Variant report

Variant	rs566453272
Chromosome Location	chr12:1740199-1740200
allele	A/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	SUZ12	chr12:1739328-1740832	NT2-D1	testis:	n/a	n/a
2	MAX	chr12:1739518-1740284	H1-hESC	embryonic stem cell:	n/a	chr12:1740060-1740069 chr12:1740059-1740066 chr12:1740058-1740067 chr12:1739601-1739611
3	MXI1	chr12:1740184-1740798	IMR90	lung:	n/a	n/a
4	EP300	chr12:1737662-1740910	SK-N-SH	brain:	n/a	chr12:1740199-1740213 chr12:1739522-1739538 chr12:1739309-1739318
5	SUZ12	chr12:1739514-1740733	H1-hESC	embryonic stem cell:	n/a	n/a
6	RUNX3	chr12:1740087-1740374	GM12878	blood:	n/a	chr12:1740210-1740219 chr12:1740210-1740219
7	CTCF	chr12:1740060-1740210	BJ	skin:	n/a	n/a
8	RUNX3	chr12:1740039-1740292	GM12878	blood:	n/a	chr12:1740210-1740219 chr12:1740210-1740219
9	SIN3A	chr12:1739038-1740735	H1-hESC	embryonic stem cell:	n/a	chr12:1739716-1739729

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1703157..1705505-chr12:1739226..1741204,2	MCF-7	breast:

Variant related genes	Relation type
WNT5B	TF binding region
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv898587	chr12:1732295-1756642	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv898588	chr12:1736314-1755960	Bivalent Enhancer Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv556994	chr12:1737309-1743843	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv898589	chr12:1738111-1755654	Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv898590	chr12:1740171-1757743	Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1733000-1744000	Weak transcription	K562	blood
2	chr12:1737600-1740600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:1737800-1740400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr12:1737800-1740600	Enhancers	Spleen	Spleen
5	chr12:1737800-1740800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr12:1737800-1740800	Bivalent Enhancer	Fetal Lung	lung
7	chr12:1738200-1740200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
8	chr12:1738200-1740400	Active TSS	Rectal Smooth Muscle	rectum
9	chr12:1738400-1740400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:1738400-1740600	Enhancers	Lung	lung
11	chr12:1738600-1740200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr12:1738600-1740200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr12:1738600-1740200	Flanking Active TSS	Right Ventricle	heart
14	chr12:1738600-1740400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr12:1738600-1740600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:1738600-1740600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:1738600-1740600	Active TSS	Colon Smooth Muscle	Colon
18	chr12:1738600-1740800	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr12:1738800-1740200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:1738800-1740400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
21	chr12:1738800-1740400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:1738800-1740400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr12:1738800-1740600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
24	chr12:1738800-1740600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:1738800-1740600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
26	chr12:1739000-1740200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:1739000-1740200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
28	chr12:1739000-1740400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:1739000-1740400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
30	chr12:1739000-1740600	Bivalent/Poised TSS	Thymus	Thymus
31	chr12:1739200-1740200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:1739400-1740200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:1739400-1740600	Bivalent Enhancer	Fetal Thymus	thymus
34	chr12:1739600-1740200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:1739600-1740200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
36	chr12:1739600-1740200	Flanking Active TSS	GM12878-XiMat	blood
37	chr12:1739600-1740200	Flanking Active TSS	NHDF-Ad	bronchial
38	chr12:1739600-1740400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
39	chr12:1739600-1740600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr12:1739600-1740600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:1739600-1740600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:1739600-1740600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
43	chr12:1739600-1740600	Bivalent Enhancer	HepG2	liver
44	chr12:1739800-1740200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr12:1739800-1740200	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr12:1739800-1740200	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr12:1739800-1740200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr12:1739800-1740200	Flanking Active TSS	Fetal Brain Female	brain
49	chr12:1739800-1740200	Enhancers	NHLF	lung
50	chr12:1739800-1740400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood

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