Variant report

Variant	rs377755554
Chromosome Location	chr12:104300854-104300855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000265072	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000204954	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:22 , 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	chr12:104300000-104301000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:104300400-104302000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:104300600-104301000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:104300600-104301400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:104300600-104301400	Weak transcription	HMEC	breast
19	chr12:104300600-104302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:104300800-104301000	Weak transcription	GM12878-XiMat	blood
21	chr12:104300800-104301200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:104300800-104301200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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