Variant report

Variant	rs564058733
Chromosome Location	chr12:63328759-63328760
allele	G/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	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	chr12:63328604-63329224	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr12:63328672-63329078	HepG2	liver:	n/a	n/a
5	NR2F2	chr12:63328609-63329336	K562	blood:	n/a	n/a
6	SIN3AK20	chr12:63328645-63329141	K562	blood:	n/a	n/a
7	POLR2A	chr12:63328502-63329053	A549	lung:	n/a	n/a
8	CREB1	chr12:63328185-63329187	A549	lung:	n/a	n/a
9	POLR2A	chr12:63328624-63329307	HCT-116	colon:	n/a	n/a
10	RAD21	chr12:63328673-63329304	HepG2	liver:	n/a	chr12:63328829-63328839 chr12:63328803-63328817
11	RCOR1	chr12:63328731-63329443	Hela-S3	cervix:	n/a	n/a
12	MYC	chr12:63328659-63329281	MCF-7	breast:	n/a	chr12:63328681-63328691 chr12:63328924-63328933
13	HEY1	chr12:63328600-63329060	K562	blood:	n/a	chr12:63328638-63328653
14	POLR2A	chr12:63328128-63329107	NB4	blood:	n/a	n/a
15	USF1	chr12:63328664-63329353	K562	blood:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328667-63328683 chr12:63328885-63328901
16	BCL3	chr12:63328759-63329150	A549	lung:	n/a	chr12:63329124-63329137 chr12:63328884-63328897 chr12:63329075-63329083 chr12:63328890-63328899 chr12:63328891-63328904
17	RAD21	chr12:63328697-63329253	HepG2	liver:	n/a	chr12:63328829-63328839 chr12:63328803-63328817
18	ELF1	chr12:63328514-63329129	K562	blood:	n/a	chr12:63328706-63328718 chr12:63328558-63328570
19	TBP	chr12:63328246-63329183	K562	blood:	n/a	n/a
20	USF1	chr12:63328687-63329392	A549	lung:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328885-63328901
21	ZEB1	chr12:63326895-63329453	HepG2	liver:	n/a	chr12:63329095-63329107 chr12:63329096-63329107
22	UBTF	chr12:63327632-63329147	K562	blood:	n/a	n/a
23	TBP	chr12:63328733-63329295	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF3	chr12:63328522-63329137	A549	lung:	n/a	chr12:63328924-63328933 chr12:63328827-63328836
25	PML	chr12:63328645-63329028	K562	blood:	n/a	n/a
26	MAX	chr12:63327017-63329477	A549	lung:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
27	POLR2A	chr12:63327949-63329244	MCF-7	breast:	n/a	n/a
28	HCFC1	chr12:63328666-63329201	K562	blood:	n/a	n/a
29	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
30	USF1	chr12:63328723-63329392	K562	blood:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328885-63328901
31	POLR2A	chr12:63328596-63329094	Hela-S3	cervix:	n/a	n/a
32	CBX3	chr12:63328676-63329433	HCT-116	colon:	n/a	n/a
33	SIN3AK20	chr12:63328235-63329238	PANC-1	pancreas:	n/a	n/a
34	RCOR1	chr12:63328739-63329268	HepG2	liver:	n/a	n/a
35	POLR2A	chr12:63328510-63329093	K562	blood:	n/a	n/a
36	MAX	chr12:63328595-63329321	HepG2	liver:	n/a	chr12:63328681-63328691 chr12:63328924-63328933
37	FOXA1	chr12:63328696-63329495	HepG2	liver:	n/a	n/a
38	POLR2A	chr12:63328094-63329141	A549	lung:	n/a	n/a
39	RAD21	chr12:63328702-63329189	K562	blood:	n/a	chr12:63328829-63328839 chr12:63328803-63328817
40	CTBP2	chr12:63328080-63329265	H1-hESC	embryonic stem cell:	n/a	n/a
41	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
42	JUND	chr12:63328709-63329222	K562	blood:	n/a	n/a
43	EP300	chr12:63328635-63329169	HepG2	liver:	n/a	chr12:63328836-63328852
44	POLR2A	chr12:63328497-63329065	HCT-116	colon:	n/a	n/a
45	CTCF	chr12:63328756-63329228	H1-hESC	embryonic stem cell:	n/a	n/a
46	USF2	chr12:63328741-63329315	H1-hESC	embryonic stem cell:	n/a	chr12:63328948-63328964 chr12:63329112-63329123 chr12:63328794-63328810 chr12:63328885-63328901
47	USF1	chr12:63328620-63329311	H1-hESC	embryonic stem cell:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328667-63328683 chr12:63328885-63328901
48	MAX	chr12:63328608-63329472	ECC-1	luminal epithelium:	n/a	chr12:63328681-63328691 chr12:63328924-63328933
49	MAZ	chr12:63327643-63329318	K562	blood:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
50	E2F6	chr12:63328727-63329439	H1-hESC	embryonic stem cell:	n/a	chr12:63328820-63328835 chr12:63328824-63328836 chr12:63328892-63328902 chr12:63328827-63328836

