Variant report

Variant	rs572705782
Chromosome Location	chr12:123636112-123636113
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	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	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
4	RAD21	chr12:123634918-123636290	IMR90	lung:	n/a	chr12:123635261-123635274
5	JUND	chr12:123635382-123636376	A549	lung:	n/a	chr12:123635514-123635523 chr12:123635489-123635498
6	SIN3AK20	chr12:123635440-123636321	PANC-1	pancreas:	n/a	n/a
7	YY1	chr12:123636025-123636276	HepG2	liver:	n/a	chr12:123636127-123636141 chr12:123636156-123636170
8	POLR2A	chr12:123635798-123636479	U87	brain:	n/a	n/a
9	CHD1	chr12:123635864-123636113	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:123635554-123636272	HUVEC	blood vessel:	n/a	n/a
11	MTA3	chr12:123635763-123636971	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:123636058-123636494	HepG2	liver:	n/a	n/a
13	CCNT2	chr12:123634810-123636248	K562	blood:	n/a	chr12:123634810-123634819
14	TCF12	chr12:123635591-123636347	A549	lung:	n/a	n/a
15	POLR2A	chr12:123636007-123636813	K562	blood:	n/a	n/a
16	CTCF	chr12:123636060-123636210	GM12870	blood:	n/a	n/a
17	POLR2A	chr12:123635667-123637029	PANC-1	pancreas:	n/a	n/a
18	RUNX3	chr12:123635878-123636120	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:123634850-123637088	K562	blood:	n/a	n/a
20	POLR2A	chr12:123635871-123638687	K562	blood:	n/a	n/a
21	CTCF	chr12:123634644-123636349	SK-N-SH	brain:	n/a	chr12:123635144-123635157 chr12:123636264-123636273
22	POLR2A	chr12:123635654-123636538	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr12:123636009-123636214	A549	lung:	n/a	n/a
24	MXI1	chr12:123635400-123636125	HepG2	liver:	n/a	n/a
25	CTCF	chr12:123636060-123636210	AG09319	gingival:	n/a	n/a
26	BCL3	chr12:123635797-123636581	GM12878	blood:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
27	SRF	chr12:123636084-123636731	ECC-1	luminal epithelium:	n/a	chr12:123636416-123636427 chr12:123636415-123636426 chr12:123636417-123636426 chr12:123636413-123636427
28	POLR2A	chr12:123635938-123636220	HepG2	liver:	n/a	n/a
29	CTCF	chr12:123635980-123636130	HMEC	breast:	n/a	n/a
30	BCL3	chr12:123635804-123636673	A549	lung:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
31	POLR2A	chr12:123635728-123636485	U87	brain:	n/a	n/a
32	UBTF	chr12:123633939-123636396	K562	blood:	n/a	n/a
33	POLR2A	chr12:123635104-123636192	ProgFib	skin:	n/a	n/a
34	POLR2A	chr12:123636008-123636228	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:123635655-123637074	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr12:123634935-123636356	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr12:123636020-123636170	SAEC	small airway:	n/a	n/a
38	POLR2A	chr12:123635827-123636603	HL-60	blood:	n/a	n/a
39	FOSL2	chr12:123635918-123636705	HepG2	liver:	n/a	n/a
40	MXI1	chr12:123634450-123636293	IMR90	lung:	n/a	n/a
41	CTCF	chr12:123635285-123636728	A549	lung:	n/a	chr12:123636446-123636455 chr12:123636264-123636273
42	BCLAF1	chr12:123636108-123636415	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:123635791-123636771	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:123635973-123636582	GM19193	blood:	n/a	n/a
45	TAF1	chr12:123635325-123636178	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr12:123634264-123636428	A549	lung:	n/a	chr12:123635502-123635517 chr12:123635004-123635011 chr12:123635756-123635766 chr12:123635000-123635009
47	POLR2A	chr12:123635916-123636786	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:123635551-123636635	PFSK-1	brain:	n/a	n/a
49	ZBTB7A	chr12:123635606-123636331	ECC-1	luminal epithelium:	n/a	n/a
50	PAX5	chr12:123635399-123636208	GM12892	blood:	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	chr12:123318440..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	chr12:123568355..123570038-chr12:123635637..123637696,2	MCF-7	breast:
11	chr12:123574871..123577625-chr12:123635000..123637260,3	MCF-7	breast:
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
ENSG00000051825	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000130787	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123633800-123636200	Active TSS	NHLF	lung
2	chr12:123633800-123636400	Active TSS	Brain Cingulate Gyrus	brain
3	chr12:123633800-123636600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr12:123634000-123636400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:123634200-123636400	Active TSS	Brain Anterior Caudate	brain
6	chr12:123634400-123636200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr12:123634400-123636200	Active TSS	Rectal Smooth Muscle	rectum
8	chr12:123634400-123636400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:123634400-123636400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:123634400-123636600	Active TSS	Colon Smooth Muscle	Colon
11	chr12:123634600-123636200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:123634600-123636200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:123634600-123636200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:123634600-123636200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:123634600-123636200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:123634600-123636200	Active TSS	Brain Angular Gyrus	brain
17	chr12:123634600-123636200	Active TSS	Gastric	stomach
18	chr12:123634600-123636200	Active TSS	Small Intestine	intestine
19	chr12:123634600-123636200	Active TSS	A549	lung
20	chr12:123634600-123636200	Active TSS	Hela-S3	cervix
21	chr12:123634600-123636200	Active TSS	NHDF-Ad	bronchial
22	chr12:123634600-123636400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:123634600-123636400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr12:123634600-123636400	Active TSS	Aorta	Aorta
25	chr12:123634600-123636400	Active TSS	Left Ventricle	heart
26	chr12:123634600-123636400	Active TSS	Ovary	ovary
27	chr12:123634600-123636600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:123634800-123636200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:123634800-123636200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr12:123634800-123636200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:123634800-123636200	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr12:123634800-123636200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:123634800-123636200	Active TSS	Pancreas	Pancrea
34	chr12:123634800-123636200	Active TSS	NHEK	skin
35	chr12:123634800-123636200	Active TSS	Osteobl	bone
36	chr12:123634800-123636400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr12:123634800-123636400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:123634800-123636400	Active TSS	Esophagus	oesophagus
39	chr12:123634800-123636400	Active TSS	Fetal Brain Female	brain
40	chr12:123634800-123636400	Active TSS	Right Atrium	heart
41	chr12:123634800-123636600	Active TSS	HSMM	muscle
42	chr12:123634800-123636600	Active TSS	HSMMtube	muscle
43	chr12:123634800-123636800	Active TSS	Thymus	Thymus
44	chr12:123635000-123636200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr12:123635000-123636200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:123635000-123636200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:123635000-123636200	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr12:123635000-123636200	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr12:123635000-123636200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:123635000-123636200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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