Variant report

Variant	rs551417403
Chromosome Location	chr12:121148116-121148117
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	POLR2A	chr12:121147841-121148127	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr12:121147865-121148658	A549	lung:	n/a	n/a
3	MAZ	chr12:121147984-121148497	GM12878	blood:	n/a	n/a
4	ZNF143	chr12:121147976-121148479	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:121147974-121148494	GM12892	blood:	n/a	n/a
6	EGR1	chr12:121148014-121148491	ECC-1	luminal epithelium:	n/a	chr12:121148248-121148258 chr12:121148185-121148199 chr12:121148163-121148177
7	TAF1	chr12:121148026-121148494	A549	lung:	n/a	n/a
8	POLR2A	chr12:121148095-121148496	K562	blood:	n/a	n/a
9	PML	chr12:121148057-121148533	MCF-7	breast:	n/a	n/a
10	POLR2A	chr12:121147986-121149563	Raji	blood:	n/a	n/a
11	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
12	MAZ	chr12:121147647-121149194	IMR90	lung:	n/a	n/a
13	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
14	POLR2A	chr12:121147917-121148512	HEK293	kidney:	n/a	n/a
15	POLR2A	chr12:121147948-121149086	GM18951	blood:	n/a	n/a
16	MAX	chr12:121148037-121149151	K562	blood:	n/a	n/a
17	MAX	chr12:121147759-121148142	K562	blood:	n/a	n/a
18	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
19	POLR2A	chr12:121147677-121149001	MCF-7	breast:	n/a	n/a
20	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
21	POLR2A	chr12:121147875-121148587	H1-hESC	embryonic stem cell:	n/a	n/a
22	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
23	POLR2A	chr12:121147874-121148479	GM12878	blood:	n/a	n/a
24	MAZ	chr12:121147948-121149063	Hela-S3	cervix:	n/a	n/a
25	MAX	chr12:121147767-121148712	MCF-7	breast:	n/a	n/a
26	MAZ	chr12:121147986-121148418	HepG2	liver:	n/a	n/a
27	SP1	chr12:121147846-121148257	GM12878	blood:	n/a	chr12:121147868-121147880 chr12:121147868-121147879 chr12:121147868-121147880
28	MAX	chr12:121147697-121149313	A549	lung:	n/a	n/a
29	POLR2A	chr12:121148108-121148490	GM15510	blood:	n/a	n/a
30	TEAD4	chr12:121147775-121148182	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:121147971-121148656	IMR90	lung:	n/a	n/a
32	TAF1	chr12:121148088-121148421	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr12:121148084-121148558	K562	blood:	n/a	n/a
34	YY1	chr12:121147837-121148128	A549	lung:	n/a	n/a
35	EGR1	chr12:121148001-121148347	GM12878	blood:	n/a	chr12:121148248-121148258 chr12:121148185-121148199 chr12:121148163-121148177
36	POLR2A	chr12:121147987-121148680	Hela-S3	cervix:	n/a	n/a
37	YY1	chr12:121147747-121148138	K562	blood:	n/a	n/a
38	GTF2F1	chr12:121148004-121148118	H1-hESC	embryonic stem cell:	n/a	n/a
39	MXI1	chr12:121147348-121149831	SK-N-SH	brain:	n/a	n/a
40	MTA3	chr12:121147783-121148127	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:121147905-121148591	H1-neurons	neurons:	n/a	n/a
42	EGR1	chr12:121147837-121148425	K562	blood:	n/a	chr12:121148248-121148258 chr12:121148185-121148199 chr12:121148163-121148177
43	YY1	chr12:121148037-121148870	ECC-1	luminal epithelium:	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
44	POLR2A	chr12:121148105-121148499	GM18526	blood:	n/a	n/a
45	EGR1	chr12:121148043-121148469	ECC-1	luminal epithelium:	n/a	chr12:121148248-121148258 chr12:121148185-121148199 chr12:121148163-121148177
46	POLR2A	chr12:121147668-121149217	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr12:121147974-121149093	GM19193	blood:	n/a	n/a
48	REST	chr12:121147522-121148784	H1-neurons	neurons:	n/a	chr12:121148146-121148156
49	IRF1	chr12:121147899-121148286	K562	blood:	n/a	n/a
50	MXI1	chr12:121147607-121149626	IMR90	lung:	n/a	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	chr12:121136411..121138197-chr12:121145701..121148306,2	K562	blood:
5	chr12:121122969..121126872-chr12:121145365..121151601,10	K562	blood:
6	chr12:121122617..121126013-chr12:121146742..121149972,4	MCF-7	breast:
7	chr12:121123292..121126341-chr12:121146632..121149740,5	MCF-7	breast:

Variant related genes	Relation type
UNC119B	TF binding region
ENSG00000122971	Chromatin interaction
ENSG00000271769	Chromatin interaction
ENSG00000265455	Chromatin interaction
ENSG00000256364	Chromatin interaction
ENSG00000256569	Chromatin interaction
ENSG00000110917	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	chr12:121147400-121148200	Flanking Active TSS	Dnd41	blood
2	chr12:121147600-121148200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:121147600-121148200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr12:121147600-121148200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr12:121147600-121148200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:121147600-121148200	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr12:121147600-121148200	Flanking Active TSS	Fetal Muscle Trunk	muscle
8	chr12:121147600-121148200	Enhancers	Spleen	Spleen
9	chr12:121147600-121148400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:121147600-121149400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:121147800-121148200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:121147800-121148200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr12:121147800-121148200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:121147800-121148200	Flanking Active TSS	Liver	Liver
15	chr12:121147800-121148200	Flanking Active TSS	Colonic Mucosa	Colon
16	chr12:121147800-121148200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr12:121147800-121148200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr12:121147800-121148200	Flanking Active TSS	HMEC	breast
19	chr12:121147800-121148800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:121147800-121149000	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr12:121147800-121149000	Active TSS	Aorta	Aorta
22	chr12:121147800-121149000	Active TSS	Rectal Smooth Muscle	rectum
23	chr12:121147800-121149000	Active TSS	HSMMtube	muscle
24	chr12:121147800-121149200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:121147800-121149200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr12:121147800-121149200	Active TSS	Osteobl	bone
27	chr12:121147800-121149400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:121147800-121149600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr12:121147800-121149600	Active TSS	Fetal Kidney	kidney
30	chr12:121147800-121149600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr12:121148000-121148200	Active TSS	Brain Germinal Matrix	brain
32	chr12:121148000-121148200	Enhancers	Fetal Heart	heart
33	chr12:121148000-121148400	Active TSS	Primary B cells from cord blood	blood
34	chr12:121148000-121148400	Active TSS	Primary hematopoietic stem cells	blood
35	chr12:121148000-121148400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:121148000-121148600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:121148000-121148600	Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr12:121148000-121148600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:121148000-121148600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:121148000-121148600	Active TSS	Right Ventricle	heart
41	chr12:121148000-121148600	Active TSS	HepG2	liver
42	chr12:121148000-121148600	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr12:121148000-121148800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:121148000-121148800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:121148000-121148800	Active TSS	Primary B cells from peripheral blood	blood
46	chr12:121148000-121148800	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr12:121148000-121148800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr12:121148000-121148800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr12:121148000-121148800	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr12:121148000-121148800	Active TSS	Cortex derived primary cultured neurospheres	brain

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