Variant report

Variant	rs535051249
Chromosome Location	chr12:63328585-63328586
allele	A/G
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	SP1	chr12:63328576-63329322	A549	lung:	n/a	chr12:63329029-63329038 chr12:63328827-63328836 chr12:63328825-63328837 chr12:63328826-63328835 chr12:63328977-63328989 chr12:63328978-63328987 chr12:63328826-63328835 chr12:63328977-63328989 chr12:63328979-63328988 chr12:63329028-63329039 chr12:63328826-63328840
2	MAX	chr12:63328163-63329320	Hela-S3	cervix:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63328924-63328933
3	POLR2A	chr12:63328502-63329053	A549	lung:	n/a	n/a
4	CREB1	chr12:63328185-63329187	A549	lung:	n/a	n/a
5	POLR2A	chr12:63328128-63329107	NB4	blood:	n/a	n/a
6	ELF1	chr12:63328514-63329129	K562	blood:	n/a	chr12:63328706-63328718 chr12:63328558-63328570
7	TBP	chr12:63328246-63329183	K562	blood:	n/a	n/a
8	ZEB1	chr12:63326895-63329453	HepG2	liver:	n/a	chr12:63329095-63329107 chr12:63329096-63329107
9	UBTF	chr12:63327632-63329147	K562	blood:	n/a	n/a
10	ATF3	chr12:63328522-63329137	A549	lung:	n/a	chr12:63328924-63328933 chr12:63328827-63328836
11	MAX	chr12:63327017-63329477	A549	lung:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
12	POLR2A	chr12:63327949-63329244	MCF-7	breast:	n/a	n/a
13	HA-E2F1	chr12:63326823-63329443	MCF-7	breast:	n/a	chr12:63327280-63327287 chr12:63328820-63328835 chr12:63328824-63328836 chr12:63328892-63328902 chr12:63328827-63328836 chr12:63328554-63328563
14	SIN3AK20	chr12:63328235-63329238	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr12:63328510-63329093	K562	blood:	n/a	n/a
16	POLR2A	chr12:63328094-63329141	A549	lung:	n/a	n/a
17	RAD21	chr12:63327902-63328589	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTBP2	chr12:63328080-63329265	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr12:63328104-63329123	K562	blood:	n/a	chr12:63328554-63328563 chr12:63328706-63328720 chr12:63328827-63328836 chr12:63328551-63328565 chr12:63328245-63328254 chr12:63329061-63329070 chr12:63328554-63328568 chr12:63328597-63328611 chr12:63328711-63328720 chr12:63328669-63328683 chr12:63328555-63328569
20	POLR2A	chr12:63328497-63329065	HCT-116	colon:	n/a	n/a
21	MAZ	chr12:63327643-63329318	K562	blood:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
22	ZNF143	chr12:63328097-63329292	H1-hESC	embryonic stem cell:	n/a	chr12:63328523-63328533 chr12:63328558-63328568 chr12:63328576-63328594
23	REST	chr12:63327942-63329046	HL-60	blood:	n/a	chr12:63328186-63328204 chr12:63328536-63328549 chr12:63328229-63328242
24	CTCF	chr12:63328500-63328650	HepG2	liver:	n/a	chr12:63328545-63328558 chr12:63328548-63328561
25	EP300	chr12:63328345-63329238	ECC-1	luminal epithelium:	n/a	chr12:63328524-63328540 chr12:63328836-63328852 chr12:63328558-63328567
26	TAF1	chr12:63328582-63329151	A549	lung:	n/a	n/a
27	TAF1	chr12:63327999-63329357	ECC-1	luminal epithelium:	n/a	n/a
28	YY1	chr12:63328045-63329219	ECC-1	luminal epithelium:	n/a	chr12:63328554-63328563 chr12:63328706-63328720 chr12:63328827-63328836 chr12:63328551-63328565 chr12:63328245-63328254 chr12:63329061-63329070 chr12:63328554-63328568 chr12:63328597-63328611 chr12:63328711-63328720 chr12:63328669-63328683 chr12:63328555-63328569
29	MAX	chr12:63327821-63328602	ECC-1	luminal epithelium:	n/a	chr12:63328552-63328562 chr12:63327895-63327905
30	EP300	chr12:63327681-63329383	ECC-1	luminal epithelium:	n/a	chr12:63328524-63328540 chr12:63328836-63328852 chr12:63329304-63329314 chr12:63327741-63327755 chr12:63328246-63328255 chr12:63328558-63328567
31	BACH1	chr12:63328322-63329341	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr12:63327672-63329329	K562	blood:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
33	POLR2A	chr12:63328210-63329287	ECC-1	luminal epithelium:	n/a	n/a
34	HDAC2	chr12:63328570-63329055	K562	blood:	n/a	n/a
35	MAX	chr12:63327924-63329494	HCT-116	colon:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63328924-63328933
36	POLR2A	chr12:63327689-63329320	MCF-7	breast:	n/a	n/a
