Variant report

Variant	rs555704693
Chromosome Location	chr12:121148307-121148308
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	chr12:121148193-121148584	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:121148163-121148566	A549	lung:	n/a	n/a
3	POLR2A	chr12:121148164-121148451	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr12:121148138-121148576	U87	brain:	n/a	n/a
5	SIN3AK20	chr12:121148184-121148568	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr12:121148199-121148591	H1-hESC	embryonic stem cell:	n/a	n/a
7	HEY1	chr12:121148184-121148477	K562	blood:	n/a	n/a
8	MAX	chr12:121147865-121148658	A549	lung:	n/a	n/a
9	YY1	chr12:121148157-121148448	HepG2	liver:	n/a	chr12:121148251-121148260 chr12:121148256-121148264 chr12:121148253-121148272 chr12:121148255-121148265 chr12:121148255-121148277 chr12:121148254-121148266 chr12:121148258-121148266 chr12:121148252-121148272
10	TAF1	chr12:121148166-121148563	SK-N-SH	brain:	n/a	n/a
11	MAZ	chr12:121147984-121148497	GM12878	blood:	n/a	n/a
12	CTCF	chr12:121148300-121148450	AG04449	skin:	n/a	n/a
13	ZNF143	chr12:121147976-121148479	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:121147974-121148494	GM12892	blood:	n/a	n/a
15	MTA3	chr12:121148140-121148548	GM12878	blood:	n/a	n/a
16	EGR1	chr12:121148014-121148491	ECC-1	luminal epithelium:	n/a	chr12:121148248-121148258 chr12:121148185-121148199 chr12:121148163-121148177
17	TAF1	chr12:121148026-121148494	A549	lung:	n/a	n/a
18	POLR2A	chr12:121148095-121148496	K562	blood:	n/a	n/a
19	UBTF	chr12:121148130-121149162	K562	blood:	n/a	n/a
20	PML	chr12:121148057-121148533	MCF-7	breast:	n/a	n/a
21	POLR2A	chr12:121147986-121149563	Raji	blood:	n/a	n/a
22	YY1	chr12:121147918-121148574	NT2-D1	testis:	n/a	chr12:121148251-121148260 chr12:121148256-121148264 chr12:121148253-121148272 chr12:121148255-121148265 chr12:121148255-121148277 chr12:121148254-121148266 chr12:121148258-121148266 chr12:121148536-121148550 chr12:121148252-121148272
23	YY1	chr12:121148146-121149111	GM12892	blood:	n/a	chr12:121148251-121148260 chr12:121148256-121148264 chr12:121148253-121148272 chr12:121148255-121148265 chr12:121148255-121148277 chr12:121148254-121148266 chr12:121149005-121149019 chr12:121148258-121148266 chr12:121148536-121148550 chr12:121148252-121148272
24	POLR2A	chr12:121148176-121148542	PANC-1	pancreas:	n/a	n/a
25	MAZ	chr12:121147647-121149194	IMR90	lung:	n/a	n/a
26	YY1	chr12:121148103-121148741	SK-N-SH_RA	brain:	n/a	chr12:121148251-121148260 chr12:121148256-121148264 chr12:121148253-121148272 chr12:121148255-121148265 chr12:121148255-121148277 chr12:121148254-121148266 chr12:121148258-121148266 chr12:121148536-121148550 chr12:121148252-121148272
27	POLR2A	chr12:121147917-121148512	HEK293	kidney:	n/a	n/a
28	POLR2A	chr12:121147948-121149086	GM18951	blood:	n/a	n/a
29	MAX	chr12:121148037-121149151	K562	blood:	n/a	n/a
30	TCF12	chr12:121148192-121148453	GM12878	blood:	n/a	n/a
31	ZBTB7A	chr12:121148173-121148406	K562	blood:	n/a	n/a
32	CCNT2	chr12:121148239-121149105	K562	blood:	n/a	chr12:121148933-121148942
33	CREB1	chr12:121148175-121148704	A549	lung:	n/a	n/a
34	YY1	chr12:121148063-121148552	K562	blood:	n/a	chr12:121148251-121148260 chr12:121148256-121148264 chr12:121148253-121148272 chr12:121148255-121148265 chr12:121148255-121148277 chr12:121148254-121148266 chr12:121148258-121148266 chr12:121148536-121148550 chr12:121148252-121148272
35	POLR2A	chr12:121147677-121149001	MCF-7	breast:	n/a	n/a
36	SIN3AK20	chr12:121148205-121148513	HepG2	liver:	n/a	n/a
37	POLR2A	chr12:121148167-121148568	HCT-116	colon:	n/a	n/a
38	YY1	chr12:121148055-121148492	K562	blood:	n/a	chr12:121148251-121148260 chr12:121148256-121148264 chr12:121148253-121148272 chr12:121148255-121148265 chr12:121148255-121148277 chr12:121148254-121148266 chr12:121148258-121148266 chr12:121148252-121148272
39	POLR2A	chr12:121147875-121148587	H1-hESC	embryonic stem cell:	n/a	n/a
