Variant report

Variant	rs545354683
Chromosome Location	chr14:71107298-71107299
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	WRNIP1	chr14:71107235-71108216	GM12878	blood:	n/a	n/a
2	MAFK	chr14:71107180-71107378	H1-hESC	embryonic stem cell:	n/a	chr14:71107270-71107285
3	SIN3A	chr14:71107108-71110474	H1-hESC	embryonic stem cell:	n/a	chr14:71109567-71109576
4	MAFK	chr14:71107186-71107321	HepG2	liver:	n/a	chr14:71107270-71107285
5	POLR2A	chr14:71107131-71110993	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:71106760..71110006-chr14:71274602..71279359,4	MCF-7	breast:
2	chr14:71105872..71107697-chr14:71129081..71131202,2	MCF-7	breast:
3	chr14:71105308..71107393-chr14:71276714..71279710,2	MCF-7	breast:
4	chr14:71107053..71109506-chr14:71274783..71276528,2	MCF-7	breast:
5	chr14:71107179..71108861-chr14:71164830..71167487,3	MCF-7	breast:

Variant related genes	Relation type
TTC9	TF binding region
ENSG00000258689	Chromatin interaction
ENSG00000259153	Chromatin interaction
ENSG00000006432	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3409289	chr14:71107224-71110172	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71092200-71107600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:71092200-71107600	Weak transcription	HSMM	muscle
3	chr14:71102000-71107400	Weak transcription	Fetal Brain Female	brain
4	chr14:71103000-71107600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:71106200-71107400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:71106200-71107600	Active TSS	Esophagus	oesophagus
7	chr14:71106600-71107400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr14:71106800-71107400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:71106800-71107800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
10	chr14:71107000-71107400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:71107000-71107400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:71107000-71107400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr14:71107000-71107400	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr14:71107000-71107600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:71107000-71107600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr14:71107000-71107600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr14:71107000-71107600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr14:71107000-71107800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr14:71107000-71108000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr14:71107000-71108000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr14:71107000-71108000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr14:71107000-71108000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr14:71107200-71107400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr14:71107200-71107400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
25	chr14:71107200-71107400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr14:71107200-71107400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:71107200-71107400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:71107200-71107400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:71107200-71107400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
30	chr14:71107200-71107400	Active TSS	Thymus	Thymus
31	chr14:71107200-71107400	Active TSS	HSMMtube	muscle
32	chr14:71107200-71107400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr14:71107200-71107600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr14:71107200-71107600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr14:71107200-71107600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:71107200-71107600	Bivalent Enhancer	Fetal Thymus	thymus
37	chr14:71107200-71107800	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr14:71107200-71107800	Enhancers	Spleen	Spleen
39	chr14:71107200-71107800	Flanking Active TSS	GM12878-XiMat	blood
40	chr14:71107200-71108000	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr14:71107200-71108000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr14:71107200-71108000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr14:71107200-71108000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr14:71107200-71108200	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr14:71107200-71108200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr14:71107200-71108400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr14:71107200-71110200	Active TSS	H1 Cell Line	embryonic stem cell
48	chr14:71107200-71111200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:71107200-71111400	Active TSS	H9 Cell Line	embryonic stem cell

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