Variant report

Variant	rs572438443
Chromosome Location	chr12:121078361-121078362
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	MAX	chr12:121078064-121078438	K562	blood:	n/a	n/a
2	CTCF	chr12:121078148-121078612	K562	blood:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
3	UBTF	chr12:121078204-121079517	K562	blood:	n/a	n/a
4	CTCF	chr12:121077432-121078631	A549	lung:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
5	CTCF	chr12:121078047-121078476	H1-hESC	embryonic stem cell:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
6	CTCF	chr12:121078160-121078430	HepG2	liver:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
7	E2F6	chr12:121077952-121078382	H1-hESC	embryonic stem cell:	n/a	n/a
8	GABPA	chr12:121078083-121078584	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr12:121078071-121078487	MCF-7	breast:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
10	CTCF	chr12:121078220-121078370	GM12873	blood:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
11	CTCF	chr12:121078166-121078467	GM12891	blood:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
12	MYC	chr12:121078223-121078402	K562	blood:	n/a	n/a
13	ZBTB7A	chr12:121078100-121078529	K562	blood:	n/a	chr12:121078420-121078429
14	CTCF	chr12:121078012-121078458	K562	blood:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
15	MAX	chr12:121078047-121078513	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr12:121078144-121078415	GM13977	blood:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
17	MAX	chr12:121077904-121078610	K562	blood:	n/a	n/a
18	RAD21	chr12:121078165-121078461	K562	blood:	n/a	chr12:121078305-121078318
19	CTCF	chr12:121078260-121078410	HCT-116	colon:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
20	PAX5	chr12:121078116-121078591	GM12892	blood:	n/a	n/a
21	CTCF	chr12:121078113-121078526	GM12878	blood:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
22	CTCF	chr12:121078178-121078423	Spleen_OC	spleen:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
23	CTCF	chr12:121078199-121078384	MCF-7	breast:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
24	MAX	chr12:121078037-121078527	HepG2	liver:	n/a	n/a
25	MAX	chr12:121078132-121078437	A549	lung:	n/a	n/a
26	YY1	chr12:121078175-121078413	K562	blood:	n/a	n/a
27	CTCF	chr12:121078220-121078370	MCF-7	breast:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
28	ZNF143	chr12:121078144-121078468	GM12878	blood:	n/a	chr12:121078378-121078396 chr12:121078418-121078428
29	MAZ	chr12:121078171-121078434	GM12878	blood:	n/a	n/a
30	CTCF	chr12:121078240-121078390	RPTEC	kidney:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
31	MAX	chr12:121077928-121078598	A549	lung:	n/a	n/a
32	RAD21	chr12:121078106-121078474	H1-hESC	embryonic stem cell:	n/a	chr12:121078305-121078318
33	MAX	chr12:121077928-121078555	A549	lung:	n/a	n/a
34	CTCF	chr12:121078149-121078510	K562	blood:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
35	MAX	chr12:121078061-121078524	ECC-1	luminal epithelium:	n/a	n/a
36	ELF1	chr12:121078079-121078492	HepG2	liver:	n/a	chr12:121078317-121078326 chr12:121078208-121078217 chr12:121078455-121078467 chr12:121078414-121078423
37	MAX	chr12:121078052-121078538	HepG2	liver:	n/a	n/a
38	JUND	chr12:121078217-121078383	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr12:121078320-121078470	NHLF	lung:	n/a	n/a
40	MAX	chr12:121077895-121078614	HCT-116	colon:	n/a	n/a
41	CTCF	chr12:121078220-121078370	GM12871	blood:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
42	POLR2A	chr12:121078073-121078451	Raji	blood:	n/a	n/a
43	ZBTB7A	chr12:121078004-121078536	ECC-1	luminal epithelium:	n/a	chr12:121078420-121078429
44	ZBTB7A	chr12:121078176-121078393	HepG2	liver:	n/a	n/a
45	ELF1	chr12:121078068-121078563	K562	blood:	n/a	chr12:121078317-121078326 chr12:121078208-121078217 chr12:121078455-121078467 chr12:121078414-121078423
46	E2F6	chr12:121078138-121078675	K562	blood:	n/a	chr12:121078441-121078451
47	CTCF	chr12:121078187-121078406	K562	blood:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
48	MYC	chr12:121077962-121078504	A549	lung:	n/a	n/a
49	SIN3AK20	chr12:121077908-121078466	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZBTB7A	chr12:121078134-121078497	K562	blood:	n/a	chr12:121078420-121078429

No.	Distal block	Cell Line	Cell type
1	chr12:121077855..121079516-chr12:121124357..121126482,2	MCF-7	breast:
2	chr12:121074234..121078810-chr12:121086912..121091656,5	K562	blood:
3	chr12:121077883..121078713-chr12:121409304..121410103,2	MCF-7	breast:
4	chr12:121019025..121020943-chr12:121076838..121078875,3	K562	blood:

Variant related genes	Relation type
ENSG00000256008	TF binding region
ENSG00000272214	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000157782	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv3346909	chr12:121077394-121079942	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3334570	chr12:121077719-121079967	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:121077600-121078400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
2	chr12:121077600-121079600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr12:121077600-121079600	Active TSS	Brain Angular Gyrus	brain
4	chr12:121077800-121078400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:121077800-121078400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:121077800-121078400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
7	chr12:121077800-121078400	Bivalent Enhancer	Placenta	Placenta
8	chr12:121077800-121078400	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr12:121077800-121078400	Flanking Bivalent TSS/Enh	Dnd41	blood
10	chr12:121077800-121078600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:121077800-121078600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
12	chr12:121077800-121079000	Bivalent/Poised TSS	Colonic Mucosa	Colon
13	chr12:121077800-121079200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:121077800-121079200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr12:121077800-121079400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:121077800-121079400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
17	chr12:121077800-121079600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr12:121077800-121079600	Flanking Bivalent TSS/Enh	Thymus	Thymus
19	chr12:121078000-121078400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:121078000-121078400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
21	chr12:121078000-121078400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr12:121078000-121078400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
23	chr12:121078000-121078400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
24	chr12:121078000-121078400	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:121078000-121078400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
26	chr12:121078000-121078400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
27	chr12:121078000-121078400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:121078000-121078400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:121078000-121078400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
30	chr12:121078000-121078400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:121078000-121078400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:121078000-121078400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:121078000-121078400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
34	chr12:121078000-121078400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
35	chr12:121078000-121078400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr12:121078000-121078400	Flanking Active TSS	Fetal Brain Female	brain
37	chr12:121078000-121078400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr12:121078000-121078400	Flanking Active TSS	Right Ventricle	heart
39	chr12:121078000-121078800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
40	chr12:121078000-121079000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:121078000-121079000	Active TSS	Psoas Muscle	Psoas
42	chr12:121078000-121079000	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr12:121078000-121079200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:121078000-121079200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:121078000-121079200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:121078000-121079200	Active TSS	Pancreas	Pancrea
47	chr12:121078000-121079400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:121078000-121079400	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr12:121078000-121079400	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr12:121078000-121079400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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