Variant report

Variant	rs45472695
Chromosome Location	chr14:65006331-65006332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:65006220-65006370	HCPEpiC	choroid plexus:	n/a	n/a
2	MAX	chr14:65005845-65006475	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:65005906-65007370	Hela-S3	cervix:	n/a	n/a
4	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
5	POLR2A	chr14:65006189-65006381	A549	lung:	n/a	n/a
6	TAF1	chr14:65006149-65006449	H1-hESC	embryonic stem cell:	n/a	n/a
7	SMARCB1	chr14:65006135-65007636	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:65006312-65006332	GM12878	blood:	n/a	n/a
9	GABPA	chr14:65005769-65006484	MCF-7	breast:	n/a	chr14:65006378-65006387
10	POLR2A	chr14:65005926-65007512	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:65005875-65007822	MCF-7	breast:	n/a	n/a
12	TCF12	chr14:65005596-65008103	A549	lung:	n/a	chr14:65006321-65006331 chr14:65007152-65007159
13	GTF2F1	chr14:65005852-65006358	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr14:65005838-65006485	Hela-S3	cervix:	n/a	n/a
15	ZNF143	chr14:65006207-65006354	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr14:65005947-65006672	MCF-7	breast:	n/a	n/a
17	GABPA	chr14:65005634-65007527	MCF-7	breast:	n/a	chr14:65007445-65007454 chr14:65006378-65006387
18	POLR2A	chr14:65006017-65008275	MCF-7	breast:	n/a	n/a
19	MYC	chr14:65006241-65006397	MCF-7	breast:	n/a	n/a
20	POLR2A	chr14:65006230-65006395	A549	lung:	n/a	n/a
21	POLR2A	chr14:65006261-65006457	HCT-116	colon:	n/a	n/a
22	ELF1	chr14:65006125-65006510	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:65005818-65006510	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr14:65006190-65006465	H1-hESC	embryonic stem cell:	n/a	n/a
25	ELF1	chr14:65005710-65006497	MCF-7	breast:	n/a	n/a
26	POLR2A	chr14:65005904-65007803	HUVEC	blood vessel:	n/a	n/a
27	SETDB1	chr14:65005944-65006737	U2OS	brain:	n/a	n/a
28	MAX	chr14:65006120-65006441	SK-N-SH	brain:	n/a	n/a
29	E2F4	chr14:65006125-65006519	Hela-S3	cervix:	n/a	chr14:65006340-65006347 chr14:65006340-65006347 chr14:65006336-65006348 chr14:65006340-65006347
30	YY1	chr14:65006177-65006377	GM12878	blood:	n/a	chr14:65006317-65006328
31	GABPA	chr14:65006013-65006424	A549	lung:	n/a	chr14:65006378-65006387
32	MYC	chr14:65006285-65006356	Hela-S3	cervix:	n/a	n/a
33	E2F4	chr14:65006131-65006508	MCF10A-Er-Src	breast:	n/a	chr14:65006340-65006347 chr14:65006340-65006347 chr14:65006336-65006348 chr14:65006340-65006347
34	E2F6	chr14:65006018-65006453	A549	lung:	n/a	chr14:65006340-65006347 chr14:65006340-65006347 chr14:65006336-65006348 chr14:65006340-65006347
35	CTCF	chr14:65006275-65006351	MCF-7	breast:	n/a	n/a
36	MAX	chr14:65006127-65006447	H1-hESC	embryonic stem cell:	n/a	n/a
37	SMC3	chr14:65005969-65006415	Hela-S3	cervix:	n/a	n/a
38	HA-E2F1	chr14:65006142-65006522	Hela-S3	cervix:	n/a	chr14:65006336-65006347 chr14:65006340-65006347 chr14:65006340-65006347 chr14:65006336-65006348 chr14:65006340-65006347
39	TBP	chr14:65005839-65006424	Hela-S3	cervix:	n/a	n/a
40	MXI1	chr14:65005968-65006413	Hela-S3	cervix:	n/a	n/a
41	MYC	chr14:65006181-65006461	MCF-7	breast:	n/a	n/a
42	MAX	chr14:65005713-65006485	MCF-7	breast:	n/a	n/a
43	POLR2A	chr14:65005728-65008037	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr14:65005823-65007195	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr14:65006285-65006336	A549	lung:	n/a	n/a
46	GTF2F1	chr14:65006103-65006396	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr14:65006084-65006469	ECC-1	luminal epithelium:	n/a	n/a
48	SP1	chr14:65005933-65006538	A549	lung:	n/a	chr14:65006297-65006307 chr14:65006297-65006307
49	MAX	chr14:65006046-65006453	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr14:65006167-65007901	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65006281-65006331	HAEpiC	amniotic membrane:	n/a
