Variant report

Variant	rs7979728
Chromosome Location	chr12:51632507-51632508
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	STAT1	chr12:51632087-51633136	GM12878	blood:	n/a	n/a
2	CTCF	chr12:51632360-51632510	HFF-Myc	foreskin:	n/a	n/a
3	TCF12	chr12:51632457-51633126	GM12878	blood:	n/a	n/a
4	NFYB	chr12:51632414-51633410	GM12878	blood:	n/a	n/a
5	SP1	chr12:51632148-51633190	HepG2	liver:	n/a	chr12:51633010-51633031 chr12:51632492-51632504 chr12:51632474-51632484 chr12:51632470-51632484 chr12:51632473-51632485 chr12:51632474-51632483 chr12:51633029-51633041 chr12:51632475-51632484 chr12:51633030-51633039 chr12:51633031-51633040 chr12:51632492-51632504 chr12:51632474-51632484 chr12:51633029-51633041 chr12:51632473-51632485
6	GTF2F1	chr12:51632244-51633215	K562	blood:	n/a	n/a
7	NFE2	chr12:51632429-51632814	GM12878	blood:	n/a	chr12:51632603-51632612
8	POLR2A	chr12:51632388-51633317	HUVEC	blood vessel:	n/a	n/a
9	CREB1	chr12:51632257-51633255	K562	blood:	n/a	n/a
10	USF1	chr12:51632452-51633156	HepG2	liver:	n/a	n/a
11	ETS1	chr12:51632343-51633256	A549	lung:	n/a	chr12:51633025-51633036 chr12:51632550-51632566
12	TAF1	chr12:51632450-51633143	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:51632011-51633402	HUVEC	blood vessel:	n/a	n/a
14	FOS	chr12:51632425-51633199	GM12878	blood:	n/a	n/a
15	YY1	chr12:51632386-51633038	GM12878	blood:	n/a	chr12:51633027-51633036 chr12:51633024-51633038
16	SIX5	chr12:51631851-51633248	A549	lung:	n/a	n/a
17	ELF1	chr12:51632358-51633154	K562	blood:	n/a	chr12:51633027-51633036 chr12:51632610-51632621 chr12:51632557-51632566 chr12:51633028-51633040 chr12:51632931-51632943
18	PAX5	chr12:51632351-51633273	GM12878	blood:	n/a	chr12:51632629-51632638 chr12:51632359-51632378
19	PBX3	chr12:51632100-51633357	SK-N-SH	brain:	n/a	n/a
20	MAZ	chr12:51632260-51633260	GM12878	blood:	n/a	chr12:51632603-51632612
21	BRCA1	chr12:51632391-51633135	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr12:51632360-51632510	GM12878	blood:	n/a	n/a
23	CTCF	chr12:51632400-51632550	GM12872	blood:	n/a	n/a
24	POLR2A	chr12:51632498-51633230	SK-N-SH	brain:	n/a	n/a
25	TBL1XR1	chr12:51632325-51633149	K562	blood:	n/a	n/a
26	GABPA	chr12:51632207-51633213	K562	blood:	n/a	n/a
27	SP1	chr12:51632013-51633395	HCT-116	colon:	n/a	chr12:51633010-51633031 chr12:51632492-51632504 chr12:51632474-51632484 chr12:51632470-51632484 chr12:51632473-51632485 chr12:51632474-51632483 chr12:51633029-51633041 chr12:51632475-51632484 chr12:51633030-51633039 chr12:51633031-51633040 chr12:51632492-51632504 chr12:51632474-51632484 chr12:51633029-51633041 chr12:51632473-51632485
28	MAZ	chr12:51632193-51633180	HepG2	liver:	n/a	chr12:51632603-51632612
29	CREB1	chr12:51632267-51632727	A549	lung:	n/a	n/a
30	TAF1	chr12:51632266-51633295	GM12878	blood:	n/a	n/a
31	YY1	chr12:51632436-51633158	GM12891	blood:	n/a	chr12:51633027-51633036 chr12:51633024-51633038 chr12:51633038-51633052
32	ELF1	chr12:51632265-51633141	A549	lung:	n/a	chr12:51633027-51633036 chr12:51632610-51632621 chr12:51632557-51632566 chr12:51633028-51633040 chr12:51632931-51632943
33	CTCF	chr12:51632420-51632570	HCM	heart:	n/a	n/a
34	POLR2A	chr12:51632280-51633463	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr12:51632162-51633307	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr12:51631984-51633230	PBDE	blood:	n/a	n/a
37	MAX	chr12:51631844-51633316	ECC-1	luminal epithelium:	n/a	chr12:51632603-51632612
38	CCNT2	chr12:51632384-51633188	K562	blood:	n/a	chr12:51632474-51632483
39	CTCF	chr12:51632360-51632510	GM12873	blood:	n/a	n/a
40	TCF12	chr12:51631889-51633425	ECC-1	luminal epithelium:	n/a	chr12:51632025-51632032
41	GATA3	chr12:51632170-51632925	T-47D	breast:	n/a	n/a
42	CTCF	chr12:51632360-51632510	GM12864	blood:	n/a	n/a
43	POLR2A	chr12:51632268-51633258	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:51632275-51633238	HCT-116	colon:	n/a	n/a
45	POLR2A	chr12:51632089-51633392	U87	brain:	n/a	n/a
46	POLR2A	chr12:51631987-51633940	K562	blood:	n/a	n/a
47	USF2	chr12:51632384-51633210	GM12878	blood:	n/a	chr12:51632602-51632613
48	ZNF143	chr12:51632032-51633150	K562	blood:	n/a	chr12:51633024-51633034
49	NFIC	chr12:51632186-51633294	GM12878	blood:	n/a	chr12:51632284-51632301 chr12:51632285-51632301
50	POLR2A	chr12:51632391-51633051	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:51597757..51600269-chr12:51632271..51633974,2	MCF-7	breast:
2	chr12:51632477..51633078-chr17:8076456..8076989,2	Hela-S3	cervix:
3	chr12:51475685..51480588-chr12:51631516..51635411,7	K562	blood:
4	chr12:51632484..51633394-chr19:30096546..30097527,2	Hela-S3	cervix:
5	chr12:51630916..51632969-chr12:51661911..51664202,4	MCF-7	breast:
6	chr12:51631526..51635212-chr12:51662486..51664929,4	MCF-7	breast:
7	chr12:51564447..51569582-chr12:51630930..51635335,8	K562	blood:
8	chr12:51441619..51444815-chr12:51631402..51636504,5	K562	blood:
9	chr12:51440782..51445752-chr12:51631445..51635429,5	MCF-7	breast:
10	chr12:51632319..51632965-chr3:73160121..73160624,2	NB4	blood:
11	chr12:51610630..51613333-chr12:51630974..51632942,2	MCF-7	breast:
12	chr12:51475046..51479825-chr12:51631265..51637401,17	MCF-7	breast:
13	chr12:51420182..51422992-chr12:51631104..51633893,3	MCF-7	breast:
14	chr12:51632365..51633124-chr9:140082585..140083461,2	Hela-S3	cervix:
15	chr10:75757591..75758282-chr12:51632263..51633023,2	Hela-S3	cervix:
16	chr12:51440639..51443821-chr12:51630707..51634068,3	K562	blood:
17	chr12:51611183..51613531-chr12:51631479..51634171,5	MCF-7	breast:
18	chr12:51632313..51632920-chr7:73152528..73153276,2	Hela-S3	cervix:
19	chr12:51470174..51472582-chr12:51632362..51634494,2	K562	blood:
20	chr12:51609133..51616659-chr12:51628963..51635200,14	K562	blood:
21	chr12:51417478..51420284-chr12:51632474..51634014,2	MCF-7	breast:
22	chr12:51474566..51481175-chr12:51630411..51639813,21	MCF-7	breast:
23	chr12:51632180..51632977-chr6:74230623..74231461,2	Hela-S3	cervix:
24	chr12:51442131..51443654-chr12:51632359..51634023,2	MCF-7	breast:
25	chr12:51475977..51480172-chr12:51631546..51634625,6	K562	blood:
26	chr12:51564257..51569582-chr12:51630930..51636873,13	K562	blood:
27	chr12:51632053..51632784-chr6:31795467..31796024,2	Hela-S3	cervix:
28	chr12:51611105..51614311-chr12:51630494..51636750,15	K562	blood:

