Variant report

Variant	rs577418564
Chromosome Location	chr12:63327637-63327638
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	ZEB1	chr12:63326895-63329453	HepG2	liver:	n/a	chr12:63329095-63329107 chr12:63329096-63329107
2	UBTF	chr12:63327632-63329147	K562	blood:	n/a	n/a
3	MAX	chr12:63327017-63329477	A549	lung:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
4	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
5	POLR2A	chr12:63327032-63327890	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:63327070-63328289	K562	blood:	n/a	n/a
7	EGR1	chr12:63327568-63328249	K562	blood:	n/a	chr12:63327868-63327881 chr12:63327868-63327881 chr12:63327870-63327880 chr12:63327868-63327881 chr12:63327868-63327882 chr12:63327864-63327886 chr12:63327870-63327880 chr12:63327871-63327880 chr12:63327869-63327880
8	TBP	chr12:63327408-63327638	K562	blood:	n/a	n/a
9	SIN3A	chr12:63326943-63329353	H1-hESC	embryonic stem cell:	n/a	chr12:63328666-63328677
10	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
11	E2F4	chr12:63327497-63327696	MCF10A-Er-Src	breast:	n/a	n/a
12	MYC	chr12:63327623-63329348	K562	blood:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
13	MAX	chr12:63326953-63329378	MCF-7	breast:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
14	POLR2A	chr12:63327131-63327894	HepG2	liver:	n/a	n/a
15	RCOR1	chr12:63326883-63329350	K562	blood:	n/a	n/a
16	KAP1	chr12:63326884-63328347	HEK293	kidney:	n/a	n/a
17	POLR2A	chr12:63327604-63329140	K562	blood:	n/a	n/a
18	MYC	chr12:63327589-63329314	K562	blood:	n/a	chr12:63328681-63328691 chr12:63328552-63328562 chr12:63327895-63327905 chr12:63328924-63328933
19	UBTF	chr12:63327533-63329210	K562	blood:	n/a	n/a
20	STAT3	chr12:63327491-63327710	MCF10A-Er-Src	breast:	n/a	n/a
21	HDAC2	chr12:63326945-63329435	MCF-7	breast:	n/a	chr12:63329372-63329386
22	CTBP2	chr12:63327020-63327863	H1-hESC	embryonic stem cell:	n/a	n/a
23	HEY1	chr12:63327629-63327987	HepG2	liver:	n/a	n/a
24	RCOR1	chr12:63327119-63328320	K562	blood:	n/a	n/a
25	SIN3AK20	chr12:63326856-63329407	MCF-7	breast:	n/a	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	chr12:63244647..63247922-chr12:63326690..63328475,3	MCF-7	breast:
6	chr12:63326223..63329085-chr20:52208224..52210688,2	MCF-7	breast:
7	chr12:63278268..63280209-chr12:63326131..63327723,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252660	TF binding region
ENSG00000139239	Chromatin interaction
ENSG00000257354	Chromatin interaction
ENSG00000257664	Chromatin interaction
ENSG00000200296	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000199179	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:125 , 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	chr12:63326600-63328200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:63326600-63329200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:63326600-63330000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr12:63326800-63327800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
7	chr12:63326800-63327800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:63326800-63327800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr12:63326800-63327800	Bivalent/Poised TSS	Thymus	Thymus
10	chr12:63326800-63327800	Flanking Bivalent TSS/Enh	NH-A	brain
11	chr12:63326800-63328000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:63326800-63328200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:63326800-63328200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr12:63326800-63328200	Flanking Active TSS	Liver	Liver
15	chr12:63326800-63328200	Active TSS	Right Atrium	heart
16	chr12:63326800-63328400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr12:63326800-63328600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr12:63326800-63329000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:63326800-63329400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr12:63326800-63329400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr12:63326800-63329400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:63326800-63329400	Active TSS	Psoas Muscle	Psoas
23	chr12:63326800-63329400	Active TSS	Right Ventricle	heart
24	chr12:63326800-63329400	Active TSS	Stomach Mucosa	stomach
25	chr12:63326800-63329600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr12:63327000-63327800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:63327000-63327800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:63327000-63327800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr12:63327000-63327800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:63327000-63327800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
31	chr12:63327000-63327800	Flanking Active TSS	Hela-S3	cervix
32	chr12:63327000-63328000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:63327000-63328000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:63327000-63328000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr12:63327000-63328200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr12:63327000-63328200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
37	chr12:63327000-63328200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr12:63327000-63328200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr12:63327000-63328200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr12:63327000-63328200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr12:63327000-63328400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr12:63327000-63328400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
43	chr12:63327000-63328600	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr12:63327000-63329000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:63327000-63329000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr12:63327000-63329200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr12:63327000-63329200	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr12:63327000-63329200	Active TSS	Aorta	Aorta
49	chr12:63327000-63329200	Active TSS	Brain Anterior Caudate	brain
50	chr12:63327000-63329200	Active TSS	Osteobl	bone

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