40	YY1	chr12:121147929-121148719	GM12878	blood:	n/a	chr12:121148251-121148260 chr12:121148256-121148264 chr12:121148253-121148272 chr12:121148255-121148265 chr12:121148255-121148277 chr12:121148254-121148266 chr12:121148258-121148266 chr12:121148536-121148550 chr12:121148252-121148272
41	HCFC1	chr12:121148239-121148526	K562	blood:	n/a	n/a
42	E2F6	chr12:121148187-121148764	K562	blood:	n/a	n/a
43	POLR2A	chr12:121147874-121148479	GM12878	blood:	n/a	n/a
44	MAZ	chr12:121147948-121149063	Hela-S3	cervix:	n/a	n/a
45	MAX	chr12:121147767-121148712	MCF-7	breast:	n/a	n/a
46	MAZ	chr12:121147986-121148418	HepG2	liver:	n/a	n/a
47	POLR2A	chr12:121148187-121148498	K562	blood:	n/a	n/a
48	YY1	chr12:121148152-121148717	GM12878	blood:	n/a	chr12:121148251-121148260 chr12:121148256-121148264 chr12:121148253-121148272 chr12:121148255-121148265 chr12:121148255-121148277 chr12:121148254-121148266 chr12:121148258-121148266 chr12:121148536-121148550 chr12:121148252-121148272
49	MAX	chr12:121147697-121149313	A549	lung:	n/a	n/a
50	EGR1	chr12:121148133-121148361	GM12878	blood:	n/a	chr12:121148248-121148258 chr12:121148185-121148199 chr12:121148163-121148177

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121148294-121148344	T-47D	breast:	n/a
2	chr12:121148294-121148344	SKMC	muscle:	n/a
3	chr12:121148294-121148344	A549	lung:	n/a
4	chr12:121148294-121148344	HRPEpiC	eye:	n/a
5	chr12:121148294-121148344	AG09319	gingival:	n/a
6	chr12:121148294-121148344	NHDF-neo	bronchial:	n/a
7	chr12:121148294-121148344	SK-N-SH_RA	brain:	n/a
8	chr12:121148294-121148344	AG09309	skin:	n/a
9	chr12:121148294-121148344	ProgFib	skin:	n/a
10	chr12:121148294-121148344	AoSMC	blood vessel:	n/a
11	chr12:121148294-121148344	HUVEC	blood vessel:	n/a
12	chr12:121148294-121148344	HCF	heart:	n/a
13	chr12:121148294-121148344	AG04450	lung:	fetal
14	chr12:121148294-121148344	GM06990	blood:	n/a
15	chr12:121148294-121148344	PFSK-1	brain:	n/a
16	chr12:121148294-121148344	PrEC	prostate:	n/a
17	chr12:121148294-121148344	HNPCEpiC	eye:	n/a
18	chr12:121148294-121148344	HEK293	kidney:	embryo
19	chr12:121148294-121148344	BJ	skin:	n/a
20	chr12:121148294-121148344	HepG2	liver:	n/a
21	chr12:121148294-121148344	Jurkat	blood:	n/a
22	chr12:121148294-121148344	HAEpiC	amniotic membrane:	n/a
23	chr12:121148294-121148344	HEEpiC	esophagus:	n/a
24	chr12:121148294-121148344	HPAEpiC	pulmonary alveolar:	n/a
25	chr12:121148294-121148344	NT2-D1	testis:	n/a
26	chr12:121148294-121148344	CMK	blood:	n/a
27	chr12:121148294-121148344	GM12878	blood:	n/a
28	chr12:121148294-121148344	GM12892	blood:	n/a
29	chr12:121148294-121148344	ovcar-3	ovarian:	n/a
30	chr12:121148294-121148344	HCT-116	colon:	n/a
31	chr12:121148294-121148344	AG10803	skin:	n/a
32	chr12:121148294-121148344	MCF-7	breast:	n/a
33	chr12:121148294-121148344	PANC-1	pancreas:	n/a
34	chr12:121148294-121148344	HCM	heart:	n/a
35	chr12:121148294-121148344	GM19239	blood:	n/a
36	chr12:121148294-121148344	IMR90	lung:	fetal
37	chr12:121148294-121148344	AG04449	skin:	fetal
38	chr12:121148294-121148344	NB4	blood:	n/a
39	chr12:121148294-121148344	U87	brain:	n/a
40	chr12:121148294-121148344	Hela-S3	cervix:	n/a
41	chr12:121148294-121148344	NH-A	brain:	n/a
42	chr12:121148294-121148344	HCPEpiC	choroid plexus:	n/a
43	chr12:121148294-121148344	LNCaP	prostate:	n/a
44	chr12:121148294-121148344	RPTEC	kidney:	n/a
45	chr12:121148294-121148344	HL-60	blood:	n/a
46	chr12:121148294-121148344	Caco-2	colon:	n/a
47	chr12:121148294-121148344	Hepatocyte	liver:	n/a
48	chr12:121148294-121148344	NHBE	bronchial:	n/a
49	chr12:121148294-121148344	HMEC	breast:	n/a
50	chr12:121148294-121148344	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
2	chr12:121148056..121150871-chr12:121436598..121439075,2	MCF-7	breast:
3	chr12:121133471..121136112-chr12:121146959..121149468,2	MCF-7	breast:
4	chr12:121122969..121126872-chr12:121145365..121151601,10	K562	blood:
5	chr12:121122617..121126013-chr12:121146742..121149972,4	MCF-7	breast:
6	chr12:121123292..121126341-chr12:121146632..121149740,5	MCF-7	breast:

Variant related genes	Relation type
UNC119B	TF binding region
