Variant report

Variant	rs145654758
Chromosome Location	chr14:71107470-71107471
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	chr14:71107408-71111056	GM12878	blood:	n/a	n/a
2	WRNIP1	chr14:71107235-71108216	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:71107463-71108449	GM12892	blood:	n/a	n/a
4	MTA3	chr14:71107387-71108680	GM12878	blood:	n/a	n/a
5	ZEB1	chr14:71107451-71108716	GM12878	blood:	n/a	n/a
6	RUNX3	chr14:71107376-71108384	GM12878	blood:	n/a	n/a
7	HDAC2	chr14:71107403-71108790	MCF-7	breast:	n/a	n/a
8	CHD1	chr14:71107405-71107760	GM12878	blood:	n/a	n/a
9	RCOR1	chr14:71107412-71108297	GM12878	blood:	n/a	n/a
10	ELF1	chr14:71107462-71108769	MCF-7	breast:	n/a	chr14:71108549-71108561 chr14:71108276-71108285
11	SIN3A	chr14:71107108-71110474	H1-hESC	embryonic stem cell:	n/a	chr14:71109567-71109576
12	POLR2A	chr14:71107432-71108511	GM12891	blood:	n/a	n/a
13	POLR2A	chr14:71107423-71110555	GM12892	blood:	n/a	n/a
14	RCOR1	chr14:71107446-71108254	IMR90	lung:	n/a	n/a
15	ELF1	chr14:71107409-71108806	GM12878	blood:	n/a	chr14:71108549-71108561 chr14:71108276-71108285
16	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	chr14:71107053..71109506-chr14:71274783..71276528,2	MCF-7	breast:
4	chr14:71107179..71108861-chr14:71164830..71167487,3	MCF-7	breast:

Variant related genes	Relation type
TTC9	TF binding region
ENSG00000006432	Chromatin interaction
ENSG00000258689	Chromatin interaction
ENSG00000259153	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:67 , 50 per page) page: 1 2

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	chr14:71103000-71107600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:71106200-71107600	Active TSS	Esophagus	oesophagus
5	chr14:71106800-71107800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
6	chr14:71107000-71107600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:71107000-71107600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr14:71107000-71107600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr14:71107000-71107600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr14:71107000-71107800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr14:71107000-71108000	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr14:71107000-71108000	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr14:71107000-71108000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr14:71107000-71108000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr14:71107200-71107600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr14:71107200-71107600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr14:71107200-71107600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:71107200-71107600	Bivalent Enhancer	Fetal Thymus	thymus
19	chr14:71107200-71107800	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr14:71107200-71107800	Enhancers	Spleen	Spleen
21	chr14:71107200-71107800	Flanking Active TSS	GM12878-XiMat	blood
22	chr14:71107200-71108000	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr14:71107200-71108000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr14:71107200-71108000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr14:71107200-71108000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr14:71107200-71108200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr14:71107200-71108200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr14:71107200-71108400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr14:71107200-71110200	Active TSS	H1 Cell Line	embryonic stem cell
30	chr14:71107200-71111200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:71107200-71111400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr14:71107400-71107600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:71107400-71107600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr14:71107400-71107600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr14:71107400-71107600	Enhancers	Brain Anterior Caudate	brain
36	chr14:71107400-71107600	Active TSS	Brain Germinal Matrix	brain
37	chr14:71107400-71107600	Bivalent Enhancer	Brain Hippocampus Middle	brain
38	chr14:71107400-71107600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr14:71107400-71107600	Active TSS	Fetal Brain Female	brain
40	chr14:71107400-71107600	Bivalent Enhancer	Fetal Intestine Small	intestine
41	chr14:71107400-71107600	Enhancers	Gastric	stomach
42	chr14:71107400-71107600	Enhancers	Pancreas	Pancrea
43	chr14:71107400-71107600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
44	chr14:71107400-71107600	Bivalent Enhancer	Stomach Mucosa	stomach
45	chr14:71107400-71107600	Bivalent Enhancer	A549	lung
46	chr14:71107400-71107600	Bivalent Enhancer	Dnd41	blood
47	chr14:71107400-71107800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:71107400-71107800	Enhancers	Fetal Brain Male	brain
49	chr14:71107400-71107800	Enhancers	HMEC	breast
50	chr14:71107400-71107800	Flanking Active TSS	HSMMtube	muscle

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