Variant report

Variant	rs536797795
Chromosome Location	chr12:104300146-104300147
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr12:104299575-104300209	GM12878	blood:	n/a	n/a
2	CREB1	chr12:104299599-104300275	GM12878	blood:	n/a	n/a
3	RUNX3	chr12:104299591-104300220	GM12878	blood:	n/a	n/a
4	NFIC	chr12:104299650-104300496	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104298405..104301396-chr12:104359031..104361017,2	K562	blood:
2	chr12:104299931..104303136-chr12:104307150..104309681,4	K562	blood:
3	chr12:104298858..104303101-chr12:104321689..104325332,4	K562	blood:
4	chr12:104300054..104301588-chr12:104323832..104325388,2	K562	blood:

No data

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

No data

Chromatin state (count:21 , 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	chr12:104299600-104300400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:104299600-104300600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:104299600-104300600	Enhancers	HMEC	breast
10	chr12:104299600-104300800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:104299600-104301400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:104299600-104301600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:104299600-104302000	Enhancers	NHEK	skin
14	chr12:104299600-104302600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:104299800-104300600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:104299800-104301600	Enhancers	Primary T cells from cord blood	blood
17	chr12:104299800-104301800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr12:104299800-104303000	Enhancers	Fetal Thymus	thymus
19	chr12:104300000-104300800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr12:104300000-104300800	Enhancers	GM12878-XiMat	blood
21	chr12:104300000-104301000	Enhancers	Primary T cells fromperipheralblood	blood

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