Variant report

Variant	rs566940330
Chromosome Location	chr12:104301164-104301165
allele	A/G
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	chr12:104301137-104302264	GM12891	blood:	n/a	n/a
2	POU2F2	chr12:104301115-104301910	GM12878	blood:	n/a	chr12:104301390-104301403 chr12:104301396-104301406 chr12:104301395-104301407 chr12:104301390-104301403 chr12:104301393-104301407 chr12:104301391-104301405 chr12:104301394-104301407 chr12:104301390-104301403 chr12:104301389-104301410 chr12:104301396-104301406 chr12:104301394-104301405 chr12:104301391-104301409 chr12:104301395-104301405
3	MAZ	chr12:104300931-104301511	IMR90	lung:	n/a	n/a
4	RUNX3	chr12:104301155-104301521	GM12878	blood:	n/a	n/a
5	RUNX3	chr12:104301135-104301811	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104300678..104303599-chr12:104319392..104323559,4	K562	blood:
2	chr12:104300942..104303237-chr12:104305354..104306983,2	K562	blood:
3	chr12:104298405..104301396-chr12:104359031..104361017,2	K562	blood:
4	chr12:104299931..104303136-chr12:104307150..104309681,4	K562	blood:
5	chr12:104301059..104305002-chr12:104308299..104311769,5	K562	blood:
6	chr12:104298858..104303101-chr12:104321689..104325332,4	K562	blood:
7	chr12:104300054..104301588-chr12:104323832..104325388,2	K562	blood:
8	chr12:104300652..104303185-chr12:104457889..104460360,2	K562	blood:

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000265072	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000166598	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3344053	chr12:104299847-104302395	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
3	esv3388506	chr12:104300622-104301720	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104295800-104303000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr12:104295800-104303200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:104295800-104303800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:104296000-104301400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:104299000-104301600	Weak transcription	Thymus	Thymus
6	chr12:104299400-104303000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:104299600-104301400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:104299600-104301600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:104299600-104302000	Enhancers	NHEK	skin
10	chr12:104299600-104302600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:104299800-104301600	Enhancers	Primary T cells from cord blood	blood
12	chr12:104299800-104301800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:104299800-104303000	Enhancers	Fetal Thymus	thymus
14	chr12:104300400-104302000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:104300600-104301400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:104300600-104301400	Weak transcription	HMEC	breast
17	chr12:104300600-104302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:104300800-104301200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:104300800-104301200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:104301000-104301200	Enhancers	GM12878-XiMat	blood
21	chr12:104301000-104301400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr12:104301000-104301600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:104301000-104303600	Weak transcription	Spleen	Spleen

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