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:63328717-63328767	SK-N-MC	brain:	n/a
2	chr12:63328717-63328767	HCM	heart:	n/a
3	chr12:63328717-63328767	HAEpiC	amniotic membrane:	n/a
4	chr12:63328717-63328767	SK-N-SH	brain:	n/a
5	chr12:63328717-63328767	ovcar-3	ovarian:	n/a
6	chr12:63328717-63328767	T-47D	breast:	n/a
7	chr12:63328717-63328767	HRPEpiC	eye:	n/a
8	chr12:63328717-63328767	HEK293	kidney:	embryo
9	chr12:63328717-63328767	HNPCEpiC	eye:	n/a
10	chr12:63328717-63328767	ProgFib	skin:	n/a
11	chr12:63328717-63328767	RPTEC	kidney:	n/a
12	chr12:63328717-63328767	HEEpiC	esophagus:	n/a
13	chr12:63328717-63328767	BJ	skin:	n/a
14	chr12:63328717-63328767	BE2_C	brain:	n/a
15	chr12:63328717-63328767	HRCEpiC	kidney:	n/a
16	chr12:63328717-63328767	GM12891	blood:	n/a
17	chr12:63328717-63328767	PFSK-1	brain:	n/a
18	chr12:63328717-63328767	GM06990	blood:	n/a
19	chr12:63328717-63328767	SKMC	muscle:	n/a
20	chr12:63328717-63328767	HepG2	liver:	n/a
21	chr12:63328717-63328767	Hela-S3	cervix:	n/a
22	chr12:63328717-63328767	HMEC	breast:	n/a
23	chr12:63328717-63328767	HCF	heart:	n/a
24	chr12:63328717-63328767	K562	blood:	n/a
25	chr12:63328717-63328767	A549	lung:	n/a
26	chr12:63328717-63328767	HUVEC	blood vessel:	n/a
27	chr12:63328717-63328767	GM12892	blood:	n/a
28	chr12:63328717-63328767	LNCaP	prostate:	n/a
29	chr12:63328717-63328767	NH-A	brain:	n/a
30	chr12:63328717-63328767	AoSMC	blood vessel:	n/a
31	chr12:63328717-63328767	ECC-1	luminal epithelium:	n/a
32	chr12:63328717-63328767	SAEC	small airway:	n/a
33	chr12:63328717-63328767	MCF-7	breast:	n/a
34	chr12:63328717-63328767	MCF10A-Er-Src	breast:	n/a
35	chr12:63328717-63328767	HIPEpiC	eye:	n/a
36	chr12:63328717-63328767	HRE	kidney:	n/a
37	chr12:63328717-63328767	HPAEpiC	pulmonary alveolar:	n/a
38	chr12:63328717-63328767	NHBE	bronchial:	n/a
39	chr12:63328717-63328767	AG04449	skin:	fetal
40	chr12:63328717-63328767	SK-N-SH_RA	brain:	n/a
41	chr12:63328717-63328767	NB4	blood:	n/a
42	chr12:63328717-63328767	HL-60	blood:	n/a
43	chr12:63328717-63328767	NHDF-neo	bronchial:	n/a
44	chr12:63328717-63328767	AG04450	lung:	fetal
45	chr12:63328717-63328767	U87	brain:	n/a
46	chr12:63328717-63328767	AG09319	gingival:	n/a
47	chr12:63328717-63328767	PANC-1	pancreas:	n/a
48	chr12:63328717-63328767	CMK	blood:	n/a
49	chr12:63328717-63328767	NT2-D1	testis:	n/a
50	chr12:63328717-63328767	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
ENSG00000199179	Chromatin interaction
ENSG00000139239	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000257354	Chromatin interaction
ENSG00000257664	Chromatin interaction
ENSG00000171940	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:122 , 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	chr12:63326800-63329000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:63326800-63329400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr12:63326800-63329400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr12:63326800-63329400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:63326800-63329400	Active TSS	Psoas Muscle	Psoas
10	chr12:63326800-63329400	Active TSS	Right Ventricle	heart
11	chr12:63326800-63329400	Active TSS	Stomach Mucosa	stomach
12	chr12:63326800-63329600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr12:63327000-63329000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:63327000-63329000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:63327000-63329200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr12:63327000-63329200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:63327000-63329200	Active TSS	Aorta	Aorta
18	chr12:63327000-63329200	Active TSS	Brain Anterior Caudate	brain
19	chr12:63327000-63329200	Active TSS	Osteobl	bone
20	chr12:63327000-63329400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:63327000-63329400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:63327000-63329400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:63327000-63329400	Active TSS	Gastric	stomach
24	chr12:63327000-63329400	Active TSS	Left Ventricle	heart
25	chr12:63327000-63329600	Active TSS	Brain Hippocampus Middle	brain
26	chr12:63327000-63329600	Active TSS	Fetal Kidney	kidney
27	chr12:63327200-63328800	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr12:63327200-63329200	Active TSS	Colon Smooth Muscle	Colon
29	chr12:63327200-63329200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr12:63327200-63329400	Active TSS	Brain Cingulate Gyrus	brain
31	chr12:63327200-63329400	Active TSS	Brain Substantia Nigra	brain
32	chr12:63327200-63329400	Active TSS	Ovary	ovary
33	chr12:63327200-63329400	Active TSS	Pancreas	Pancrea
34	chr12:63327400-63329000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:63327400-63329000	Active TSS	HSMM	muscle
36	chr12:63327400-63329200	Active TSS	Lung	lung
37	chr12:63327400-63329200	Active TSS	A549	lung
38	chr12:63327400-63329200	Active TSS	K562	blood
39	chr12:63327400-63329400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:63327400-63329400	Active TSS	Fetal Heart	heart
41	chr12:63327400-63329400	Active TSS	HSMMtube	muscle
42	chr12:63327600-63329200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:63327600-63329400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:63327800-63329000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:63327800-63329000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:63327800-63329000	Active TSS	Small Intestine	intestine
47	chr12:63327800-63329000	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr12:63327800-63329000	Active TSS	NH-A	brain
49	chr12:63327800-63329200	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr12:63327800-63329200	Active TSS	Hela-S3	cervix

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