Variant report

Variant	rs12965052
Chromosome Location	chr18:45665900-45665901
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	CHD2	chr18:45665646-45666530	Hela-S3	cervix:	n/a	n/a
2	MAX	chr18:45665884-45666686	MCF-7	breast:	n/a	chr18:45666362-45666369 chr18:45666360-45666371 chr18:45666360-45666370 chr18:45666361-45666370
3	NFYB	chr18:45665801-45666076	Hela-S3	cervix:	n/a	n/a
4	ZBTB7A	chr18:45665519-45666515	ECC-1	luminal epithelium:	n/a	chr18:45666469-45666480
5	TFAP2C	chr18:45665290-45666666	Hela-S3	cervix:	n/a	n/a
6	MXI1	chr18:45665612-45666543	Hela-S3	cervix:	n/a	n/a
7	TEAD4	chr18:45665520-45666259	ECC-1	luminal epithelium:	n/a	n/a
8	NFIC	chr18:45664862-45666539	ECC-1	luminal epithelium:	n/a	n/a
9	TEAD4	chr18:45665621-45666234	ECC-1	luminal epithelium:	n/a	n/a
10	TCF12	chr18:45664956-45666429	ECC-1	luminal epithelium:	n/a	chr18:45665586-45665593 chr18:45666411-45666418 chr18:45666097-45666104 chr18:45665540-45665547
11	NR3C1	chr18:45665608-45666296	ECC-1	luminal epithelium:	n/a	chr18:45666146-45666159
12	NFYA	chr18:45665794-45666195	Hela-S3	cervix:	n/a	n/a
13	GTF2F1	chr18:45665740-45666040	Hela-S3	cervix:	n/a	n/a
14	EP300	chr18:45665522-45666361	ECC-1	luminal epithelium:	n/a	chr18:45666229-45666238
15	ZNF143	chr18:45665486-45666432	Hela-S3	cervix:	n/a	chr18:45665551-45665570
16	EP300	chr18:45665769-45666181	Hela-S3	cervix:	n/a	n/a
17	MAFK	chr18:45665676-45666171	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr18:45665798-45666324	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr18:45665773-45666392	Hela-S3	cervix:	n/a	n/a
20	REST	chr18:45665746-45666147	ECC-1	luminal epithelium:	n/a	chr18:45665933-45665942
21	RAD21	chr18:45665693-45666151	Hela-S3	cervix:	n/a	chr18:45666093-45666105 chr18:45666102-45666112
22	ZKSCAN1	chr18:45665474-45666120	Hela-S3	cervix:	n/a	n/a
23	EP300	chr18:45664786-45666605	ECC-1	luminal epithelium:	n/a	chr18:45666509-45666519 chr18:45665252-45665262 chr18:45666229-45666238
24	MAX	chr18:45665623-45666792	ECC-1	luminal epithelium:	n/a	chr18:45666362-45666369 chr18:45666360-45666371 chr18:45666360-45666370 chr18:45666361-45666370
25	MAZ	chr18:45665456-45666629	Hela-S3	cervix:	n/a	chr18:45666362-45666369 chr18:45666360-45666371 chr18:45666360-45666370 chr18:45666361-45666370
26	SMC3	chr18:45665740-45666414	Hela-S3	cervix:	n/a	chr18:45666102-45666112
27	TCF7L2	chr18:45665553-45666498	Hela-S3	cervix:	n/a	n/a
28	REST	chr18:45665763-45666140	Hela-S3	cervix:	n/a	chr18:45665933-45665942
29	USF2	chr18:45665606-45666824	Hela-S3	cervix:	n/a	n/a
30	REST	chr18:45665703-45666147	ECC-1	luminal epithelium:	n/a	chr18:45665933-45665942 chr18:45665728-45665736
31	ESR1	chr18:45665695-45666152	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr18:45665715-45666385	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr18:45665617-45666174	Hela-S3	cervix:	n/a	n/a
34	TBP	chr18:45665711-45666255	Hela-S3	cervix:	n/a	n/a
35	MAX	chr18:45665421-45666665	Hela-S3	cervix:	n/a	chr18:45666362-45666369 chr18:45666360-45666371 chr18:45666360-45666370 chr18:45666361-45666370
36	ELK1	chr18:45665678-45666381	Hela-S3	cervix:	n/a	n/a
37	ESR1	chr18:45665619-45666190	ECC-1	luminal epithelium:	n/a	n/a
38	RFX5	chr18:45665675-45666385	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr18:45665674-45666400	Hela-S3	cervix:	n/a	n/a
40	TCF12	chr18:45664987-45666533	ECC-1	luminal epithelium:	n/a	chr18:45665586-45665593 chr18:45666510-45666519 chr18:45666411-45666418 chr18:45666097-45666104 chr18:45665540-45665547
41	NR3C1	chr18:45665740-45666176	ECC-1	luminal epithelium:	n/a	chr18:45666146-45666159
42	REST	chr18:45665750-45666125	Hela-S3	cervix:	n/a	chr18:45665933-45665942
43	RCOR1	chr18:45665601-45666570	Hela-S3	cervix:	n/a	n/a
44	MAX	chr18:45665675-45666679	Hela-S3	cervix:	n/a	chr18:45666362-45666369 chr18:45666360-45666371 chr18:45666360-45666370 chr18:45666361-45666370
45	NFIC	chr18:45664718-45666531	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr18:45665698-45666680	ECC-1	luminal epithelium:	n/a	chr18:45666362-45666369 chr18:45666360-45666371 chr18:45666360-45666370 chr18:45666361-45666370
47	TFAP2A	chr18:45665486-45666666	Hela-S3	cervix:	n/a	chr18:45665917-45665929
48	MYC	chr18:45665711-45666679	Hela-S3	cervix:	n/a	chr18:45666362-45666369 chr18:45666360-45666371 chr18:45666360-45666370 chr18:45666361-45666370
49	STAT3	chr18:45665738-45666087	Hela-S3	cervix:	n/a	chr18:45665982-45665994
50	REST	chr18:45665823-45666072	H1-hESC	embryonic stem cell:	n/a	chr18:45665933-45665942