2	chr14:65006281-65006331	U87	brain:	n/a
3	chr14:65006281-65006331	GM12878	blood:	n/a
4	chr14:65006281-65006331	Hepatocyte	liver:	n/a
5	chr14:65006281-65006331	H1-hESC	embryonic stem cell:	embryo
6	chr14:65006281-65006331	GM12892	blood:	n/a
7	chr14:65006281-65006331	HRCEpiC	kidney:	n/a
8	chr14:65006281-65006331	CMK	blood:	n/a
9	chr14:65006281-65006331	AG09309	skin:	n/a
10	chr14:65006281-65006331	SK-N-MC	brain:	n/a
11	chr14:65006281-65006331	AG09319	gingival:	n/a
12	chr14:65006281-65006331	MCF-7	breast:	n/a
13	chr14:65006281-65006331	Hela-S3	cervix:	n/a
14	chr14:65006281-65006331	ProgFib	skin:	n/a
15	chr14:65006281-65006331	BE2_C	brain:	n/a
16	chr14:65006281-65006331	HNPCEpiC	eye:	n/a
17	chr14:65006281-65006331	HCM	heart:	n/a
18	chr14:65006281-65006331	PANC-1	pancreas:	n/a
19	chr14:65006281-65006331	HRE	kidney:	n/a
20	chr14:65006281-65006331	PrEC	prostate:	n/a
21	chr14:65006281-65006331	Jurkat	blood:	n/a
22	chr14:65006281-65006331	AG04449	skin:	fetal
23	chr14:65006281-65006331	HIPEpiC	eye:	n/a
24	chr14:65006281-65006331	AG04450	lung:	fetal
25	chr14:65006281-65006331	BJ	skin:	n/a
26	chr14:65006281-65006331	HL-60	blood:	n/a
27	chr14:65006281-65006331	HepG2	liver:	n/a
28	chr14:65006281-65006331	GM19239	blood:	n/a
29	chr14:65006281-65006331	GM12891	blood:	n/a
30	chr14:65006281-65006331	AoSMC	blood vessel:	n/a
31	chr14:65006281-65006331	SK-N-SH	brain:	n/a
32	chr14:65006281-65006331	SKMC	muscle:	n/a
33	chr14:65006281-65006331	HMEC	breast:	n/a
34	chr14:65006281-65006331	T-47D	breast:	n/a
35	chr14:65006281-65006331	LNCaP	prostate:	n/a
36	chr14:65006281-65006331	MCF10A-Er-Src	breast:	n/a
37	chr14:65006281-65006331	HUVEC	blood vessel:	n/a
38	chr14:65006281-65006331	SK-N-SH_RA	brain:	n/a
39	chr14:65006281-65006331	HRPEpiC	eye:	n/a
40	chr14:65006281-65006331	NHDF-neo	bronchial:	n/a
41	chr14:65006281-65006331	ECC-1	luminal epithelium:	n/a
42	chr14:65006281-65006331	A549	lung:	n/a
43	chr14:65006281-65006331	NHBE	bronchial:	n/a
44	chr14:65006281-65006331	HCT-116	colon:	n/a
45	chr14:65006281-65006331	K562	blood:	n/a
46	chr14:65006281-65006331	HCF	heart:	n/a
47	chr14:65006281-65006331	PFSK-1	brain:	n/a
48	chr14:65006281-65006331	HCPEpiC	choroid plexus:	n/a
49	chr14:65006281-65006331	HEK293	kidney:	embryo
50	chr14:65006281-65006331	HEEpiC	esophagus:	n/a

(count:9 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10498514	0.94[EUR][1000 genomes]
rs11844318	1.00[EUR][1000 genomes]
rs11848452	0.82[EUR][1000 genomes]
rs11849167	0.82[EUR][1000 genomes]
rs11850644	0.94[EUR][1000 genomes]
rs11851751	0.94[EUR][1000 genomes]
rs17101851	0.94[EUR][1000 genomes]
rs17101854	0.94[EUR][1000 genomes]
rs17101915	1.00[EUR][1000 genomes]
rs17101919	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2123464	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2295638	0.94[EUR][1000 genomes]
rs2295639	0.94[EUR][1000 genomes]
rs35062852	0.94[EUR][1000 genomes]
rs45498699	1.00[EUR][1000 genomes]
rs45523434	1.00[EUR][1000 genomes]
rs45526332	1.00[AFR][1000 genomes]
rs45608633	0.89[EUR][1000 genomes]
rs57092929	0.83[EUR][1000 genomes]
rs59096477	0.94[EUR][1000 genomes]
rs59397130	0.94[EUR][1000 genomes]
rs59403712	0.94[EUR][1000 genomes]
rs59422037	0.94[EUR][1000 genomes]
rs59686564	0.94[EUR][1000 genomes]
rs59770063	0.94[EUR][1000 genomes]
rs60063929	0.94[EUR][1000 genomes]
rs60806768	0.94[EUR][1000 genomes]
rs61107070	0.94[EUR][1000 genomes]
rs61290360	0.88[EUR][1000 genomes]
rs73263767	0.94[EUR][1000 genomes]
rs73263770	0.94[EUR][1000 genomes]
rs73263773	0.94[EUR][1000 genomes]
rs73263781	0.94[EUR][1000 genomes]
rs73263782	0.94[EUR][1000 genomes]
rs73277968	0.94[EUR][1000 genomes]
rs73277970	0.94[EUR][1000 genomes]
rs73277972	0.94[EUR][1000 genomes]
