Variant report

Variant	rs5745792
Chromosome Location	chr12:118454301-118454302
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	POLR2A	chr12:118454274-118454815	HUVEC	blood vessel:	n/a	n/a
2	SIN3AK20	chr12:118454178-118455102	A549	lung:	n/a	n/a
3	POLR2A	chr12:118454285-118455083	K562	blood:	n/a	n/a
4	SIN3AK20	chr12:118454246-118454676	A549	lung:	n/a	n/a
5	ZBTB33	chr12:118454299-118454699	HepG2	liver:	n/a	chr12:118454500-118454515
6	SIN3A	chr12:118454075-118455259	H1-hESC	embryonic stem cell:	n/a	chr12:118454312-118454323
7	CTCF	chr12:118454220-118454370	AG09319	gingival:	n/a	chr12:118454312-118454325
8	ETS1	chr12:118454202-118454838	A549	lung:	n/a	chr12:118454713-118454724 chr12:118454322-118454335 chr12:118454476-118454483
9	HCFC1	chr12:118453943-118455308	Hela-S3	cervix:	n/a	n/a
10	UBTF	chr12:118454180-118454811	K562	blood:	n/a	n/a
11	RFX5	chr12:118454247-118454675	HepG2	liver:	n/a	chr12:118454446-118454455 chr12:118454427-118454441 chr12:118454426-118454442 chr12:118454431-118454440 chr12:118454444-118454458 chr12:118454429-118454443
12	ATF2	chr12:118454203-118454739	GM12878	blood:	n/a	n/a
13	MYC	chr12:118454259-118455061	NB4	blood:	n/a	chr12:118454458-118454468
14	NANOG	chr12:118454258-118454554	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3AK20	chr12:118454266-118454682	SK-N-SH	brain:	n/a	n/a
16	CREB1	chr12:118454243-118455066	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr12:118454128-118454526	SK-N-SH_RA	brain:	n/a	chr12:118454315-118454325
18	IRF1	chr12:118454234-118454720	K562	blood:	n/a	chr12:118454386-118454400 chr12:118454459-118454473
19	TBL1XR1	chr12:118454085-118454669	GM12878	blood:	n/a	n/a
20	YY1	chr12:118454300-118455149	K562	blood:	n/a	chr12:118454315-118454329 chr12:118454713-118454724
21	POLR2A	chr12:118454295-118455068	GM12892	blood:	n/a	n/a
22	STAT1	chr12:118454258-118454652	GM12878	blood:	n/a	chr12:118454323-118454335 chr12:118454477-118454484 chr12:118454473-118454481
23	POLR2A	chr12:118454280-118454848	ProgFib	skin:	n/a	n/a
24	MAX	chr12:118454150-118455246	A549	lung:	n/a	chr12:118454458-118454468
25	ZKSCAN1	chr12:118454133-118454706	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr12:118454206-118454876	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:118454278-118455055	GM19193	blood:	n/a	n/a
28	POLR2A	chr12:118454267-118454849	PFSK-1	brain:	n/a	n/a
29	FOXM1	chr12:118454228-118454756	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:118454259-118455365	HepG2	liver:	n/a	n/a
31	TAF1	chr12:118454123-118455009	A549	lung:	n/a	n/a
32	GABPA	chr12:118454067-118455055	MCF-7	breast:	n/a	n/a
33	MAX	chr12:118454275-118455325	NB4	blood:	n/a	chr12:118454458-118454468
34	ZMIZ1	chr12:118454144-118455266	K562	blood:	n/a	n/a
35	MAX	chr12:118454277-118455063	K562	blood:	n/a	chr12:118454458-118454468
36	POLR2A	chr12:118454181-118454894	PANC-1	pancreas:	n/a	n/a
37	CTCF	chr12:118454148-118454696	K562	blood:	n/a	chr12:118454312-118454325
38	TBL1XR1	chr12:118454083-118454673	K562	blood:	n/a	n/a
39	ZBTB33	chr12:118454204-118454860	HCT-116	colon:	n/a	chr12:118454500-118454515
40	SIN3AK20	chr12:118454249-118454781	K562	blood:	n/a	n/a
41	ZBTB33	chr12:118454242-118454722	GM12878	blood:	n/a	chr12:118454500-118454515
42	TEAD4	chr12:118454233-118454753	K562	blood:	n/a	n/a
43	CTCF	chr12:118454300-118454450	GM12871	blood:	n/a	chr12:118454312-118454325
44	SP1	chr12:118454221-118454717	H1-hESC	embryonic stem cell:	n/a	chr12:118454459-118454470 chr12:118454460-118454469 chr12:118454461-118454470 chr12:118454388-118454397 chr12:118454386-118454398 chr12:118454459-118454471 chr12:118454459-118454471 chr12:118454456-118454470 chr12:118454386-118454398 chr12:118454322-118454336
45	FOXM1	chr12:118454168-118454801	GM12878	blood:	n/a	n/a
46	ZEB1	chr12:118454263-118454690	GM12878	blood:	n/a	n/a
47	CTCF	chr12:118454180-118454330	HAc	cerebellar:	n/a	chr12:118454312-118454325
48	CTCF	chr12:118454240-118454390	HCPEpiC	choroid plexus:	n/a	chr12:118454312-118454325
