Variant report

Variant	rs547340351
Chromosome Location	chr12:49933078-49933079
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	MAX	chr12:49931839-49933116	ECC-1	luminal epithelium:	n/a	chr12:49932763-49932772 chr12:49932471-49932480
2	ZBTB7A	chr12:49932728-49933147	K562	blood:	n/a	n/a
3	MAZ	chr12:49932492-49933675	IMR90	lung:	n/a	chr12:49932763-49932772
4	ZBTB7A	chr12:49931664-49933557	ECC-1	luminal epithelium:	n/a	n/a
5	ZBTB7A	chr12:49931715-49933141	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr12:49931520-49933106	A549	lung:	n/a	chr12:49932763-49932772 chr12:49932471-49932480
7	ELF1	chr12:49933027-49933277	K562	blood:	n/a	n/a
8	CCNT2	chr12:49932823-49933078	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49930852..49937653-chr12:49953841..49959391,7	K562	blood:
2	chr12:49657477..49660356-chr12:49930384..49933439,3	K562	blood:
3	chr12:49759353..49761548-chr12:49931777..49934189,4	K562	blood:
4	chr12:49759353..49762276-chr12:49930939..49933731,4	K562	blood:
5	chr12:49930865..49935032-chr12:49959689..49963246,5	K562	blood:
6	chr12:49931420..49936579-chr12:49960006..49963071,6	MCF-7	breast:
7	chr12:49657699..49660591-chr12:49932809..49935394,2	MCF-7	breast:

Variant related genes	Relation type
KCNH3	TF binding region
ENSG00000123352	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000187778	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1801776	chr12:49915354-49934565	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv899071	chr12:49927148-49955935	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3431223	chr12:49931235-49934833	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49931200-49933400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr12:49931200-49933400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr12:49931200-49935000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:49931400-49933200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:49931400-49933200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:49931400-49933400	Active TSS	Right Atrium	heart
7	chr12:49931600-49933200	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr12:49931600-49933800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:49931800-49934200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr12:49932200-49933200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr12:49932200-49933200	Bivalent/Poised TSS	Psoas Muscle	Psoas
12	chr12:49932200-49933200	Bivalent/Poised TSS	NHLF	lung
13	chr12:49932200-49933400	Active TSS	Gastric	stomach
14	chr12:49932200-49933600	Active TSS	Brain Angular Gyrus	brain
15	chr12:49932200-49933600	Active TSS	A549	lung
16	chr12:49932400-49933200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr12:49932400-49933200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:49932400-49933200	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:49932400-49933200	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
20	chr12:49932400-49933200	Active TSS	Primary T cells from cord blood	blood
21	chr12:49932400-49933200	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
22	chr12:49932400-49933200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr12:49932400-49933200	Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr12:49932400-49933200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:49932400-49933200	Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr12:49932400-49933200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr12:49932400-49933200	Bivalent/Poised TSS	Colonic Mucosa	Colon
28	chr12:49932400-49933200	Active TSS	Fetal Brain Female	brain
29	chr12:49932400-49933200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
30	chr12:49932400-49933400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:49932400-49933400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
32	chr12:49932400-49933400	Active TSS	Brain Hippocampus Middle	brain
33	chr12:49932400-49933400	Active TSS	Right Ventricle	heart
34	chr12:49932400-49933400	Bivalent/Poised TSS	HepG2	liver
35	chr12:49932400-49933600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:49932400-49933800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
37	chr12:49932400-49933800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
38	chr12:49932400-49933800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:49932400-49934000	Active TSS	Brain Anterior Caudate	brain
40	chr12:49932400-49934000	Active TSS	Brain Cingulate Gyrus	brain
41	chr12:49932400-49934000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:49932600-49933200	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:49932600-49933200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:49932600-49933200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:49932600-49933400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:49932800-49933200	Active TSS	Primary B cells from cord blood	blood
47	chr12:49932800-49933200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:49932800-49933200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:49932800-49933400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:49932800-49933400	Enhancers	Primary hematopoietic stem cells	blood

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