Variant report

Variant	rs2628035
Chromosome Location	chr12:63328324-63328325
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	CTCF	chr12:63328119-63328351	MCF-7	breast:	n/a	n/a
2	RCOR1	chr12:63328099-63328436	HepG2	liver:	n/a	n/a
3	MAX	chr12:63328163-63329320	Hela-S3	cervix:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63328924-63328933
4	CREB1	chr12:63328185-63329187	A549	lung:	n/a	n/a
5	RAD21	chr12:63327950-63328468	MCF-7	breast:	n/a	n/a
6	POLR2A	chr12:63328128-63329107	NB4	blood:	n/a	n/a
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	MAX	chr12:63327017-63329477	A549	lung:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
11	POLR2A	chr12:63327949-63329244	MCF-7	breast:	n/a	n/a
12	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
13	SIN3AK20	chr12:63328235-63329238	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr12:63328094-63329141	A549	lung:	n/a	n/a
15	POLR2A	chr12:63328201-63328386	A549	lung:	n/a	n/a
16	CTCF	chr12:63328240-63328390	GM12864	blood:	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	RAD21	chr12:63328123-63328475	H1-hESC	embryonic stem cell:	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	CBX3	chr12:63328037-63328421	K562	blood:	n/a	n/a
25	CTCF	chr12:63328220-63328370	GM12878	blood:	n/a	n/a
26	TAF1	chr12:63327999-63329357	ECC-1	luminal epithelium:	n/a	n/a
27	CTCF	chr12:63328180-63328330	Hela-S3	cervix:	n/a	n/a
28	MYC	chr12:63328134-63328437	MCF-7	breast:	n/a	n/a
29	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
30	MAX	chr12:63327821-63328602	ECC-1	luminal epithelium:	n/a	chr12:63328552-63328562 chr12:63327895-63327905
31	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
32	BACH1	chr12:63328322-63329341	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr12:63327672-63329329	K562	blood:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
34	CTCF	chr12:63328180-63328330	GM12875	blood:	n/a	n/a
35	POLR2A	chr12:63328210-63329287	ECC-1	luminal epithelium:	n/a	n/a
36	MAX	chr12:63327924-63329494	HCT-116	colon:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63328924-63328933
37	POLR2A	chr12:63327689-63329320	MCF-7	breast:	n/a	n/a
38	MAX	chr12:63327826-63329295	K562	blood:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
39	CTCF	chr12:63327749-63329511	A549	lung:	n/a	chr12:63328666-63328679 chr12:63328545-63328558 chr12:63328548-63328561
40	SIN3A	chr12:63326943-63329353	H1-hESC	embryonic stem cell:	n/a	chr12:63328666-63328677
41	POLR2A	chr12:63328083-63328379	K562	blood:	n/a	n/a
42	TCF12	chr12:63327895-63329441	A549	lung:	n/a	n/a
43	SMARCB1	chr12:63328013-63329320	Hela-S3	cervix:	n/a	n/a
44	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
45	POLR2A	chr12:63327985-63329290	H1-neurons	neurons:	n/a	n/a
46	CTCF	chr12:63328200-63328350	GM06990	blood:	n/a	n/a
47	CTCF	chr12:63328200-63328350	HA-sp	spinal cord:	n/a	n/a
48	POLR2A	chr12:63328054-63328416	K562	blood:	n/a	n/a
49	CCNT2	chr12:63328126-63329198	K562	blood:	n/a	chr12:63328979-63328988 chr12:63329029-63329038 chr12:63328827-63328836
50	MYC	chr12:63327623-63329348	K562	blood:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933

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	chr12:63244647..63247922-chr12:63326690..63328475,3	MCF-7	breast:
6	chr12:63326223..63329085-chr20:52208224..52210688,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252660	TF binding region
PPM1H	TF binding region
ENSG00000139239	Chromatin interaction
ENSG00000257354	Chromatin interaction
ENSG00000200296	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000199179	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:124 , 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	chr12:63326800-63328400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr12:63326800-63328600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr12:63326800-63329000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:63326800-63329400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr12:63326800-63329400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr12:63326800-63329400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:63326800-63329400	Active TSS	Psoas Muscle	Psoas
12	chr12:63326800-63329400	Active TSS	Right Ventricle	heart
13	chr12:63326800-63329400	Active TSS	Stomach Mucosa	stomach
14	chr12:63326800-63329600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr12:63327000-63328400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr12:63327000-63328400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
17	chr12:63327000-63328600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr12:63327000-63329000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:63327000-63329000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr12:63327000-63329200	Active TSS	H1 Cell Line	embryonic stem cell
21	chr12:63327000-63329200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr12:63327000-63329200	Active TSS	Aorta	Aorta
23	chr12:63327000-63329200	Active TSS	Brain Anterior Caudate	brain
24	chr12:63327000-63329200	Active TSS	Osteobl	bone
25	chr12:63327000-63329400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:63327000-63329400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:63327000-63329400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:63327000-63329400	Active TSS	Gastric	stomach
29	chr12:63327000-63329400	Active TSS	Left Ventricle	heart
30	chr12:63327000-63329600	Active TSS	Brain Hippocampus Middle	brain
31	chr12:63327000-63329600	Active TSS	Fetal Kidney	kidney
32	chr12:63327200-63328400	Bivalent/Poised TSS	HepG2	liver
33	chr12:63327200-63328800	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr12:63327200-63329200	Active TSS	Colon Smooth Muscle	Colon
35	chr12:63327200-63329200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr12:63327200-63329400	Active TSS	Brain Cingulate Gyrus	brain
37	chr12:63327200-63329400	Active TSS	Brain Substantia Nigra	brain
38	chr12:63327200-63329400	Active TSS	Ovary	ovary
39	chr12:63327200-63329400	Active TSS	Pancreas	Pancrea
40	chr12:63327400-63328400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:63327400-63328400	Flanking Bivalent TSS/Enh	NHEK	skin
42	chr12:63327400-63328600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:63327400-63329000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:63327400-63329000	Active TSS	HSMM	muscle
45	chr12:63327400-63329200	Active TSS	Lung	lung
46	chr12:63327400-63329200	Active TSS	A549	lung
47	chr12:63327400-63329200	Active TSS	K562	blood
48	chr12:63327400-63329400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:63327400-63329400	Active TSS	Fetal Heart	heart
50	chr12:63327400-63329400	Active TSS	HSMMtube	muscle

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