No.	Distal block	Cell Line	Cell type
1	chr18:45658580..45662145-chr18:45664603..45667810,4	MCF-7	breast:
2	chr18:45665789..45668070-chr18:45669846..45671531,2	MCF-7	breast:
3	chr18:45641054..45643566-chr18:45664134..45666648,2	MCF-7	breast:

Variant related genes	Relation type
ZBTB7C	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs4076363	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4076364	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4078130	0.96[ASN][1000 genomes]
rs61322349	0.93[ASN][1000 genomes]
rs6507818	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7243021	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7243437	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8091725	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8098626	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9951415	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9953845	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][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	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45663600-45666000	Weak transcription	Left Ventricle	heart
2	chr18:45663600-45666200	Weak transcription	Psoas Muscle	Psoas
3	chr18:45663600-45667400	Enhancers	Placenta	Placenta
4	chr18:45663600-45667400	Enhancers	Spleen	Spleen
5	chr18:45663800-45666200	Weak transcription	Right Atrium	heart
6	chr18:45663800-45666400	Enhancers	HSMMtube	muscle
7	chr18:45663800-45666600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr18:45663800-45666600	Flanking Active TSS	Hela-S3	cervix
9	chr18:45663800-45667400	Enhancers	Gastric	stomach
10	chr18:45663800-45667800	Enhancers	Esophagus	oesophagus
11	chr18:45663800-45679800	Weak transcription	Aorta	Aorta
12	chr18:45664000-45666400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:45664000-45667600	Enhancers	Stomach Mucosa	stomach
14	chr18:45664000-45670400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr18:45664200-45667400	Enhancers	Colonic Mucosa	Colon
16	chr18:45664200-45667400	Enhancers	Lung	lung
17	chr18:45664400-45667400	Enhancers	Duodenum Mucosa	Duodenum
18	chr18:45664600-45667000	Enhancers	Dnd41	blood
19	chr18:45664600-45667400	Enhancers	Pancreas	Pancrea
20	chr18:45665200-45666200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr18:45665200-45666200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr18:45665200-45666400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr18:45665200-45666400	Enhancers	Stomach Smooth Muscle	stomach
24	chr18:45665200-45667400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:45665400-45666000	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr18:45665400-45666400	Weak transcription	Fetal Kidney	kidney
27	chr18:45665400-45666800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:45665400-45666800	Enhancers	HMEC	breast
29	chr18:45665400-45667400	Enhancers	Ovary	ovary
30	chr18:45665600-45666000	Weak transcription	Right Ventricle	heart
31	chr18:45665600-45666800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr18:45665600-45667000	Enhancers	Fetal Intestine Large	intestine
33	chr18:45665600-45667600	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr18:45665600-45668400	Enhancers	Fetal Heart	heart
35	chr18:45665800-45666000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr18:45665800-45666000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr18:45665800-45666200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr18:45665800-45666200	Bivalent Enhancer	Brain Germinal Matrix	brain
39	chr18:45665800-45666200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr18:45665800-45666400	Bivalent Enhancer	Fetal Stomach	stomach
41	chr18:45665800-45666800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr18:45665800-45666800	Enhancers	Liver	Liver
43	chr18:45665800-45667000	Enhancers	Fetal Intestine Small	intestine
44	chr18:45665800-45670400	Enhancers	Rectal Mucosa Donor 31	rectum

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