37	MAX	chr12:63327826-63329295	K562	blood:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
38	CTCF	chr12:63327749-63329511	A549	lung:	n/a	chr12:63328666-63328679 chr12:63328545-63328558 chr12:63328548-63328561
39	SIN3A	chr12:63326943-63329353	H1-hESC	embryonic stem cell:	n/a	chr12:63328666-63328677
40	TCF12	chr12:63327895-63329441	A549	lung:	n/a	n/a
41	SMARCB1	chr12:63328013-63329320	Hela-S3	cervix:	n/a	n/a
42	BHLHE40	chr12:63326926-63329361	K562	blood:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328667-63328683 chr12:63328526-63328542 chr12:63328523-63328539 chr12:63328885-63328901
43	POLR2A	chr12:63327985-63329290	H1-neurons	neurons:	n/a	n/a
44	CCNT2	chr12:63328126-63329198	K562	blood:	n/a	chr12:63328979-63328988 chr12:63329029-63329038 chr12:63328827-63328836
45	MYC	chr12:63327623-63329348	K562	blood:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
46	RCOR1	chr12:63327950-63329202	IMR90	lung:	n/a	n/a
47	POLR2A	chr12:63328234-63329309	HepG2	liver:	n/a	n/a
48	E2F6	chr12:63328496-63329228	K562	blood:	n/a	chr12:63328820-63328835 chr12:63328824-63328836 chr12:63328892-63328902 chr12:63328827-63328836 chr12:63328554-63328563
49	MAX	chr12:63328171-63329383	HCT-116	colon:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63328924-63328933
50	MAX	chr12:63326953-63329378	MCF-7	breast:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:63328556-63328606	RPTEC	kidney:	n/a
2	chr12:63328556-63328606	HRPEpiC	eye:	n/a
3	chr12:63328556-63328606	HEK293	kidney:	embryo
4	chr12:63328556-63328606	CMK	blood:	n/a
5	chr12:63328556-63328606	NHBE	bronchial:	n/a
6	chr12:63328556-63328606	HMEC	breast:	n/a
7	chr12:63328556-63328606	GM12891	blood:	n/a
8	chr12:63328556-63328606	H1-hESC	embryonic stem cell:	embryo
9	chr12:63328556-63328606	HAEpiC	amniotic membrane:	n/a
10	chr12:63328556-63328606	AG04449	skin:	fetal
11	chr12:63328556-63328606	GM06990	blood:	n/a
12	chr12:63328556-63328606	ECC-1	luminal epithelium:	n/a
13	chr12:63328556-63328606	A549	lung:	n/a
14	chr12:63328556-63328606	HCT-116	colon:	n/a
15	chr12:63328556-63328606	SKMC	muscle:	n/a
16	chr12:63328556-63328606	AG09319	gingival:	n/a
17	chr12:63328556-63328606	NHDF-neo	bronchial:	n/a
18	chr12:63328556-63328606	Hepatocyte	liver:	n/a
19	chr12:63328556-63328606	Caco-2	colon:	n/a
20	chr12:63328556-63328606	HRE	kidney:	n/a
21	chr12:63328556-63328606	HCPEpiC	choroid plexus:	n/a
22	chr12:63328556-63328606	HEEpiC	esophagus:	n/a
23	chr12:63328556-63328606	HRCEpiC	kidney:	n/a
24	chr12:63328556-63328606	AG04450	lung:	fetal
25	chr12:63328556-63328606	MCF10A-Er-Src	breast:	n/a
26	chr12:63328556-63328606	AoSMC	blood vessel:	n/a
27	chr12:63328556-63328606	HNPCEpiC	eye:	n/a
28	chr12:63328556-63328606	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:63328556-63328606	ovcar-3	ovarian:	n/a
30	chr12:63328556-63328606	T-47D	breast:	n/a
31	chr12:63328556-63328606	GM12892	blood:	n/a
32	chr12:63328556-63328606	NT2-D1	testis:	n/a
33	chr12:63328556-63328606	PFSK-1	brain:	n/a
34	chr12:63328556-63328606	BJ	skin:	n/a
35	chr12:63328556-63328606	SK-N-SH_RA	brain:	n/a
36	chr12:63328556-63328606	Hela-S3	cervix:	n/a
37	chr12:63328556-63328606	BE2_C	brain:	n/a
38	chr12:63328556-63328606	HCM	heart:	n/a
39	chr12:63328556-63328606	K562	blood:	n/a
40	chr12:63328556-63328606	HL-60	blood:	n/a
41	chr12:63328556-63328606	SAEC	small airway:	n/a
42	chr12:63328556-63328606	SK-N-MC	brain:	n/a
43	chr12:63328556-63328606	HCF	heart:	n/a
44	chr12:63328556-63328606	ProgFib	skin:	n/a
45	chr12:63328556-63328606	GM19239	blood:	n/a
46	chr12:63328556-63328606	PANC-1	pancreas:	n/a
47	chr12:63328556-63328606	AG10803	skin:	n/a
48	chr12:63328556-63328606	MCF-7	breast:	n/a
49	chr12:63328556-63328606	AG09309	skin:	n/a
50	chr12:63328556-63328606	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:62995343..62997102-chr12:63326865..63328948,2	K562	blood:
2	chr12:63325863..63329962-chr12:63356030..63360907,6	MCF-7	breast:
3	chr12:63327630..63329589-chr12:63447421..63451204,3	MCF-7	breast:
4	chr12:62996812..62998536-chr12:63327281..63329321,2	MCF-7	breast:
