Variant report

Variant	rs538416949
Chromosome Location	chr12:124246877-124246878
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	chr12:124246797-124247315	MCF-7	breast:	n/a	n/a
2	MYC	chr12:124246856-124246928	GM12878	blood:	n/a	chr12:124246915-124246922
3	MTA3	chr12:124246752-124247142	GM12878	blood:	n/a	n/a
4	SIN3A	chr12:124246456-124247060	GM12878	blood:	n/a	chr12:124246895-124246904
5	POLR2A	chr12:124245802-124247997	K562	blood:	n/a	n/a
6	EBF1	chr12:124246768-124247024	GM12878	blood:	n/a	n/a
7	YY1	chr12:124246660-124247008	GM12891	blood:	n/a	chr12:124246762-124246776 chr12:124246777-124246791 chr12:124246771-124246785 chr12:124246689-124246700
8	POLR2A	chr12:124246363-124246965	HUVEC	blood vessel:	n/a	n/a
9	NFATC1	chr12:124246043-124247035	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:124246856-124246984	Hela-S3	cervix:	n/a	n/a
11	PAX5	chr12:124246790-124247105	GM12891	blood:	n/a	n/a
12	NFATC1	chr12:124246137-124247075	GM12878	blood:	n/a	n/a
13	SIN3AK20	chr12:124246341-124247081	PANC-1	pancreas:	n/a	n/a
14	E2F6	chr12:124246711-124247443	H1-hESC	embryonic stem cell:	n/a	chr12:124247224-124247234 chr12:124246769-124246778 chr12:124247241-124247251
15	PAX5	chr12:124246379-124247146	GM12892	blood:	n/a	chr12:124246769-124246778
16	SPI1	chr12:124246800-124247234	HL-60	blood:	n/a	chr12:124247006-124247019
17	MAX	chr12:124246213-124247471	HepG2	liver:	n/a	chr12:124246832-124246841 chr12:124246915-124246922 chr12:124247235-124247242 chr12:124247234-124247243 chr12:124247196-124247206
18	YY1	chr12:124246337-124247139	GM12878	blood:	n/a	chr12:124246762-124246776 chr12:124246777-124246791 chr12:124246771-124246785 chr12:124246689-124246700
19	MXI1	chr12:124245970-124247083	GM12878	blood:	n/a	n/a
20	TCF7L2	chr12:124246814-124247372	PANC-1	pancreas:	n/a	n/a
21	CTCF	chr12:124246760-124246910	HUVEC	blood vessel:	n/a	n/a
22	SIN3A	chr12:124246344-124248011	H1-hESC	embryonic stem cell:	n/a	chr12:124247207-124247215 chr12:124246895-124246904
23	HDAC2	chr12:124246366-124247054	H1-hESC	embryonic stem cell:	n/a	chr12:124246949-124246968
24	SPI1	chr12:124246849-124247214	GM12891	blood:	n/a	chr12:124247006-124247019
25	PAX5	chr12:124246552-124247091	GM12891	blood:	n/a	chr12:124246769-124246778
26	RUNX3	chr12:124246718-124247214	GM12878	blood:	n/a	n/a
27	YY1	chr12:124246364-124247085	GM12892	blood:	n/a	chr12:124246762-124246776 chr12:124246777-124246791 chr12:124246771-124246785 chr12:124246689-124246700
28	BCL3	chr12:124246296-124247346	GM12878	blood:	n/a	chr12:124246703-124246716
29	YY1	chr12:124246299-124247256	GM12891	blood:	n/a	chr12:124246762-124246776 chr12:124246777-124246791 chr12:124246771-124246785 chr12:124247156-124247170 chr12:124246689-124246700
30	POLR2A	chr12:124246755-124247180	GM12891	blood:	n/a	n/a
31	SIN3AK20	chr12:124246392-124247124	H1-hESC	embryonic stem cell:	n/a	n/a
32	BCLAF1	chr12:124246261-124247146	GM12878	blood:	n/a	chr12:124246703-124246716
33	ZEB1	chr12:124246776-124247041	GM12878	blood:	n/a	n/a
34	POLR2A	chr12:124246791-124247071	H1-hESC	embryonic stem cell:	n/a	n/a
35	YY1	chr12:124246358-124247044	HepG2	liver:	n/a	chr12:124246762-124246776 chr12:124246777-124246791 chr12:124246771-124246785 chr12:124246689-124246700
36	POLR2A	chr12:124246142-124247226	H1-hESC	embryonic stem cell:	n/a	n/a
37	STAT5A	chr12:124246098-124247401	GM12878	blood:	n/a	chr12:124247114-124247126
38	YY1	chr12:124246780-124247037	K562	blood:	n/a	n/a
39	PML	chr12:124246122-124247253	GM12878	blood:	n/a	chr12:124246149-124246158
40	YY1	chr12:124246693-124247077	GM12892	blood:	n/a	chr12:124246762-124246776 chr12:124246777-124246791 chr12:124246771-124246785
41	POLR2A	chr12:124246288-124247118	HL-60	blood:	n/a	n/a
42	MAX	chr12:124246273-124247400	HepG2	liver:	n/a	chr12:124246832-124246841 chr12:124246915-124246922 chr12:124247235-124247242 chr12:124247234-124247243 chr12:124247196-124247206
43	POLR2A	chr12:124246317-124246878	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr12:124246297-124247183	GM12878	blood:	n/a	n/a
45	MAZ	chr12:124246375-124247075	GM12878	blood:	n/a	chr12:124246832-124246841 chr12:124246915-124246922
46	SPI1	chr12:124246828-124247173	GM12878	blood:	n/a	chr12:124247006-124247019
47	MAX	chr12:124246214-124247639	H1-hESC	embryonic stem cell:	n/a	chr12:124246832-124246841 chr12:124246915-124246922 chr12:124247235-124247242 chr12:124247234-124247243 chr12:124247196-124247206