49	MYC	chr12:118454266-118455137	K562	blood:	n/a	chr12:118454458-118454468
50	ZBTB7A	chr12:118454301-118454984	ECC-1	luminal epithelium:	n/a	chr12:118454318-118454326

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:118454258-118454308	GM12878	blood:	n/a
2	chr12:118454258-118454308	MCF10A-Er-Src	breast:	n/a
3	chr12:118454258-118454308	NHBE	bronchial:	n/a
4	chr12:118454258-118454308	AG09309	skin:	n/a
5	chr12:118454258-118454308	AG10803	skin:	n/a
6	chr12:118454258-118454308	AG09319	gingival:	n/a
7	chr12:118454258-118454308	HRCEpiC	kidney:	n/a
8	chr12:118454258-118454308	LNCaP	prostate:	n/a
9	chr12:118454258-118454308	AG04449	skin:	fetal
10	chr12:118454258-118454308	HUVEC	blood vessel:	n/a
11	chr12:118454258-118454308	HNPCEpiC	eye:	n/a
12	chr12:118454258-118454308	HL-60	blood:	n/a
13	chr12:118454258-118454308	SK-N-SH_RA	brain:	n/a
14	chr12:118454258-118454308	HCM	heart:	n/a
15	chr12:118454258-118454308	GM12892	blood:	n/a
16	chr12:118454258-118454308	A549	lung:	n/a
17	chr12:118454258-118454308	HepG2	liver:	n/a
18	chr12:118454258-118454308	ovcar-3	ovarian:	n/a
19	chr12:118454258-118454308	GM12891	blood:	n/a
20	chr12:118454258-118454308	IMR90	lung:	fetal
21	chr12:118454258-118454308	MCF-7	breast:	n/a
22	chr12:118454258-118454308	SK-N-SH	brain:	n/a
23	chr12:118454258-118454308	U87	brain:	n/a
24	chr12:118454258-118454308	HIPEpiC	eye:	n/a
25	chr12:118454258-118454308	NH-A	brain:	n/a
26	chr12:118454258-118454308	NHDF-neo	bronchial:	n/a
27	chr12:118454258-118454308	NB4	blood:	n/a
28	chr12:118454258-118454308	BJ	skin:	n/a
29	chr12:118454258-118454308	T-47D	breast:	n/a
30	chr12:118454258-118454308	SAEC	small airway:	n/a
31	chr12:118454258-118454308	PANC-1	pancreas:	n/a
32	chr12:118454258-118454308	CMK	blood:	n/a
33	chr12:118454258-118454308	NT2-D1	testis:	n/a
34	chr12:118454258-118454308	H1-hESC	embryonic stem cell:	embryo
35	chr12:118454258-118454308	GM19239	blood:	n/a
36	chr12:118454258-118454308	HRE	kidney:	n/a
37	chr12:118454258-118454308	Hepatocyte	liver:	n/a
38	chr12:118454258-118454308	HMEC	breast:	n/a
39	chr12:118454258-118454308	AoSMC	blood vessel:	n/a
40	chr12:118454258-118454308	BE2_C	brain:	n/a
41	chr12:118454258-118454308	RPTEC	kidney:	n/a
42	chr12:118454258-118454308	HAEpiC	amniotic membrane:	n/a
43	chr12:118454258-118454308	HCF	heart:	n/a
44	chr12:118454258-118454308	HCT-116	colon:	n/a
45	chr12:118454258-118454308	ECC-1	luminal epithelium:	n/a
46	chr12:118454258-118454308	PrEC	prostate:	n/a
47	chr12:118454258-118454308	K562	blood:	n/a
48	chr12:118454258-118454308	HCPEpiC	choroid plexus:	n/a
49	chr12:118454258-118454308	SK-N-MC	brain:	n/a
50	chr12:118454258-118454308	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr12:118405835..118408999-chr12:118453081..118456822,7	MCF-7	breast:
2	chr12:118450883..118457954-chr12:118495063..118502199,13	K562	blood:
3	chr12:118453031..118454691-chr12:118496978..118499714,2	K562	blood:
4	chr12:118454191..118455028-chr6:43737829..43738504,2	Hela-S3	cervix:
5	chr12:118453491..118456024-chr12:118464128..118465788,2	MCF-7	breast:
6	chr12:118404870..118409245-chr12:118453149..118456741,6	MCF-7	breast:
7	chr12:118453440..118456018-chr12:118464200..118466334,2	MCF-7	breast:

Variant related genes	Relation type
RFC5	TF binding region
RFC5	CpG island
ENSG00000272114	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000171435	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000111445	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11068779	0.82[AMR][1000 genomes]
rs11068780	0.85[AMR][1000 genomes]
rs12313999	0.82[AMR][1000 genomes]
rs12578639	0.82[AMR][1000 genomes]
rs12580039	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12582265	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs55973710	0.91[AMR][1000 genomes]
rs5745807	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5745808	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5745820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5745876	0.82[AMR][1000 genomes]
rs58436126	0.85[AMR][1000 genomes]
