Variant report

Variant	rs2114876
Chromosome Location	chr12:51663215-51663216
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	CTCF	chr12:51662895-51665050	SK-N-SH	brain:	n/a	chr12:51663487-51663505 chr12:51664248-51664269 chr12:51664255-51664268 chr12:51663212-51663233 chr12:51663489-51663510 chr12:51663641-51663654 chr12:51663490-51663499 chr12:51664253-51664271
2	MAX	chr12:51663212-51664801	HepG2	liver:	n/a	n/a
3	TEAD4	chr12:51663157-51663682	K562	blood:	n/a	n/a
4	SMC3	chr12:51662943-51663709	K562	blood:	n/a	chr12:51663489-51663503 chr12:51663669-51663679
5	RAD21	chr12:51663190-51663788	ECC-1	luminal epithelium:	n/a	chr12:51663488-51663507 chr12:51663489-51663498
6	MAX	chr12:51663069-51664971	ECC-1	luminal epithelium:	n/a	n/a
7	E2F6	chr12:51663205-51664411	K562	blood:	n/a	chr12:51664070-51664080 chr12:51664105-51664114 chr12:51663901-51663911
8	ATF2	chr12:51663156-51663670	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr12:51663170-51663807	A549	lung:	n/a	chr12:51663488-51663507 chr12:51663489-51663498
10	SP1	chr12:51663115-51665261	HCT-116	colon:	n/a	chr12:51664015-51664026 chr12:51664015-51664027 chr12:51664205-51664217 chr12:51664105-51664114 chr12:51664206-51664215 chr12:51664015-51664027 chr12:51664202-51664216 chr12:51664206-51664216 chr12:51664205-51664217
11	ZNF143	chr12:51663155-51664091	H1-hESC	embryonic stem cell:	n/a	chr12:51664070-51664080 chr12:51664010-51664020
12	MAX	chr12:51663106-51665113	ECC-1	luminal epithelium:	n/a	n/a
13	CTCF	chr12:51663180-51663330	GM12872	blood:	n/a	chr12:51663212-51663233
14	POLR2A	chr12:51663211-51663780	K562	blood:	n/a	n/a
15	NR2F2	chr12:51663180-51663732	K562	blood:	n/a	n/a
16	MAX	chr12:51662585-51665505	HCT-116	colon:	n/a	n/a
17	EGR1	chr12:51663192-51664541	ECC-1	luminal epithelium:	n/a	chr12:51664012-51664025 chr12:51663641-51663651 chr12:51664103-51664112 chr12:51663640-51663650 chr12:51663640-51663653 chr12:51663864-51663877 chr12:51663550-51663560 chr12:51663545-51663558
18	EGR1	chr12:51663164-51665263	HCT-116	colon:	n/a	chr12:51664012-51664025 chr12:51663641-51663651 chr12:51664103-51664112 chr12:51663640-51663650 chr12:51663640-51663653 chr12:51663864-51663877 chr12:51663550-51663560 chr12:51663545-51663558
19	SMC3	chr12:51663002-51663796	SK-N-SH	brain:	n/a	chr12:51663489-51663503 chr12:51663669-51663679
20	SMARCB1	chr12:51663171-51664948	Hela-S3	cervix:	n/a	n/a
21	RAD21	chr12:51663122-51664420	HCT-116	colon:	n/a	chr12:51663488-51663507 chr12:51664251-51664270 chr12:51663489-51663498 chr12:51663866-51663876
22	SMC3	chr12:51663186-51665173	Hela-S3	cervix:	n/a	chr12:51663489-51663503 chr12:51664255-51664269 chr12:51663866-51663876 chr12:51664132-51664146 chr12:51663669-51663679
23	RCOR1	chr12:51663135-51663641	Hela-S3	cervix:	n/a	n/a
24	JUN	chr12:51662694-51663819	K562	blood:	n/a	n/a
25	POLR2A	chr12:51663192-51664732	K562	blood:	n/a	n/a
26	MAX	chr12:51663213-51663662	K562	blood:	n/a	n/a
27	NR2F2	chr12:51663203-51663654	K562	blood:	n/a	n/a
28	MAX	chr12:51663203-51664838	HepG2	liver:	n/a	n/a
29	SIN3AK20	chr12:51663116-51664958	MCF-7	breast:	n/a	n/a
30	MAX	chr12:51663090-51665154	A549	lung:	n/a	n/a
31	USF2	chr12:51663194-51663522	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr12:51663215-51665075	K562	blood:	n/a	n/a
33	CTCF	chr12:51663120-51663270	NHEK	skin:	n/a	chr12:51663212-51663233
34	CTCF	chr12:51663100-51663250	GM12870	blood:	n/a	chr12:51663212-51663233
35	RAD21	chr12:51663142-51663764	H1-hESC	embryonic stem cell:	n/a	chr12:51663488-51663507 chr12:51663489-51663498
36	ZNF143	chr12:51663193-51663651	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr12:51663198-51665143	HCT-116	colon:	n/a	n/a
38	RAD21	chr12:51663148-51663734	MCF-7	breast:	n/a	chr12:51663488-51663507 chr12:51663489-51663498
39	MAX	chr12:51663068-51664923	K562	blood:	n/a	n/a
40	RAD21	chr12:51663210-51663719	A549	lung:	n/a	chr12:51663488-51663507 chr12:51663489-51663498
41	RCOR1	chr12:51663172-51665216	K562	blood:	n/a	n/a
42	MAX	chr12:51662707-51665296	HCT-116	colon:	n/a	n/a
43	CTCF	chr12:51663101-51663757	MCF-7	breast:	n/a	chr12:51663487-51663505 chr12:51663212-51663233 chr12:51663489-51663510 chr12:51663641-51663654 chr12:51663490-51663499
44	TCF12	chr12:51663143-51665050	A549	lung:	n/a	chr12:51663493-51663500 chr12:51664606-51664613 chr12:51663955-51663962
45	RAD21	chr12:51663202-51663702	HepG2	liver:	n/a	chr12:51663488-51663507 chr12:51663489-51663498
46	E2F6	chr12:51663115-51664352	H1-hESC	embryonic stem cell:	n/a	chr12:51664070-51664080 chr12:51664105-51664114 chr12:51663901-51663911
47	CTCF	chr12:51662619-51663743	A549	lung:	n/a	chr12:51663487-51663505 chr12:51663212-51663233 chr12:51663489-51663510 chr12:51663641-51663654 chr12:51663490-51663499
48	JUND	chr12:51663215-51663701	K562	blood:	n/a	n/a
49	MAX	chr12:51663195-51664278	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZBTB7A	chr12:51663210-51664833	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:51565300..51568760-chr12:51661642..51664290,3	K562	blood:
2	chr12:51661913..51666807-chr12:51714627..51721165,8	MCF-7	breast:
3	chr12:51474899..51477450-chr12:51661996..51663687,2	K562	blood:
4	chr12:51440322..51443098-chr12:51662230..51665433,4	K562	blood:
5	chr12:51662477..51664063-chr12:51717292..51718857,2	MCF-7	breast:
