Variant report

Variant	rs147619682
Chromosome Location	chr12:63329223-63329224
allele	C/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	ARID3A	chr12:63328780-63329249	HepG2	liver:	n/a	n/a
3	TBP	chr12:63328858-63329274	Hela-S3	cervix:	n/a	n/a
4	MAX	chr12:63328163-63329320	Hela-S3	cervix:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63328924-63328933
5	POLR2A	chr12:63328604-63329224	H1-neurons	neurons:	n/a	n/a
6	NR2F2	chr12:63328609-63329336	K562	blood:	n/a	n/a
7	SP1	chr12:63328860-63329348	H1-hESC	embryonic stem cell:	n/a	chr12:63329029-63329038 chr12:63328977-63328989 chr12:63328978-63328987 chr12:63328977-63328989 chr12:63328979-63328988 chr12:63329028-63329039
8	CTCF	chr12:63328840-63329226	MCF-7	breast:	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	USF1	chr12:63328664-63329353	K562	blood:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328667-63328683 chr12:63328885-63328901
14	RAD21	chr12:63328697-63329253	HepG2	liver:	n/a	chr12:63328829-63328839 chr12:63328803-63328817
15	USF1	chr12:63328687-63329392	A549	lung:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328885-63328901
16	ZEB1	chr12:63326895-63329453	HepG2	liver:	n/a	chr12:63329095-63329107 chr12:63329096-63329107
17	USF1	chr12:63328787-63329280	HepG2	liver:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328885-63328901
18	TBP	chr12:63328733-63329295	H1-hESC	embryonic stem cell:	n/a	n/a
19	SMC3	chr12:63328816-63329254	HepG2	liver:	n/a	chr12:63328829-63328839
20	MAX	chr12:63327017-63329477	A549	lung:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
21	POLR2A	chr12:63327949-63329244	MCF-7	breast:	n/a	n/a
22	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
23	USF1	chr12:63328723-63329392	K562	blood:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328885-63328901
24	JUND	chr12:63328819-63329293	H1-hESC	embryonic stem cell:	n/a	n/a
25	CBX3	chr12:63328676-63329433	HCT-116	colon:	n/a	n/a
26	BRCA1	chr12:63328926-63329271	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr12:63329180-63329330	HFF	foreskin:	n/a	n/a
28	SIN3AK20	chr12:63328235-63329238	PANC-1	pancreas:	n/a	n/a
29	RCOR1	chr12:63328739-63329268	HepG2	liver:	n/a	n/a
30	MAX	chr12:63328595-63329321	HepG2	liver:	n/a	chr12:63328681-63328691 chr12:63328924-63328933
31	FOXA1	chr12:63328696-63329495	HepG2	liver:	n/a	n/a
32	CTCF	chr12:63328796-63329270	K562	blood:	n/a	n/a
33	TCF12	chr12:63328816-63329234	HepG2	liver:	n/a	n/a
34	CTBP2	chr12:63328080-63329265	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZNF143	chr12:63328818-63329270	K562	blood:	n/a	n/a
36	CTCF	chr12:63328756-63329228	H1-hESC	embryonic stem cell:	n/a	n/a
37	USF2	chr12:63328741-63329315	H1-hESC	embryonic stem cell:	n/a	chr12:63328948-63328964 chr12:63329112-63329123 chr12:63328794-63328810 chr12:63328885-63328901
38	USF1	chr12:63328620-63329311	H1-hESC	embryonic stem cell:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328667-63328683 chr12:63328885-63328901
39	CTCF	chr12:63328812-63329295	A549	lung:	n/a	n/a
40	USF1	chr12:63328773-63329333	A549	lung:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328885-63328901
41	MAX	chr12:63328608-63329472	ECC-1	luminal epithelium:	n/a	chr12:63328681-63328691 chr12:63328924-63328933
42	CTCF	chr12:63328817-63329285	T-47D	breast:	n/a	n/a
43	MAZ	chr12:63327643-63329318	K562	blood:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
44	E2F6	chr12:63328727-63329439	H1-hESC	embryonic stem cell:	n/a	chr12:63328820-63328835 chr12:63328824-63328836 chr12:63328892-63328902 chr12:63328827-63328836
45	ZNF143	chr12:63328097-63329292	H1-hESC	embryonic stem cell:	n/a	chr12:63328523-63328533 chr12:63328558-63328568 chr12:63328576-63328594
46	TEAD4	chr12:63328810-63329353	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAZ	chr12:63328625-63329324	Hela-S3	cervix:	n/a	chr12:63328681-63328691 chr12:63328924-63328933
48	USF1	chr12:63328749-63329270	HepG2	liver:	n/a	chr12:63328948-63328964 chr12:63328794-63328810 chr12:63328885-63328901
49	TCF12	chr12:63328745-63329254	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr12:63328870-63329223	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:63325863..63329962-chr12:63356030..63360907,6	MCF-7	breast:
2	chr12:63327630..63329589-chr12:63447421..63451204,3	MCF-7	breast:
3	chr12:62996812..62998536-chr12:63327281..63329321,2	MCF-7	breast:

Variant related genes	Relation type
PPM1H	TF binding region
ENSG00000252660	TF binding region
ENSG00000221949	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000257664	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63326400-63329400	Active TSS	Brain Angular Gyrus	brain
2	chr12:63326600-63330000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr12:63326800-63329400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr12:63326800-63329400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr12:63326800-63329400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:63326800-63329400	Active TSS	Psoas Muscle	Psoas
7	chr12:63326800-63329400	Active TSS	Right Ventricle	heart
8	chr12:63326800-63329400	Active TSS	Stomach Mucosa	stomach
9	chr12:63326800-63329600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr12:63327000-63329400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:63327000-63329400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:63327000-63329400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:63327000-63329400	Active TSS	Gastric	stomach
14	chr12:63327000-63329400	Active TSS	Left Ventricle	heart
15	chr12:63327000-63329600	Active TSS	Brain Hippocampus Middle	brain
16	chr12:63327000-63329600	Active TSS	Fetal Kidney	kidney
17	chr12:63327200-63329400	Active TSS	Brain Cingulate Gyrus	brain
18	chr12:63327200-63329400	Active TSS	Brain Substantia Nigra	brain
19	chr12:63327200-63329400	Active TSS	Ovary	ovary
20	chr12:63327200-63329400	Active TSS	Pancreas	Pancrea
21	chr12:63327400-63329400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:63327400-63329400	Active TSS	Fetal Heart	heart
23	chr12:63327400-63329400	Active TSS	HSMMtube	muscle
24	chr12:63327600-63329400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:63327800-63329400	Active TSS	Fetal Intestine Small	intestine
26	chr12:63327800-63329400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr12:63327800-63329600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:63328000-63329400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr12:63328000-63329400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:63328000-63329400	Active TSS	Duodenum Mucosa	Duodenum
31	chr12:63328000-63329400	Active TSS	Rectal Smooth Muscle	rectum
32	chr12:63328000-63329600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:63328000-63329600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr12:63328200-63329400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:63328200-63329400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:63328200-63329400	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr12:63328400-63329400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:63328400-63329400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:63328400-63329400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
40	chr12:63328400-63329400	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr12:63328400-63329400	Bivalent/Poised TSS	Thymus	Thymus
42	chr12:63328600-63329400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:63328800-63329400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr12:63328800-63329400	Flanking Bivalent TSS/Enh	Dnd41	blood
45	chr12:63329000-63329400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:63329000-63329400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr12:63329000-63329400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr12:63329000-63329400	Active TSS	Primary T cells from cord blood	blood
49	chr12:63329000-63329400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr12:63329000-63329400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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