Variant report

Variant	rs11169736
Chromosome Location	chr12:51566657-51566658
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	TAF1	chr12:51565931-51567399	ECC-1	luminal epithelium:	n/a	n/a
2	CREB1	chr12:51566356-51567354	ECC-1	luminal epithelium:	n/a	chr12:51566917-51566930
3	EGR1	chr12:51566298-51566774	K562	blood:	n/a	chr12:51566703-51566712 chr12:51566501-51566515
4	MYBL2	chr12:51566186-51567179	HepG2	liver:	n/a	n/a
5	GABPA	chr12:51565980-51567309	SK-N-SH	brain:	n/a	n/a
6	ATF1	chr12:51566467-51567198	K562	blood:	n/a	n/a
7	RFX5	chr12:51566406-51567142	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:51566019-51567333	H1-hESC	embryonic stem cell:	n/a	n/a
9	SP2	chr12:51566526-51567191	K562	blood:	n/a	chr12:51566616-51566625
10	JUN	chr12:51566629-51567241	H1-hESC	embryonic stem cell:	n/a	chr12:51566915-51566928 chr12:51566919-51566928
11	MYC	chr12:51566460-51567228	MCF10A-Er-Src	breast:	n/a	chr12:51566637-51566647
12	POLR2A	chr12:51565988-51567357	ECC-1	luminal epithelium:	n/a	n/a
13	TAF1	chr12:51566298-51567291	HepG2	liver:	n/a	n/a
14	REST	chr12:51566332-51566778	K562	blood:	n/a	n/a
15	CEBPB	chr12:51566442-51567217	Hela-S3	cervix:	n/a	n/a
16	BCLAF1	chr12:51566163-51567007	GM12878	blood:	n/a	chr12:51566703-51566712 chr12:51566862-51566871 chr12:51566681-51566690 chr12:51566614-51566623 chr12:51566250-51566259 chr12:51566423-51566436
17	GTF2B	chr12:51566399-51567246	K562	blood:	n/a	n/a
18	POLR2A	chr12:51566615-51567238	SK-N-MC	brain:	n/a	n/a
19	CCNT2	chr12:51566149-51567235	K562	blood:	n/a	chr12:51566615-51566624
20	POLR2A	chr12:51566311-51567361	HCT-116	colon:	n/a	n/a
21	POLR2A	chr12:51566254-51567389	PANC-1	pancreas:	n/a	n/a
22	ELF1	chr12:51566499-51567179	HepG2	liver:	n/a	chr12:51566862-51566874
23	REST	chr12:51566096-51567228	A549	lung:	n/a	n/a
24	GABPA	chr12:51566112-51567452	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr12:51566253-51567441	SK-N-MC	brain:	n/a	n/a
26	RAD21	chr12:51566352-51566738	SK-N-SH_RA	brain:	n/a	n/a
27	UBTF	chr12:51565787-51567286	K562	blood:	n/a	n/a
28	E2F6	chr12:51566372-51567397	A549	lung:	n/a	chr12:51566920-51566929 chr12:51566877-51566886 chr12:51566918-51566927
29	YY1	chr12:51566368-51567321	ECC-1	luminal epithelium:	n/a	chr12:51566871-51566893
30	JUN	chr12:51565435-51567459	K562	blood:	n/a	chr12:51566915-51566928 chr12:51566919-51566928
31	E2F4	chr12:51566382-51567251	K562	blood:	n/a	chr12:51566920-51566929 chr12:51566877-51566886 chr12:51566918-51566927
32	MAX	chr12:51566367-51567346	K562	blood:	n/a	chr12:51566637-51566647
33	TCF12	chr12:51566443-51566754	GM12878	blood:	n/a	n/a
34	PML	chr12:51566627-51567225	GM12878	blood:	n/a	n/a
35	MYC	chr12:51566570-51566721	HUVEC	blood vessel:	n/a	chr12:51566637-51566647
36	EP300	chr12:51566179-51567252	GM12878	blood:	n/a	chr12:51566704-51566711 chr12:51566584-51566600
37	HDAC2	chr12:51566432-51566715	K562	blood:	n/a	n/a
38	EP300	chr12:51565652-51567141	GM12878	blood:	n/a	chr12:51566704-51566711 chr12:51566584-51566600 chr12:51565856-51565865
39	YY1	chr12:51566424-51567133	H1-hESC	embryonic stem cell:	n/a	chr12:51566871-51566893
40	POLR2A	chr12:51565728-51567300	HepG2	liver:	n/a	n/a
41	YY1	chr12:51566388-51567173	H1-hESC	embryonic stem cell:	n/a	chr12:51566871-51566893
42	CEBPD	chr12:51566469-51566744	HepG2	liver:	n/a	n/a
43	JUND	chr12:51565766-51567260	K562	blood:	n/a	chr12:51566919-51566928
44	POLR2A	chr12:51566300-51567332	Gliobla	brain:	n/a	n/a
45	PML	chr12:51566118-51567356	K562	blood:	n/a	n/a
46	POLR2A	chr12:51566074-51567303	GM12892	blood:	n/a	n/a
47	GABPA	chr12:51566362-51567180	HL-60	blood:	n/a	n/a
48	TAF1	chr12:51566464-51566865	SK-N-SH	brain:	n/a	n/a
49	GABPA	chr12:51566422-51567071	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr12:51566500-51567171	A549	lung:	n/a	chr12:51566917-51566930

