Variant report

Variant	rs45526332
Chromosome Location	chr14:65006583-65006584
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	chr14:65006541-65007810	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:65005906-65007370	Hela-S3	cervix:	n/a	n/a
3	HA-E2F1	chr14:65005879-65007597	MCF-7	breast:	n/a	chr14:65006336-65006347 chr14:65006340-65006347 chr14:65006340-65006347 chr14:65006336-65006348 chr14:65006340-65006347
4	SMARCB1	chr14:65006135-65007636	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr14:65006515-65007715	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr14:65005926-65007512	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr14:65005875-65007822	MCF-7	breast:	n/a	n/a
8	TCF12	chr14:65005596-65008103	A549	lung:	n/a	chr14:65006321-65006331 chr14:65007152-65007159
9	TAF1	chr14:65006490-65007714	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:65006540-65007222	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr14:65006539-65006828	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:65006521-65007737	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr14:65006420-65007847	GM12892	blood:	n/a	n/a
14	POLR2A	chr14:65006565-65006705	A549	lung:	n/a	n/a
15	MAX	chr14:65005947-65006672	MCF-7	breast:	n/a	n/a
16	GABPA	chr14:65005634-65007527	MCF-7	breast:	n/a	chr14:65007445-65007454 chr14:65006378-65006387
17	ELF1	chr14:65006533-65009416	MCF-7	breast:	n/a	chr14:65007278-65007290
18	POLR2A	chr14:65006017-65008275	MCF-7	breast:	n/a	n/a
19	MAX	chr14:65006531-65007752	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr14:65006539-65007738	SK-N-SH	brain:	n/a	n/a
21	E2F6	chr14:65006548-65007925	H1-hESC	embryonic stem cell:	n/a	n/a
22	SP1	chr14:65006483-65007939	A549	lung:	n/a	chr14:65007289-65007301 chr14:65007290-65007299 chr14:65007289-65007301 chr14:65007075-65007096
23	POLR2A	chr14:65006553-65007697	Raji	blood:	n/a	n/a
24	POLR2A	chr14:65005904-65007803	HUVEC	blood vessel:	n/a	n/a
25	SETDB1	chr14:65005944-65006737	U2OS	brain:	n/a	n/a
26	POLR2A	chr14:65006521-65007814	A549	lung:	n/a	n/a
27	POLR2A	chr14:65006571-65006804	A549	lung:	n/a	n/a
28	SIX5	chr14:65006558-65007997	A549	lung:	n/a	n/a
29	MAX	chr14:65006543-65008040	MCF-7	breast:	n/a	n/a
30	POLR2A	chr14:65005728-65008037	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr14:65006557-65007781	SK-N-SH	brain:	n/a	n/a
32	TAF1	chr14:65006582-65007849	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr14:65005823-65007195	Hela-S3	cervix:	n/a	n/a
34	PML	chr14:65006583-65007665	MCF-7	breast:	n/a	n/a
35	MAX	chr14:65006549-65007648	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr14:65006167-65007901	H1-hESC	embryonic stem cell:	n/a	n/a
37	SMC3	chr14:65006509-65007762	SK-N-SH	brain:	n/a	chr14:65007192-65007202 chr14:65007188-65007202
38	POLR2A	chr14:65006168-65007695	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr14:65006101-65007878	PBDE	blood:	n/a	n/a
40	TBP	chr14:65006024-65007739	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr14:65006560-65007944	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr14:65005839-65007677	Hela-S3	cervix:	n/a	n/a
43	E2F6	chr14:65005922-65008233	H1-hESC	embryonic stem cell:	n/a	chr14:65006340-65006347 chr14:65006340-65006347 chr14:65006336-65006348 chr14:65006340-65006347
44	E2F6	chr14:65006008-65008058	A549	lung:	n/a	chr14:65006340-65006347 chr14:65006340-65006347 chr14:65006336-65006348 chr14:65006340-65006347
45	POLR2A	chr14:65006525-65007219	Hela-S3	cervix:	n/a	n/a
46	TCF12	chr14:65006574-65007618	ECC-1	luminal epithelium:	n/a	chr14:65007152-65007159
47	MAX	chr14:65006534-65008121	A549	lung:	n/a	n/a
48	TAF1	chr14:65006553-65007695	MCF-7	breast:	n/a	n/a
49	POLR2A	chr14:65006011-65009255	MCF-7	breast:	n/a	n/a
50	POLR2A	chr14:65006133-65007737	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65005458..65007740-chr14:65223841..65226148,2	MCF-7	breast:
2	chr14:65005088..65007392-chr14:65188450..65190752,3	MCF-7	breast:
3	chr14:64969034..64974113-chr14:65005478..65010690,22	MCF-7	breast:
4	chr14:65006312..65006877-chr18:3653628..3654511,2	HCT-116	colon:
5	chr14:64988143..64990019-chr14:65005055..65006993,2	MCF-7	breast:
6	chr14:65005138..65007971-chr14:65016762..65019337,2	MCF-7	breast:
7	chr14:64803941..64806112-chr14:65005957..65008329,2	MCF-7	breast:
8	chr14:65005373..65008937-chr14:65014849..65020282,8	MCF-7	breast:
9	chr14:64967941..64976890-chr14:65001097..65012463,31	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259160	TF binding region
HSPA2	TF binding region
ENSG00000140009	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000165807	Chromatin interaction
ENSG00000214770	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17101919	0.91[AFR][1000 genomes]
rs2123464	1.00[AFR][1000 genomes]
rs45472695	1.00[AFR][1000 genomes]

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	esv3390097	chr14:65002586-65009255	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65003800-65006600	Weak transcription	HSMMtube	muscle
2	chr14:65005200-65006600	Enhancers	Spleen	Spleen
3	chr14:65005800-65007000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr14:65005800-65007400	Active TSS	Duodenum Mucosa	Duodenum
5	chr14:65005800-65007400	Active TSS	Fetal Kidney	kidney
6	chr14:65005800-65007600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr14:65005800-65007600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:65005800-65007600	Active TSS	Colonic Mucosa	Colon
9	chr14:65005800-65007600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr14:65005800-65007600	Active TSS	Esophagus	oesophagus
11	chr14:65005800-65007600	Active TSS	Rectal Smooth Muscle	rectum
12	chr14:65005800-65007600	Active TSS	Osteobl	bone
13	chr14:65005800-65010200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr14:65005800-65011600	Active TSS	Brain Anterior Caudate	brain
15	chr14:65005800-65012000	Active TSS	Brain Angular Gyrus	brain
16	chr14:65005800-65012000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:65006000-65006600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr14:65006000-65006800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:65006000-65006800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:65006000-65007000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr14:65006000-65007000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:65006000-65007000	Active TSS	Placenta Amnion	Placenta Amnion
23	chr14:65006000-65007200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr14:65006000-65007200	Active TSS	H1 Cell Line	embryonic stem cell
25	chr14:65006000-65007200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr14:65006000-65007400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr14:65006000-65007400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:65006000-65007400	Active TSS	Pancreas	Pancrea
29	chr14:65006000-65007600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:65006000-65007600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:65006000-65007600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:65006000-65007600	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr14:65006000-65007600	Bivalent/Poised TSS	Fetal Brain Female	brain
34	chr14:65006000-65007600	Active TSS	Left Ventricle	heart
35	chr14:65006000-65007600	Active TSS	Stomach Mucosa	stomach
36	chr14:65006000-65007800	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr14:65006000-65008600	Active TSS	Right Atrium	heart
38	chr14:65006000-65010400	Active TSS	Aorta	Aorta
39	chr14:65006000-65011400	Active TSS	Colon Smooth Muscle	Colon
40	chr14:65006000-65012000	Active TSS	Brain Substantia Nigra	brain
41	chr14:65006200-65006600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:65006200-65006600	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr14:65006200-65006600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
44	chr14:65006200-65006600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr14:65006200-65006600	Flanking Active TSS	Liver	Liver
46	chr14:65006200-65006600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr14:65006200-65006600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr14:65006200-65006600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr14:65006200-65007000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:65006200-65007000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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