Variant report

Variant	rs45544744
Chromosome Location	chr14:65006084-65006085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:183)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:65005845-65006475	Hela-S3	cervix:	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	GABPA	chr14:65005769-65006484	MCF-7	breast:	n/a	chr14:65006378-65006387
5	POLR2A	chr14:65005926-65007512	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr14:65005875-65007822	MCF-7	breast:	n/a	n/a
7	TCF12	chr14:65005596-65008103	A549	lung:	n/a	chr14:65006321-65006331 chr14:65007152-65007159
8	GTF2F1	chr14:65005852-65006358	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr14:65005838-65006485	Hela-S3	cervix:	n/a	n/a
10	MAX	chr14:65005947-65006672	MCF-7	breast:	n/a	n/a
11	GABPA	chr14:65005634-65007527	MCF-7	breast:	n/a	chr14:65007445-65007454 chr14:65006378-65006387
12	POLR2A	chr14:65006017-65008275	MCF-7	breast:	n/a	n/a
13	POLR2A	chr14:65005818-65006510	HUVEC	blood vessel:	n/a	n/a
14	ELF1	chr14:65005710-65006497	MCF-7	breast:	n/a	n/a
15	POLR2A	chr14:65005904-65007803	HUVEC	blood vessel:	n/a	n/a
16	SETDB1	chr14:65005944-65006737	U2OS	brain:	n/a	n/a
17	CTCF	chr14:65006060-65006210	HAc	cerebellar:	n/a	n/a
18	GABPA	chr14:65006013-65006424	A549	lung:	n/a	chr14:65006378-65006387
19	E2F6	chr14:65006018-65006453	A549	lung:	n/a	chr14:65006340-65006347 chr14:65006340-65006347 chr14:65006336-65006348 chr14:65006340-65006347
20	SMC3	chr14:65005969-65006415	Hela-S3	cervix:	n/a	n/a
21	TBP	chr14:65005839-65006424	Hela-S3	cervix:	n/a	n/a
22	MXI1	chr14:65005968-65006413	Hela-S3	cervix:	n/a	n/a
23	MAX	chr14:65005713-65006485	MCF-7	breast:	n/a	n/a
24	MYC	chr14:65006030-65006089	MCF-7	breast:	n/a	n/a
25	POLR2A	chr14:65005728-65008037	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr14:65005892-65006105	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr14:65005823-65007195	Hela-S3	cervix:	n/a	n/a
28	MAX	chr14:65006084-65006469	ECC-1	luminal epithelium:	n/a	n/a
29	SP1	chr14:65005933-65006538	A549	lung:	n/a	chr14:65006297-65006307 chr14:65006297-65006307
30	MAX	chr14:65006046-65006453	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr14:65005918-65006480	HUVEC	blood vessel:	n/a	n/a
32	MAX	chr14:65005780-65006492	A549	lung:	n/a	n/a
33	POLR2A	chr14:65006077-65006471	ECC-1	luminal epithelium:	n/a	n/a
34	TBP	chr14:65006024-65007739	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr14:65005839-65007677	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr14:65006031-65006440	A549	lung:	n/a	chr14:65006378-65006387
37	E2F6	chr14:65005922-65008233	H1-hESC	embryonic stem cell:	n/a	chr14:65006340-65006347 chr14:65006340-65006347 chr14:65006336-65006348 chr14:65006340-65006347
38	ELF1	chr14:65006027-65006381	A549	lung:	n/a	n/a
39	MAX	chr14:65006049-65006465	H1-hESC	embryonic stem cell:	n/a	n/a
40	E2F6	chr14:65006008-65008058	A549	lung:	n/a	chr14:65006340-65006347 chr14:65006340-65006347 chr14:65006336-65006348 chr14:65006340-65006347
41	MAX	chr14:65006021-65006525	A549	lung:	n/a	n/a
42	POLR2A	chr14:65006011-65009255	MCF-7	breast:	n/a	n/a
43	MAX	chr14:65005732-65008534	A549	lung:	n/a	n/a
44	ELF1	chr14:65005754-65006513	MCF-7	breast:	n/a	n/a
45	TAF1	chr14:65006042-65007761	H1-hESC	embryonic stem cell:	n/a	n/a
46	TCF7L2	chr14:65005887-65007306	Hela-S3	cervix:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65006071-65006121	RPTEC	kidney:	n/a
2	chr14:65006053-65006103	GM12891	blood:	n/a
3	chr14:65006053-65006103	HepG2	liver:	n/a
4	chr14:65006071-65006121	NT2-D1	testis:	n/a
5	chr14:65006053-65006103	MCF10A-Er-Src	breast:	n/a
6	chr14:65006053-65006103	HRPEpiC	eye:	n/a
7	chr14:65006041-65006091	HRCEpiC	kidney:	n/a
8	chr14:65006041-65006091	NHBE	bronchial:	n/a
9	chr14:65006053-65006103	T-47D	breast:	n/a
10	chr14:65006041-65006091	NB4	blood:	n/a
11	chr14:65006041-65006091	NT2-D1	testis:	n/a
12	chr14:65006041-65006091	H1-hESC	embryonic stem cell:	embryo
13	chr14:65006041-65006091	U87	brain:	n/a
14	chr14:65006053-65006103	A549	lung:	n/a
15	chr14:65006071-65006121	HepG2	liver:	n/a
16	chr14:65006041-65006091	AG09309	skin:	n/a
17	chr14:65006041-65006091	A549	lung:	n/a
18	chr14:65006071-65006121	LNCaP	prostate:	n/a
19	chr14:65006053-65006103	HCM	heart:	n/a
20	chr14:65006053-65006103	NHBE	bronchial:	n/a
21	chr14:65006041-65006091	ECC-1	luminal epithelium:	n/a
22	chr14:65006071-65006121	HRPEpiC	eye:	n/a
23	chr14:65006053-65006103	K562	blood:	n/a
24	chr14:65006041-65006091	NH-A	brain:	n/a
25	chr14:65006071-65006121	NB4	blood:	n/a
26	chr14:65006053-65006103	Caco-2	colon:	n/a
27	chr14:65006041-65006091	ovcar-3	ovarian:	n/a
28	chr14:65006041-65006091	HRPEpiC	eye:	n/a
29	chr14:65006071-65006121	A549	lung:	n/a
30	chr14:65006053-65006103	ovcar-3	ovarian:	n/a
31	chr14:65006041-65006091	T-47D	breast:	n/a
32	chr14:65006071-65006121	GM12892	blood:	n/a
33	chr14:65006053-65006103	AG09309	skin:	n/a
34	chr14:65006071-65006121	SAEC	small airway:	n/a
35	chr14:65006041-65006091	Hepatocyte	liver:	n/a
36	chr14:65006053-65006103	ECC-1	luminal epithelium:	n/a
37	chr14:65006071-65006121	HL-60	blood:	n/a
38	chr14:65006041-65006091	GM12892	blood:	n/a
39	chr14:65006053-65006103	HEEpiC	esophagus:	n/a
40	chr14:65006041-65006091	HL-60	blood:	n/a
41	chr14:65006041-65006091	SKMC	muscle:	n/a
42	chr14:65006053-65006103	HRE	kidney:	n/a
43	chr14:65006041-65006091	AG10803	skin:	n/a
44	chr14:65006041-65006091	MCF-7	breast:	n/a
45	chr14:65006071-65006121	HEEpiC	esophagus:	n/a
46	chr14:65006041-65006091	HNPCEpiC	eye:	n/a
47	chr14:65006041-65006091	GM12891	blood:	n/a
48	chr14:65006053-65006103	CMK	blood:	n/a
49	chr14:65006041-65006091	HEK293	kidney:	embryo
50	chr14:65006041-65006091	AG04450	lung:	fetal