48	YY1	chr12:124246438-124247091	H1-hESC	embryonic stem cell:	n/a	chr12:124246762-124246776 chr12:124246777-124246791 chr12:124246771-124246785 chr12:124246689-124246700
49	CTBP2	chr12:124246409-124247336	H1-hESC	embryonic stem cell:	n/a	n/a
50	MXI1	chr12:124246372-124247590	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124238409..124242727-chr12:124245328..124248805,4	MCF-7	breast:
2	chr12:124239074..124241226-chr12:124246281..124247802,2	K562	blood:

Variant related genes	Relation type
DNAH10	TF binding region
ENSG00000185344	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv3389445	chr12:124245999-124247847	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124201800-124247800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:124203800-124248000	Strong transcription	Dnd41	blood
3	chr12:124234200-124247400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:124239800-124247200	Weak transcription	HSMM	muscle
5	chr12:124239800-124249400	Weak transcription	Brain Substantia Nigra	brain
6	chr12:124239800-124252000	Weak transcription	K562	blood
7	chr12:124244800-124254800	Weak transcription	HSMMtube	muscle
8	chr12:124245800-124247800	Bivalent Enhancer	Fetal Brain Male	brain
9	chr12:124245800-124248000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:124246000-124247200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:124246000-124247400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:124246000-124247600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr12:124246000-124247600	Active TSS	Rectal Smooth Muscle	rectum
14	chr12:124246200-124247000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr12:124246200-124247000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:124246200-124247000	Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr12:124246200-124247000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:124246200-124247000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:124246200-124247000	Active TSS	Brain Hippocampus Middle	brain
20	chr12:124246200-124247000	Bivalent/Poised TSS	Fetal Lung	lung
21	chr12:124246200-124247000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr12:124246200-124247000	Active TSS	Thymus	Thymus
23	chr12:124246200-124247000	Active TSS	NH-A	brain
24	chr12:124246200-124247000	Active TSS	NHLF	lung
25	chr12:124246200-124247000	Active TSS	Osteobl	bone
26	chr12:124246200-124247200	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr12:124246200-124247200	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr12:124246200-124247200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr12:124246200-124247200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:124246200-124247400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:124246200-124247400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:124246200-124247600	Active TSS	Fetal Kidney	kidney
33	chr12:124246200-124247800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr12:124246200-124247800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr12:124246200-124248200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr12:124246400-124247000	Active TSS	Primary monocytes fromperipheralblood	blood
37	chr12:124246400-124247000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr12:124246400-124247000	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr12:124246400-124247000	Active TSS	Duodenum Mucosa	Duodenum
40	chr12:124246400-124247000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
41	chr12:124246400-124247000	Flanking Active TSS	Lung	lung
42	chr12:124246400-124247000	Active TSS	Placenta Amnion	Placenta Amnion
43	chr12:124246400-124247000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
44	chr12:124246400-124247200	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr12:124246400-124247200	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr12:124246400-124247200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:124246400-124247200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:124246400-124247200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:124246400-124247200	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr12:124246400-124247200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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