rs58639682	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs60777883	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61094951	0.82[AMR][1000 genomes]
rs7485548	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7488835	0.86[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	nsv560388	chr12:118391600-118482352	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118453800-118454400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:118453800-118454400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:118453800-118454400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
4	chr12:118453800-118454400	Enhancers	Fetal Heart	heart
5	chr12:118453800-118454400	Enhancers	Stomach Mucosa	stomach
6	chr12:118453800-118454400	Flanking Active TSS	NH-A	brain
7	chr12:118453800-118454800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:118453800-118454800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:118453800-118454800	Active TSS	Stomach Smooth Muscle	stomach
10	chr12:118453800-118455000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:118453800-118455000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:118453800-118455000	Active TSS	Brain Anterior Caudate	brain
13	chr12:118453800-118455000	Active TSS	Brain Germinal Matrix	brain
14	chr12:118453800-118455000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr12:118453800-118455000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:118453800-118455000	Active TSS	Colon Smooth Muscle	Colon
17	chr12:118453800-118455000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr12:118453800-118455000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr12:118453800-118455200	Flanking Active TSS	Liver	Liver
20	chr12:118453800-118455200	Active TSS	GM12878-XiMat	blood
21	chr12:118453800-118455200	Active TSS	NHDF-Ad	bronchial
22	chr12:118453800-118455400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr12:118453800-118455400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:118453800-118455400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:118453800-118455600	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr12:118453800-118455600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr12:118454000-118454400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:118454000-118454400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:118454000-118454400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr12:118454000-118454400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:118454000-118454400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr12:118454000-118454400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:118454000-118454400	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr12:118454000-118454400	Flanking Active TSS	Fetal Thymus	thymus
35	chr12:118454000-118454400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr12:118454000-118454400	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr12:118454000-118454400	Enhancers	Small Intestine	intestine
38	chr12:118454000-118454400	Flanking Active TSS	NHEK	skin
39	chr12:118454000-118454600	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr12:118454000-118454800	Active TSS	Brain Angular Gyrus	brain
41	chr12:118454000-118454800	Active TSS	Pancreas	Pancrea
42	chr12:118454000-118454800	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr12:118454000-118454800	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr12:118454000-118455000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:118454000-118455000	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr12:118454000-118455000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:118454000-118455000	Active TSS	Aorta	Aorta
48	chr12:118454000-118455000	Active TSS	Brain Cingulate Gyrus	brain
49	chr12:118454000-118455000	Active TSS	Duodenum Mucosa	Duodenum
50	chr12:118454000-118455000	Active TSS	Fetal Intestine Large	intestine

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