	chr12:123634600-123636400	Active TSS	Left Ventricle	heart
30	chr12:123634600-123636400	Active TSS	Ovary	ovary
31	chr12:123634600-123636600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:123634800-123635800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr12:123634800-123635800	Weak transcription	Fetal Lung	lung
34	chr12:123634800-123636000	Active TSS	HepG2	liver
35	chr12:123634800-123636000	Active TSS	K562	blood
36	chr12:123634800-123636200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:123634800-123636200	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr12:123634800-123636200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:123634800-123636200	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr12:123634800-123636200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:123634800-123636200	Active TSS	Pancreas	Pancrea
42	chr12:123634800-123636200	Active TSS	NHEK	skin
43	chr12:123634800-123636200	Active TSS	Osteobl	bone
44	chr12:123634800-123636400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr12:123634800-123636400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:123634800-123636400	Active TSS	Esophagus	oesophagus
47	chr12:123634800-123636400	Active TSS	Fetal Brain Female	brain
48	chr12:123634800-123636400	Active TSS	Right Atrium	heart
49	chr12:123634800-123636600	Active TSS	HSMM	muscle
50	chr12:123634800-123636600	Active TSS	HSMMtube	muscle

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