rs73277975	0.94[EUR][1000 genomes]
rs73277976	0.94[EUR][1000 genomes]
rs73277977	0.94[EUR][1000 genomes]
rs73277979	0.94[EUR][1000 genomes]
rs73277985	0.94[EUR][1000 genomes]
rs8019215	0.94[EUR][1000 genomes]
rs8022867	0.94[EUR][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	chr14:65005200-65006400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:65005200-65006600	Enhancers	Spleen	Spleen
4	chr14:65005600-65006400	Bivalent Enhancer	Fetal Brain Male	brain
5	chr14:65005800-65006400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:65005800-65006400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr14:65005800-65006400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:65005800-65006400	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr14:65005800-65006400	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr14:65005800-65006400	Flanking Active TSS	Hela-S3	cervix
11	chr14:65005800-65006400	Flanking Active TSS	HUVEC	blood vessel
12	chr14:65005800-65007000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr14:65005800-65007400	Active TSS	Duodenum Mucosa	Duodenum
14	chr14:65005800-65007400	Active TSS	Fetal Kidney	kidney
15	chr14:65005800-65007600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr14:65005800-65007600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:65005800-65007600	Active TSS	Colonic Mucosa	Colon
18	chr14:65005800-65007600	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr14:65005800-65007600	Active TSS	Esophagus	oesophagus
20	chr14:65005800-65007600	Active TSS	Rectal Smooth Muscle	rectum
21	chr14:65005800-65007600	Active TSS	Osteobl	bone
22	chr14:65005800-65010200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr14:65005800-65011600	Active TSS	Brain Anterior Caudate	brain
24	chr14:65005800-65012000	Active TSS	Brain Angular Gyrus	brain
25	chr14:65005800-65012000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:65006000-65006400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:65006000-65006400	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr14:65006000-65006400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr14:65006000-65006400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:65006000-65006400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr14:65006000-65006400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:65006000-65006400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr14:65006000-65006400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:65006000-65006400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:65006000-65006400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:65006000-65006400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:65006000-65006400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:65006000-65006400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:65006000-65006400	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr14:65006000-65006400	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr14:65006000-65006400	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr14:65006000-65006400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr14:65006000-65006400	Flanking Active TSS	Fetal Lung	lung
44	chr14:65006000-65006400	Flanking Active TSS	Placenta	Placenta
45	chr14:65006000-65006400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr14:65006000-65006400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr14:65006000-65006400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr14:65006000-65006400	Flanking Bivalent TSS/Enh	Thymus	Thymus
49	chr14:65006000-65006400	Flanking Active TSS	GM12878-XiMat	blood
50	chr14:65006000-65006400	Flanking Active TSS	HMEC	breast

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