(count:8 , 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	chr14:64988143..64990019-chr14:65005055..65006993,2	MCF-7	breast:
5	chr14:65005138..65007971-chr14:65016762..65019337,2	MCF-7	breast:
6	chr14:64803941..64806112-chr14:65005957..65008329,2	MCF-7	breast:
7	chr14:65005373..65008937-chr14:65014849..65020282,8	MCF-7	breast:
8	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
HSPA2	CpG island
ENSG00000259160	CpG island
ENSG00000214770	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000140009	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000165807	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs45467597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55919712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56357777	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57473635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58016138	1.00[AMR][1000 genomes]
rs58434443	1.00[AFR][1000 genomes]
rs60458560	1.00[AMR][1000 genomes]
rs60591932	1.00[AMR][1000 genomes]
rs60835654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61375379	1.00[AMR][1000 genomes]
rs74056313	1.00[AFR][1000 genomes]
rs74056318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056356	1.00[AMR][1000 genomes]
rs74056357	1.00[AMR][1000 genomes]
rs74056360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056444	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74058121	1.00[AFR][1000 genomes]
rs74058143	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64990200-65006200	Weak transcription	Small Intestine	intestine
2	chr14:64996400-65006200	Weak transcription	HSMM	muscle
3	chr14:64996600-65006200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:65003800-65006200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:65003800-65006600	Weak transcription	HSMMtube	muscle
6	chr14:65004000-65006200	Weak transcription	HepG2	liver
7	chr14:65004400-65006200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:65005200-65006400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:65005200-65006600	Enhancers	Spleen	Spleen
10	chr14:65005600-65006400	Bivalent Enhancer	Fetal Brain Male	brain
11	chr14:65005800-65006200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:65005800-65006200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr14:65005800-65006200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr14:65005800-65006200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr14:65005800-65006200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:65005800-65006200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:65005800-65006200	Bivalent Enhancer	Fetal Thymus	thymus
18	chr14:65005800-65006200	Enhancers	Right Ventricle	heart
19	chr14:65005800-65006200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr14:65005800-65006200	Flanking Active TSS	A549	lung
21	chr14:65005800-65006200	Flanking Active TSS	NHDF-Ad	bronchial
22	chr14:65005800-65006400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:65005800-65006400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr14:65005800-65006400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:65005800-65006400	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr14:65005800-65006400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr14:65005800-65006400	Flanking Active TSS	Hela-S3	cervix
28	chr14:65005800-65006400	Flanking Active TSS	HUVEC	blood vessel
29	chr14:65005800-65007000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr14:65005800-65007400	Active TSS	Duodenum Mucosa	Duodenum
31	chr14:65005800-65007400	Active TSS	Fetal Kidney	kidney
32	chr14:65005800-65007600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr14:65005800-65007600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:65005800-65007600	Active TSS	Colonic Mucosa	Colon
35	chr14:65005800-65007600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr14:65005800-65007600	Active TSS	Esophagus	oesophagus
37	chr14:65005800-65007600	Active TSS	Rectal Smooth Muscle	rectum
38	chr14:65005800-65007600	Active TSS	Osteobl	bone
39	chr14:65005800-65010200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr14:65005800-65011600	Active TSS	Brain Anterior Caudate	brain
41	chr14:65005800-65012000	Active TSS	Brain Angular Gyrus	brain
42	chr14:65005800-65012000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:65006000-65006200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr14:65006000-65006200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:65006000-65006200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr14:65006000-65006200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr14:65006000-65006200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr14:65006000-65006200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:65006000-65006200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:65006000-65006200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood

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