Variant report

Variant	rs555694248
Chromosome Location	chr14:71107833-71107834
allele	A/C
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	REST	chr14:71107678-71110030	H1-neurons	neurons:	n/a	chr14:71109567-71109577 chr14:71108389-71108402 chr14:71109918-71109931
2	STAT1	chr14:71107829-71108120	GM12878	blood:	n/a	n/a
3	MAX	chr14:71107792-71108628	Hela-S3	cervix:	n/a	chr14:71108554-71108564
4	CTCF	chr14:71107700-71107850	HepG2	liver:	n/a	n/a
5	CTCF	chr14:71107740-71107890	GM12870	blood:	n/a	n/a
6	POLR2A	chr14:71107764-71108910	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr14:71107408-71111056	GM12878	blood:	n/a	n/a
8	CTCF	chr14:71107635-71108059	GM19238	blood:	n/a	n/a
9	STAT5A	chr14:71107490-71108595	GM12878	blood:	n/a	n/a
10	MAX	chr14:71107599-71108732	MCF-7	breast:	n/a	chr14:71108554-71108564
11	USF2	chr14:71107832-71107990	H1-hESC	embryonic stem cell:	n/a	n/a
12	WRNIP1	chr14:71107235-71108216	GM12878	blood:	n/a	n/a
13	POLR2A	chr14:71107519-71111057	GM19099	blood:	n/a	n/a
14	STAT5A	chr14:71107600-71108143	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:71107463-71108449	GM12892	blood:	n/a	n/a
16	POLR2A	chr14:71107559-71110560	GM18505	blood:	n/a	n/a
17	CTCF	chr14:71107700-71107850	GM12871	blood:	n/a	n/a
18	POLR2A	chr14:71107553-71109837	GM12892	blood:	n/a	n/a
19	BCLAF1	chr14:71107473-71108266	GM12878	blood:	n/a	n/a
20	POLR2A	chr14:71107780-71108327	GM12878	blood:	n/a	n/a
21	TCF12	chr14:71107547-71108151	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:71107578-71110550	GM18526	blood:	n/a	n/a
23	USF2	chr14:71107656-71108103	GM12878	blood:	n/a	n/a
24	POLR2A	chr14:71107586-71110556	GM18951	blood:	n/a	n/a
25	EP300	chr14:71107832-71108099	GM12878	blood:	n/a	n/a
26	RAD21	chr14:71107613-71108156	GM12878	blood:	n/a	n/a
27	MAZ	chr14:71107587-71108741	GM12878	blood:	n/a	chr14:71108554-71108564
28	ZNF263	chr14:71107628-71109987	HEK293-T-REx	kidney:	n/a	n/a
29	TCF12	chr14:71107649-71108394	A549	lung:	n/a	chr14:71108228-71108235
30	TCF7L2	chr14:71107665-71109225	HCT-116	colon:	n/a	n/a
31	RUNX3	chr14:71107559-71108607	GM12878	blood:	n/a	n/a
32	POLR2A	chr14:71107571-71110585	GM15510	blood:	n/a	n/a
33	MAX	chr14:71107731-71108579	ECC-1	luminal epithelium:	n/a	chr14:71108554-71108564
34	RCOR1	chr14:71107824-71108295	Hela-S3	cervix:	n/a	n/a
35	MTA3	chr14:71107387-71108680	GM12878	blood:	n/a	n/a
36	CTCF	chr14:71107760-71107910	GM12867	blood:	n/a	n/a
37	ELF1	chr14:71107572-71109827	GM12878	blood:	n/a	chr14:71108549-71108561 chr14:71109566-71109578 chr14:71108276-71108285
38	POLR2A	chr14:71107718-71108919	H1-neurons	neurons:	n/a	n/a
39	YY1	chr14:71107609-71108229	GM12878	blood:	n/a	n/a
40	ZEB1	chr14:71107451-71108716	GM12878	blood:	n/a	n/a
41	PBX3	chr14:71107810-71108085	GM12878	blood:	n/a	n/a
42	MAX	chr14:71107651-71108324	GM12878	blood:	n/a	n/a
43	NRF1	chr14:71107485-71108398	GM12878	blood:	n/a	chr14:71108204-71108215 chr14:71108201-71108215
44	POLR2A	chr14:71107586-71109748	GM12878	blood:	n/a	n/a
45	POLR2A	chr14:71107674-71109781	GM10847	blood:	n/a	n/a
46	RELA	chr14:71107489-71108351	GM19099	blood:	n/a	n/a
47	ATF2	chr14:71107518-71108251	GM12878	blood:	n/a	n/a
48	RUNX3	chr14:71107376-71108384	GM12878	blood:	n/a	n/a
49	EP300	chr14:71107741-71108201	GM12878	blood:	n/a	n/a
50	FOXM1	chr14:71107608-71108187	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:71106760..71110006-chr14:71274602..71279359,4	MCF-7	breast:
2	chr14:71107053..71109506-chr14:71274783..71276528,2	MCF-7	breast:
3	chr14:71107179..71108861-chr14:71164830..71167487,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MED6-1	chr14:71107725-71108015	ENSG00000245466

Variant related genes	Relation type
TTC9	TF binding region
ENSG00000258689	Chromatin interaction
ENSG00000006432	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71107000-71108000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr14:71107000-71108000	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr14:71107000-71108000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr14:71107000-71108000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr14:71107200-71108000	Flanking Active TSS	Primary B cells from peripheral blood	blood
6	chr14:71107200-71108000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr14:71107200-71108000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr14:71107200-71108000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr14:71107200-71108200	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr14:71107200-71108200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr14:71107200-71108400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr14:71107200-71110200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr14:71107200-71111200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:71107200-71111400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr14:71107400-71108000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr14:71107400-71108000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:71107400-71108000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:71107400-71108000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:71107400-71108200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:71107400-71108200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr14:71107400-71108200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:71107400-71108200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:71107400-71108200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
24	chr14:71107400-71108200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr14:71107400-71108200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr14:71107400-71108200	Flanking Active TSS	Thymus	Thymus
27	chr14:71107400-71108200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
28	chr14:71107400-71109000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:71107400-71110000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr14:71107400-71110200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:71107400-71110200	Active TSS	Psoas Muscle	Psoas
32	chr14:71107600-71108000	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:71107600-71108000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr14:71107600-71108000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
35	chr14:71107600-71108000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:71107600-71108000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
37	chr14:71107600-71108000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:71107600-71108000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr14:71107600-71108000	Flanking Bivalent TSS/Enh	Liver	Liver
40	chr14:71107600-71108000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
41	chr14:71107600-71108000	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr14:71107600-71108000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr14:71107600-71108000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
44	chr14:71107600-71108000	Flanking Active TSS	Fetal Brain Female	brain
45	chr14:71107600-71108000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr14:71107600-71108000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr14:71107600-71108000	Flanking Active TSS	Gastric	stomach
48	chr14:71107600-71108000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
49	chr14:71107600-71108000	Flanking Bivalent TSS/Enh	A549	lung
50	chr14:71107600-71108000	Bivalent Enhancer	HUVEC	blood vessel

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