Variant report

Variant	rs536947134
Chromosome Location	chr12:124390142-124390143
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:189)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:189 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr12:124389874-124390272	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr12:124389816-124390178	H1-hESC	embryonic stem cell:	n/a	chr12:124389984-124389995
3	CTCF	chr12:124389844-124390262	K562	blood:	n/a	n/a
4	CTCF	chr12:124389719-124390578	A549	lung:	n/a	n/a
5	CEBPB	chr12:124389821-124390187	HepG2	liver:	n/a	chr12:124389984-124389995
6	CTCF	chr12:124390000-124390150	HPAF	blood vessel:	n/a	n/a
7	CTCF	chr12:124390020-124390170	GM12865	blood:	n/a	n/a
8	CTCF	chr12:124390000-124390150	AG10803	skin:	n/a	n/a
9	CTCF	chr12:124390000-124390150	HFF	foreskin:	n/a	n/a
10	USF1	chr12:124389983-124390187	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr12:124389915-124390243	A549	lung:	n/a	n/a
12	STAT3	chr12:124389935-124390175	MCF10A-Er-Src	breast:	n/a	n/a
13	CTCF	chr12:124390000-124390150	HUVEC	blood vessel:	n/a	n/a
14	RAD21	chr12:124389901-124390253	GM12878	blood:	n/a	n/a
15	POU2F2	chr12:124389982-124390203	GM12878	blood:	n/a	n/a
16	JUND	chr12:124389720-124390384	HCT-116	colon:	n/a	n/a
17	CTCF	chr12:124389928-124390174	NHEK	skin:	n/a	n/a
18	CTCF	chr12:124390000-124390150	SAEC	small airway:	n/a	n/a
19	RAD21	chr12:124389812-124390306	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr12:124389851-124390298	A549	lung:	n/a	n/a
21	CTCF	chr12:124390000-124390150	HVMF	connective:	n/a	n/a
22	CTCF	chr12:124390000-124390150	RPTEC	kidney:	n/a	n/a
23	CTCF	chr12:124390020-124390170	GM06990	blood:	n/a	n/a
24	MAX	chr12:124389816-124390237	NB4	blood:	n/a	chr12:124390084-124390094
25	CTCF	chr12:124390060-124390210	GM12869	blood:	n/a	n/a
26	CTCF	chr12:124389928-124390226	Medullo	brain:	n/a	n/a
27	JUND	chr12:124389905-124390270	K562	blood:	n/a	n/a
28	CTCF	chr12:124389940-124390205	Lung_OC	lung:	n/a	n/a
29	CTCF	chr12:124390000-124390150	GM12864	blood:	n/a	n/a
30	CTCF	chr12:124389966-124390184	ECC-1	luminal epithelium:	n/a	n/a
31	CTCF	chr12:124390000-124390150	HRPEpiC	eye:	n/a	n/a
32	JUND	chr12:124389937-124390187	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr12:124390040-124390190	SAEC	small airway:	n/a	n/a
34	USF1	chr12:124389975-124390144	A549	lung:	n/a	n/a
35	CTCF	chr12:124389959-124390216	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr12:124389934-124390221	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chr12:124390040-124390190	GM12873	blood:	n/a	n/a
38	CTCF	chr12:124390000-124390150	HCPEpiC	choroid plexus:	n/a	n/a
39	FOS	chr12:124389794-124390257	MCF10A-Er-Src	breast:	n/a	n/a
40	CTCF	chr12:124390000-124390150	GM12872	blood:	n/a	n/a
41	CTCF	chr12:124389824-124390402	HCT-116	colon:	n/a	n/a
42	RFX5	chr12:124389788-124390274	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr12:124390000-124390150	NB4	blood:	n/a	n/a
44	RAD21	chr12:124389822-124390404	HCT-116	colon:	n/a	n/a
45	CEBPB	chr12:124389816-124390173	A549	lung:	n/a	chr12:124389984-124389995
46	CTCF	chr12:124390020-124390170	GM12871	blood:	n/a	n/a
47	MYC	chr12:124389899-124390211	NB4	blood:	n/a	chr12:124390084-124390094
48	CTCF	chr12:124389897-124390219	A549	lung:	n/a	n/a
49	CTCF	chr12:124389975-124390168	GM13976	blood:	n/a	n/a
50	TEAD4	chr12:124389891-124390262	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124389950..124393053-chr12:124455413..124457949,3	MCF-7	breast:
2	chr12:124389600..124390517-chr12:124516534..124517510,2	K562	blood:
3	chr12:124295197..124298095-chr12:124388889..124391568,2	MCF-7	breast:
4	chr12:124389629..124391597-chr12:124394347..124396284,2	K562	blood:

No data

Variant related genes	Relation type
DNAH10	TF binding region
ENSG00000270095	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000178882	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv1811815	chr12:124374716-124424636	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1832870	chr12:124374716-124424636	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv522321	chr12:124383950-124424636	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv560499	chr12:124389150-124396816	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124382000-124391400	Weak transcription	Fetal Lung	lung
2	chr12:124384000-124408400	Weak transcription	Fetal Brain Female	brain
3	chr12:124385400-124390200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:124386000-124391400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:124386000-124395800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:124386200-124390800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:124386200-124392000	Weak transcription	NH-A	brain
8	chr12:124386200-124392200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:124386200-124394000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:124386800-124391800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:124387200-124392000	Weak transcription	Fetal Thymus	thymus
12	chr12:124388400-124391800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:124389600-124390400	Enhancers	Fetal Intestine Small	intestine
14	chr12:124389800-124390400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:124389800-124390400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:124389800-124390400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:124389800-124390400	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:124389800-124390400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr12:124389800-124390400	Enhancers	NHDF-Ad	bronchial
20	chr12:124390000-124390200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:124390000-124390200	Enhancers	Fetal Kidney	kidney
22	chr12:124390000-124390600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:124390000-124392200	Weak transcription	Brain Hippocampus Middle	brain

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