No.	Distal block	Cell Line	Cell type
1	chr12:51564751..51566966-chr12:51783543..51785825,2	K562	blood:
2	chr12:51474365..51478814-chr12:51563597..51568148,9	K562	blood:
3	chr12:50793053..50795901-chr12:51566225..51568182,2	K562	blood:
4	chr12:51554796..51557300-chr12:51565911..51568570,2	K562	blood:
5	chr11:70116928..70117493-chr12:51566539..51567098,2	Hela-S3	cervix:
6	chr12:51564447..51569582-chr12:51630930..51635335,8	K562	blood:
7	chr12:51475324..51477948-chr12:51566462..51569488,3	MCF-7	breast:
8	chr12:51563450..51568971-chr12:51609008..51613972,14	K562	blood:
9	chr12:51565300..51568760-chr12:51661642..51664290,3	K562	blood:
10	chr12:51565491..51567919-chr12:51611128..51615638,5	K562	blood:
11	chr12:51440439..51443022-chr12:51565659..51567306,3	K562	blood:
12	chr12:51474365..51480004-chr12:51564069..51568503,12	K562	blood:
13	chr12:51564257..51569582-chr12:51630930..51636873,13	K562	blood:

Variant related genes	Relation type
TFCP2	TF binding region
ENSG00000184271	Chromatin interaction
ENSG00000139629	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000161813	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000199824	Chromatin interaction
ENSG00000050438	Chromatin interaction
ENSG00000131626	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1056897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169726	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169727	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169729	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169731	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169732	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169742	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11169743	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11169752	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11169754	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11738	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12809832	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12810455	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12810596	0.84[AMR][1000 genomes]
rs12810700	0.88[AMR][1000 genomes]
rs12811508	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12813368	0.82[AMR][1000 genomes]
rs12814498	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12815367	0.94[ASN][1000 genomes]
rs12819225	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12819517	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12820559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12820966	0.82[AMR][1000 genomes]
rs12823402	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12826153	0.82[AMR][1000 genomes]
rs12829630	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12833565	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17296192	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34057357	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34481246	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34498074	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6580792	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6580793	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67293043	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7955251	0.94[ASN][1000 genomes]
rs7958064	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7960381	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7964570	0.88[AMR][1000 genomes]
rs7976777	0.84[AMR][1000 genomes]
rs7977104	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs970098	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51564800-51567200	Active TSS	HSMMtube	muscle
2	chr12:51564800-51567400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:51564800-51567400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:51564800-51567400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:51564800-51567400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr12:51564800-51567400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:51564800-51567400	Active TSS	HMEC	breast
8	chr12:51565000-51567000	Active TSS	NH-A	brain
9	chr12:51565000-51567400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr12:51565000-51567400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:51565000-51567400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:51565000-51567400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:51565000-51567400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:51565000-51567400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:51565000-51567400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:51565000-51567400	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr12:51565000-51567400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:51565000-51567400	Active TSS	NHLF	lung
19	chr12:51565000-51567800	Active TSS	K562	blood
20	chr12:51565200-51567200	Active TSS	NHDF-Ad	bronchial
21	chr12:51565200-51567400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:51565200-51567400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:51565200-51567400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:51565200-51567400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:51565200-51567400	Active TSS	GM12878-XiMat	blood
26	chr12:51565200-51567400	Active TSS	HSMM	muscle
27	chr12:51565200-51568600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:51565400-51566800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:51565400-51567000	Active TSS	Muscle Satellite Cultured Cells	--
30	chr12:51565400-51567200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:51565400-51567200	Active TSS	Fetal Intestine Large	intestine
32	chr12:51565400-51567200	Active TSS	Fetal Intestine Small	intestine
33	chr12:51565400-51567400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr12:51565400-51567400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr12:51565400-51567400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:51565400-51567400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:51565400-51567400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:51565400-51567400	Active TSS	Ovary	ovary
39	chr12:51565400-51567400	Active TSS	Psoas Muscle	Psoas
40	chr12:51565400-51567400	Active TSS	Stomach Mucosa	stomach
41	chr12:51565400-51567600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:51565400-51567600	Active TSS	Fetal Brain Female	brain
43	chr12:51565600-51567000	Active TSS	Fetal Muscle Trunk	muscle
44	chr12:51565600-51567000	Active TSS	Fetal Thymus	thymus
45	chr12:51565600-51567000	Bivalent/Poised TSS	HepG2	liver
46	chr12:51565600-51567200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr12:51565600-51567200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:51565600-51567200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:51565600-51567400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr12:51565600-51567400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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