Variant related genes	Relation type
DAZAP2	TF binding region
ENSG00000135457	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000106077	Chromatin interaction
ENSG00000035403	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000105171	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000176101	Chromatin interaction
ENSG00000176248	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73109020	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73109022	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[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	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	chr12:51631800-51632600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr12:51631800-51632600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr12:51631800-51633000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr12:51631800-51633200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:51631800-51633600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:51631800-51633600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:51631800-51633600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:51631800-51633600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:51631800-51633600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:51631800-51633600	Active TSS	Colonic Mucosa	Colon
11	chr12:51631800-51633600	Active TSS	Fetal Intestine Large	intestine
12	chr12:51631800-51633600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr12:51631800-51633600	Active TSS	Fetal Stomach	stomach
14	chr12:51631800-51633600	Active TSS	A549	lung
15	chr12:51631800-51633600	Active TSS	NHDF-Ad	bronchial
16	chr12:51631800-51633800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr12:51631800-51633800	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr12:51631800-51633800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:51631800-51633800	Active TSS	Psoas Muscle	Psoas
20	chr12:51631800-51633800	Active TSS	Right Ventricle	heart
21	chr12:51631800-51634000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr12:51631800-51634000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:51632000-51633000	Transcr. at gene 5' and 3'	Right Atrium	heart
24	chr12:51632000-51633200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr12:51632000-51633200	Bivalent/Poised TSS	HepG2	liver
26	chr12:51632000-51633600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:51632000-51633600	Active TSS	Esophagus	oesophagus
28	chr12:51632000-51633600	Active TSS	Fetal Lung	lung
29	chr12:51632000-51633600	Active TSS	Fetal Muscle Trunk	muscle
30	chr12:51632000-51633600	Active TSS	Left Ventricle	heart
31	chr12:51632000-51633600	Active TSS	HSMM	muscle
32	chr12:51632000-51633800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:51632000-51633800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:51632000-51633800	Active TSS	Aorta	Aorta
35	chr12:51632000-51633800	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr12:51632000-51633800	Active TSS	NHLF	lung
37	chr12:51632000-51634000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:51632000-51634000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:51632000-51634000	Active TSS	Gastric	stomach
40	chr12:51632000-51634200	Active TSS	Stomach Mucosa	stomach
41	chr12:51632200-51632600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr12:51632200-51632600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:51632200-51632600	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr12:51632200-51633400	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr12:51632200-51633600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:51632200-51633600	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr12:51632200-51633600	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr12:51632200-51633600	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr12:51632200-51633600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:51632200-51633600	Active TSS	Primary T helper naive cells from peripheral blood	blood

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