6	chr12:51630916..51632969-chr12:51661911..51664202,4	MCF-7	breast:
7	chr12:51631526..51635212-chr12:51662486..51664929,4	MCF-7	breast:
8	chr12:51397939..51400659-chr12:51662476..51664122,2	MCF-7	breast:
9	chr12:51661897..51665217-chr12:51739188..51742261,4	MCF-7	breast:
10	chr12:51663201..51663777-chr6:26158272..26158847,2	HCT-116	colon:

Variant related genes	Relation type
SMAGP	TF binding region
ENSG00000110911	Chromatin interaction
ENSG00000110934	Chromatin interaction
ENSG00000139610	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000158373	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1991433	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288367	0.88[EUR][1000 genomes]
rs2359450	0.81[EUR][1000 genomes]
rs3858637	0.82[EUR][1000 genomes]
rs3969069	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4477479	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611251	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4761982	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4761985	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4761994	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6580821	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133314	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135736	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306875	0.81[ASN][1000 genomes]
rs7308177	0.81[EUR][1000 genomes]
rs7316221	0.81[EUR][1000 genomes]
rs7316604	0.81[EUR][1000 genomes]
rs74093810	0.81[EUR][1000 genomes]
rs74093814	0.81[EUR][1000 genomes]
rs7954976	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957868	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7975715	0.81[EUR][1000 genomes]
rs9795976	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3405622	chr12:51662910-51665458	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51653400-51663400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:51661000-51665000	Active TSS	Colonic Mucosa	Colon
3	chr12:51661400-51664800	Active TSS	Esophagus	oesophagus
4	chr12:51661600-51664600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:51661800-51664400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr12:51662600-51663400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:51662600-51663400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:51662600-51663400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr12:51662600-51663400	Flanking Active TSS	NHEK	skin
10	chr12:51662600-51663600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:51662600-51663600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:51662600-51663600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:51662600-51663600	Flanking Active TSS	K562	blood
14	chr12:51662600-51663600	Flanking Active TSS	NH-A	brain
15	chr12:51662600-51664600	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr12:51662800-51663400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:51662800-51663400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:51662800-51663400	Enhancers	Brain Hippocampus Middle	brain
19	chr12:51662800-51663400	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr12:51662800-51663400	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr12:51662800-51663400	Flanking Active TSS	Hela-S3	cervix
22	chr12:51662800-51663600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:51662800-51663600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:51662800-51663600	Flanking Active TSS	Placenta	Placenta
25	chr12:51662800-51663600	Active TSS	Stomach Mucosa	stomach
26	chr12:51662800-51663600	Flanking Active TSS	HUVEC	blood vessel
27	chr12:51662800-51663800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:51662800-51663800	Flanking Active TSS	Dnd41	blood
29	chr12:51662800-51664600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:51662800-51664600	Active TSS	Gastric	stomach
31	chr12:51662800-51664800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr12:51662800-51664800	Bivalent/Poised TSS	Fetal Stomach	stomach
33	chr12:51662800-51664800	Active TSS	Ovary	ovary
34	chr12:51662800-51665000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr12:51662800-51665000	Active TSS	Left Ventricle	heart
36	chr12:51662800-51665000	Active TSS	Right Atrium	heart
37	chr12:51662800-51665000	Active TSS	Right Ventricle	heart
38	chr12:51662800-51665000	Active TSS	Small Intestine	intestine
39	chr12:51662800-51665400	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr12:51663000-51663400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:51663000-51663400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr12:51663000-51663400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:51663000-51663400	Flanking Active TSS	Liver	Liver
44	chr12:51663000-51663400	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr12:51663000-51663400	Active TSS	Fetal Kidney	kidney
46	chr12:51663000-51663400	Flanking Active TSS	A549	lung
47	chr12:51663000-51663400	Flanking Active TSS	HepG2	liver
48	chr12:51663000-51663400	Flanking Active TSS	NHDF-Ad	bronchial
49	chr12:51663000-51663600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr12:51663000-51663600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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