Variant report

Variant	rs547301926
Chromosome Location	chr12:104532861-104532862
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	E2F6	chr12:104531600-104532908	K562	blood:	n/a	n/a
2	POLR2A	chr12:104532722-104532862	K562	blood:	n/a	n/a
3	HCFC1	chr12:104530774-104533047	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr12:104530363-104533203	SK-N-SH	brain:	n/a	chr12:104532334-104532343
5	MAX	chr12:104531656-104532862	A549	lung:	n/a	n/a
6	REST	chr12:104530278-104533127	H1-neurons	neurons:	n/a	chr12:104532401-104532410 chr12:104531530-104531543 chr12:104531555-104531568 chr12:104532262-104532276 chr12:104532534-104532541 chr12:104532349-104532367 chr12:104532525-104532538 chr12:104532268-104532281 chr12:104531276-104531289
7	POLR2A	chr12:104530332-104533046	H1-hESC	embryonic stem cell:	n/a	n/a
8	RFX5	chr12:104531515-104533035	SK-N-SH	brain:	n/a	n/a
9	EP300	chr12:104529604-104533013	SK-N-SH	brain:	n/a	chr12:104530017-104530031 chr12:104531582-104531598 chr12:104532225-104532241
10	EP300	chr12:104531536-104532866	A549	lung:	n/a	chr12:104531582-104531598 chr12:104532225-104532241
11	MAX	chr12:104531536-104532929	A549	lung:	n/a	n/a
12	TCF12	chr12:104531662-104532990	A549	lung:	n/a	n/a
13	MAZ	chr12:104530379-104533038	IMR90	lung:	n/a	chr12:104531092-104531102
14	POLR2A	chr12:104532845-104532864	Gliobla	brain:	n/a	n/a
15	E2F6	chr12:104531813-104532896	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr12:104530816-104532875	HepG2	liver:	n/a	chr12:104531092-104531102
17	MYC	chr12:104531688-104532953	NB4	blood:	n/a	n/a
18	POLR2A	chr12:104531466-104532979	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104530782..104534411-chr12:104679881..104682289,3	K562	blood:
2	chr12:104456193..104459744-chr12:104529847..104533076,6	K562	blood:
3	chr12:104531440..104533678-chr17:57914653..57916695,2	MCF-7	breast:
4	chr12:104348297..104351124-chr12:104530392..104533056,3	MCF-7	breast:
5	chr12:104529986..104533486-chr12:104678703..104682517,5	MCF-7	breast:
6	chr12:104510515..104519727-chr12:104525085..104533754,15	MCF-7	breast:
7	chr12:104234047..104236214-chr12:104531313..104532962,2	MCF-7	breast:
8	chr12:104456335..104459744-chr12:104529847..104533076,5	K562	blood:
9	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
10	chr12:104530438..104533662-chr12:104564030..104567253,5	K562	blood:
11	chr12:104530514..104533012-chr12:104679009..104681675,2	K562	blood:
12	chr12:104490343..104492832-chr12:104530682..104533569,2	MCF-7	breast:
13	chr12:104530672..104533179-chr6:154830934..154833113,2	MCF-7	breast:
14	chr12:104532395..104534218-chr12:104535636..104537137,2	K562	blood:
15	chr12:104530429..104534144-chr12:104679811..104684673,6	MCF-7	breast:
16	chr12:104357850..104359549-chr12:104531019..104533949,2	K562	blood:

Variant related genes	Relation type
NFYB	TF binding region
ENSG00000257193	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000199415	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000153721	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823607	chr12:104506318-104549541	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
2	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
4	esv3378083	chr12:104530222-104533220	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
5	esv3356986	chr12:104530722-104533070	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
6	esv1822830	chr12:104531180-104535862	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
7	esv1851658	chr12:104531180-104535862	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
8	esv1836100	chr12:104531180-104558476	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
9	esv1836581	chr12:104531180-104558476	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
10	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104530200-104533200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:104530400-104533000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr12:104531200-104533000	Active TSS	Brain Angular Gyrus	brain
4	chr12:104532200-104533000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
5	chr12:104532200-104533000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr12:104532200-104533000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:104532200-104533000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:104532200-104533000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:104532200-104533000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr12:104532200-104533000	Flanking Active TSS	Fetal Stomach	stomach
11	chr12:104532200-104533000	Flanking Active TSS	Pancreas	Pancrea
12	chr12:104532200-104533000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr12:104532200-104533000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr12:104532200-104533000	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr12:104532200-104533000	Flanking Active TSS	K562	blood
16	chr12:104532200-104533000	Flanking Active TSS	NH-A	brain
17	chr12:104532200-104533200	Flanking Active TSS	Dnd41	blood
18	chr12:104532400-104533000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:104532400-104533000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:104532400-104533000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:104532400-104533000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:104532400-104533000	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr12:104532400-104533000	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr12:104532400-104533000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr12:104532400-104533000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:104532400-104533000	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr12:104532400-104533000	Enhancers	Fetal Heart	heart
28	chr12:104532400-104533000	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr12:104532400-104533000	Enhancers	Spleen	Spleen
30	chr12:104532400-104533000	Flanking Active TSS	A549	lung
31	chr12:104532600-104533000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:104532600-104533000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:104532600-104533000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:104532600-104533000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
35	chr12:104532600-104533000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr12:104532600-104533000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr12:104532600-104533000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:104532600-104533000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:104532600-104533000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:104532600-104533000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:104532600-104533000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:104532600-104533000	Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr12:104532600-104533000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr12:104532600-104533000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr12:104532600-104533000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:104532600-104533000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:104532600-104533000	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr12:104532600-104533000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr12:104532600-104533000	Flanking Active TSS	Fetal Kidney	kidney
50	chr12:104532600-104533000	Flanking Active TSS	Fetal Lung	lung

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