Variant report

Variant	rs59917589
Chromosome Location	chr14:105490983-105490984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr14:105490958-105491619	A549	lung:	n/a	n/a
2	FOSL2	chr14:105490982-105491720	A549	lung:	n/a	n/a
3	TCF12	chr14:105490951-105491788	A549	lung:	n/a	n/a
4	POLR2A	chr14:105485371-105492836	U87	brain:	n/a	n/a
5	STAT3	chr14:105489522-105491556	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr14:105490977-105491711	A549	lung:	n/a	n/a
7	EP300	chr14:105490964-105491657	SK-N-SH	brain:	n/a	n/a
8	CEBPB	chr14:105490968-105491615	IMR90	lung:	n/a	n/a
9	CEBPB	chr14:105490958-105491594	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:105490847-105491678	U87	brain:	n/a	n/a
11	TCF12	chr14:105490963-105491670	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr14:105490946-105491737	SK-N-SH	brain:	n/a	n/a
13	RCOR1	chr14:105490966-105491741	IMR90	lung:	n/a	n/a
14	SP1	chr14:105490940-105491685	HCT-116	colon:	n/a	n/a
15	SP1	chr14:105490966-105491632	A549	lung:	n/a	n/a
16	JUND	chr14:105490966-105491646	SK-N-SH	brain:	n/a	chr14:105491385-105491396
17	CEBPB	chr14:105490958-105491635	A549	lung:	n/a	n/a
18	TCF12	chr14:105490962-105491739	SK-N-SH	brain:	n/a	n/a
19	CEBPB	chr14:105490941-105491676	A549	lung:	n/a	n/a
20	GATA3	chr14:105490969-105491686	A549	lung:	n/a	n/a
21	FOSL1	chr14:105490971-105491745	HCT-116	colon:	n/a	n/a
22	POLR2A	chr14:105487644-105492830	U87	brain:	n/a	n/a
23	CHD1	chr14:105490879-105491658	IMR90	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105448840..105458160-chr14:105477229..105492100,32	MCF-7	breast:
2	chr14:105399205..105401135-chr14:105489654..105492411,2	MCF-7	breast:
3	chr14:105489544..105491309-chr14:105508216..105509890,2	K562	blood:
4	chr14:105460201..105461833-chr14:105490190..105492813,2	MCF-7	breast:
5	chr14:105433937..105458439-chr14:105476653..105492775,70	MCF-7	breast:

No data

Variant related genes	Relation type
CDCA4	TF binding region
ENSG00000140104	Chromatin interaction
ENSG00000185567	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11846421	1.00[ASN][1000 genomes]
rs1583854	1.00[ASN][1000 genomes]
rs1595945	0.82[ASN][1000 genomes]
rs1595946	0.82[ASN][1000 genomes]
rs2819459	0.82[ASN][1000 genomes]
rs2819467	1.00[ASN][1000 genomes]
rs56879552	0.83[ASN][1000 genomes]
rs57029322	0.83[ASN][1000 genomes]
rs57510708	0.83[ASN][1000 genomes]
rs58782219	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59870288	0.83[ASN][1000 genomes]
rs60317283	0.83[ASN][1000 genomes]
rs60664931	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv456457	chr14:105404384-105555396	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv566141	chr14:105404384-105555396	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv902420	chr14:105410183-105494262	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	nsv902421	chr14:105410183-105574843	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
11	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
13	nsv1042303	chr14:105435649-105633544	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
14	nsv456458	chr14:105435649-105690092	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv566150	chr14:105435649-105690092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
17	nsv566151	chr14:105459140-105555396	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
18	nsv456459	chr14:105459140-105617891	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
19	nsv566152	chr14:105459140-105617891	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
20	nsv902425	chr14:105463936-105690092	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
21	nsv983941	chr14:105485574-105534240	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105488400-105492000	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr14:105488400-105494000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:105488400-105496600	Weak transcription	Esophagus	oesophagus
4	chr14:105488400-105497400	Weak transcription	Gastric	stomach
5	chr14:105488600-105491200	Weak transcription	Left Ventricle	heart
6	chr14:105488600-105491800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:105488600-105491800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr14:105488600-105492400	Enhancers	NHDF-Ad	bronchial
9	chr14:105488600-105499200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:105488600-105499200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:105488800-105491200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:105488800-105491600	Enhancers	NHLF	lung
13	chr14:105488800-105492000	Enhancers	HSMMtube	muscle
14	chr14:105488800-105492400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:105488800-105492400	Enhancers	Osteobl	bone
16	chr14:105488800-105493000	Enhancers	HSMM	muscle
17	chr14:105488800-105493600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:105488800-105494800	Enhancers	HMEC	breast
19	chr14:105488800-105499000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr14:105488800-105499000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:105488800-105499200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:105488800-105499400	Weak transcription	Pancreas	Pancrea
23	chr14:105488800-105499800	Weak transcription	Spleen	Spleen
24	chr14:105489000-105491400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:105489000-105491600	Enhancers	Hela-S3	cervix
26	chr14:105489000-105491800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:105489000-105492000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:105489000-105492200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:105489000-105493200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:105489000-105493800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:105489000-105495000	Enhancers	NH-A	brain
32	chr14:105489000-105497200	Weak transcription	Fetal Heart	heart
33	chr14:105489000-105499200	Weak transcription	Primary T cells from cord blood	blood
34	chr14:105489000-105499200	Weak transcription	Fetal Intestine Small	intestine
35	chr14:105489200-105491200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:105489200-105493800	Enhancers	HUVEC	blood vessel
37	chr14:105489200-105495200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:105489200-105499000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:105489400-105492000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:105489600-105491200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:105489600-105491200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr14:105489600-105499200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:105489800-105492000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:105490000-105491800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr14:105490200-105494600	Enhancers	NHEK	skin
46	chr14:105490400-105492000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:105490400-105492800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:105490600-105491000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:105490600-105491200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:105490600-105492000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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