5	chr12:63326223..63329085-chr20:52208224..52210688,2	MCF-7	breast:

Variant related genes	Relation type
PPM1H	TF binding region
ENSG00000252660	TF binding region
ENSG00000252660	CpG island
PPM1H	CpG island
ENSG00000257664	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000257354	Chromatin interaction
ENSG00000139239	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv899162	chr12:63279750-63334242	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	esv3355722	chr12:63327210-63330258	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3378901	chr12:63327535-63330133	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63326400-63329200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:63326400-63329400	Active TSS	Brain Angular Gyrus	brain
3	chr12:63326600-63329200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:63326600-63330000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr12:63326800-63328600	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr12:63326800-63329000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:63326800-63329400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr12:63326800-63329400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr12:63326800-63329400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:63326800-63329400	Active TSS	Psoas Muscle	Psoas
11	chr12:63326800-63329400	Active TSS	Right Ventricle	heart
12	chr12:63326800-63329400	Active TSS	Stomach Mucosa	stomach
13	chr12:63326800-63329600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr12:63327000-63328600	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr12:63327000-63329000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:63327000-63329000	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:63327000-63329200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr12:63327000-63329200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr12:63327000-63329200	Active TSS	Aorta	Aorta
20	chr12:63327000-63329200	Active TSS	Brain Anterior Caudate	brain
21	chr12:63327000-63329200	Active TSS	Osteobl	bone
22	chr12:63327000-63329400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:63327000-63329400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:63327000-63329400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:63327000-63329400	Active TSS	Gastric	stomach
26	chr12:63327000-63329400	Active TSS	Left Ventricle	heart
27	chr12:63327000-63329600	Active TSS	Brain Hippocampus Middle	brain
28	chr12:63327000-63329600	Active TSS	Fetal Kidney	kidney
29	chr12:63327200-63328800	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr12:63327200-63329200	Active TSS	Colon Smooth Muscle	Colon
31	chr12:63327200-63329200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr12:63327200-63329400	Active TSS	Brain Cingulate Gyrus	brain
33	chr12:63327200-63329400	Active TSS	Brain Substantia Nigra	brain
34	chr12:63327200-63329400	Active TSS	Ovary	ovary
35	chr12:63327200-63329400	Active TSS	Pancreas	Pancrea
36	chr12:63327400-63328600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:63327400-63329000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:63327400-63329000	Active TSS	HSMM	muscle
39	chr12:63327400-63329200	Active TSS	Lung	lung
40	chr12:63327400-63329200	Active TSS	A549	lung
41	chr12:63327400-63329200	Active TSS	K562	blood
42	chr12:63327400-63329400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:63327400-63329400	Active TSS	Fetal Heart	heart
44	chr12:63327400-63329400	Active TSS	HSMMtube	muscle
45	chr12:63327600-63328600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr12:63327600-63329200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:63327600-63329400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:63327800-63328600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
49	chr12:63327800-63328600	Flanking Bivalent TSS/Enh	HMEC	breast
50	chr12:63327800-63329000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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