UNC119B	CpG island
ENSG00000256569	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000271769	Chromatin interaction
ENSG00000265455	Chromatin interaction
ENSG00000122971	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv3330833	chr12:121148056-121149683	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 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	chr12:121147600-121148400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:121147600-121149400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:121147800-121148800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:121147800-121149000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr12:121147800-121149000	Active TSS	Aorta	Aorta
6	chr12:121147800-121149000	Active TSS	Rectal Smooth Muscle	rectum
7	chr12:121147800-121149000	Active TSS	HSMMtube	muscle
8	chr12:121147800-121149200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:121147800-121149200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr12:121147800-121149200	Active TSS	Osteobl	bone
11	chr12:121147800-121149400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:121147800-121149600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr12:121147800-121149600	Active TSS	Fetal Kidney	kidney
14	chr12:121147800-121149600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr12:121148000-121148400	Active TSS	Primary B cells from cord blood	blood
16	chr12:121148000-121148400	Active TSS	Primary hematopoietic stem cells	blood
17	chr12:121148000-121148400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:121148000-121148600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:121148000-121148600	Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr12:121148000-121148600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:121148000-121148600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:121148000-121148600	Active TSS	Right Ventricle	heart
23	chr12:121148000-121148600	Active TSS	HepG2	liver
24	chr12:121148000-121148600	Active TSS	Monocytes-CD14+_RO01746	blood
25	chr12:121148000-121148800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:121148000-121148800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:121148000-121148800	Active TSS	Primary B cells from peripheral blood	blood
28	chr12:121148000-121148800	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr12:121148000-121148800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr12:121148000-121148800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr12:121148000-121148800	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr12:121148000-121148800	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr12:121148000-121148800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:121148000-121148800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:121148000-121148800	Active TSS	Brain Hippocampus Middle	brain
36	chr12:121148000-121148800	Active TSS	Fetal Brain Male	brain
37	chr12:121148000-121148800	Active TSS	Fetal Brain Female	brain
38	chr12:121148000-121148800	Active TSS	Fetal Muscle Leg	muscle
39	chr12:121148000-121148800	Active TSS	Placenta	Placenta
40	chr12:121148000-121148800	Active TSS	Fetal Thymus	thymus
41	chr12:121148000-121148800	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr12:121148000-121148800	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr12:121148000-121148800	Active TSS	Stomach Smooth Muscle	stomach
44	chr12:121148000-121148800	Active TSS	HUVEC	blood vessel
45	chr12:121148000-121149000	Active TSS	H1 Cell Line	embryonic stem cell
46	chr12:121148000-121149000	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr12:121148000-121149000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:121148000-121149000	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr12:121148000-121149000	Active TSS	Primary T cells from cord blood	blood
50	chr12:121148000-121149000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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