Variant report

Variant	rs3759585
Chromosome Location	chr14:104091328-104091329
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL1	chr14:104091122-104091651	HCT-116	colon:	n/a	n/a
2	BHLHE40	chr14:104091243-104091456	HepG2	liver:	n/a	n/a
3	MAX	chr14:104091196-104091553	K562	blood:	n/a	n/a
4	MXI1	chr14:104091103-104092082	IMR90	lung:	n/a	n/a
5	CEBPB	chr14:104091099-104091541	Hela-S3	cervix:	n/a	n/a
6	MAX	chr14:104091205-104091610	SK-N-SH	brain:	n/a	n/a
7	MAX	chr14:104091042-104092002	A549	lung:	n/a	n/a
8	RCOR1	chr14:104091181-104091540	Hela-S3	cervix:	n/a	n/a
9	GATA3	chr14:104091177-104091805	MCF-7	breast:	n/a	n/a
10	MYC	chr14:104091214-104091573	K562	blood:	n/a	n/a
11	STAT3	chr14:104091186-104091459	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr14:104091236-104091466	MCF10A-Er-Src	breast:	n/a	n/a
13	MAX	chr14:104091221-104091857	A549	lung:	n/a	n/a
14	POLR2A	chr14:104091159-104091496	HUVEC	blood vessel:	n/a	n/a
15	MYC	chr14:104091118-104091753	A549	lung:	n/a	n/a
16	POLR2A	chr14:104091102-104091927	Hela-S3	cervix:	n/a	n/a
17	GATA2	chr14:104091118-104091595	HUVEC	blood vessel:	n/a	n/a
18	MYC	chr14:104091290-104091503	MCF-7	breast:	n/a	n/a
19	POLR2A	chr14:104091225-104091632	Hela-S3	cervix:	n/a	n/a
20	E2F4	chr14:104091248-104091362	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr14:104091239-104091439	MCF10A-Er-Src	breast:	n/a	n/a
22	MAFK	chr14:104091323-104091523	Hela-S3	cervix:	n/a	n/a
23	MXI1	chr14:104091249-104091473	HepG2	liver:	n/a	n/a
24	MAX	chr14:104091146-104091884	HCT-116	colon:	n/a	n/a
25	MAZ	chr14:104091098-104091985	IMR90	lung:	n/a	n/a
26	SP1	chr14:104091202-104091878	HCT-116	colon:	n/a	chr14:104091419-104091431 chr14:104091480-104091489 chr14:104091420-104091429 chr14:104091479-104091488 chr14:104091419-104091431
27	RCOR1	chr14:104091207-104091650	K562	blood:	n/a	n/a
28	MYC	chr14:104091185-104091581	MCF10A-Er-Src	breast:	n/a	n/a
29	CHD2	chr14:104091315-104091896	GM12878	blood:	n/a	n/a
30	ZNF143	chr14:104091228-104091456	Hela-S3	cervix:	n/a	n/a
31	MAZ	chr14:104091212-104091683	Hela-S3	cervix:	n/a	n/a
32	GATA3	chr14:104091106-104091613	MCF-7	breast:	n/a	n/a
33	POLR2A	chr14:104091195-104091563	Hela-S3	cervix:	n/a	n/a
34	MAX	chr14:104091205-104091667	Hela-S3	cervix:	n/a	n/a
35	MAZ	chr14:104091202-104091685	K562	blood:	n/a	n/a
36	RFX5	chr14:104091223-104091718	Hela-S3	cervix:	n/a	n/a
37	FOS	chr14:104091196-104091460	MCF10A-Er-Src	breast:	n/a	n/a
38	MAX	chr14:104091225-104091671	MCF-7	breast:	n/a	n/a
39	MAX	chr14:104091082-104091687	A549	lung:	n/a	n/a
40	MYC	chr14:104091237-104091573	MCF-7	breast:	n/a	n/a
41	POLR2A	chr14:104091211-104091557	HCT-116	colon:	n/a	n/a
42	JUND	chr14:104091204-104091469	K562	blood:	n/a	n/a
43	HMGN3	chr14:104091261-104091489	K562	blood:	n/a	n/a
44	E2F6	chr14:104091257-104091471	K562	blood:	n/a	n/a
45	POLR2A	chr14:104091297-104091802	GM12878	blood:	n/a	n/a
46	EP300	chr14:104091240-104091499	Hela-S3	cervix:	n/a	n/a
47	GTF2F1	chr14:104091220-104091515	Hela-S3	cervix:	n/a	n/a
48	MYC	chr14:104091310-104091523	Hela-S3	cervix:	n/a	n/a
49	FOS	chr14:104091220-104091538	HUVEC	blood vessel:	n/a	n/a
50	MYC	chr14:104091179-104091589	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104087141..104088992-chr14:104091029..104093506,2	MCF-7	breast:
2	chr14:104026845..104031617-chr14:104090112..104098528,12	MCF-7	breast:
3	chr14:104089914..104092902-chr14:104103042..104105826,2	K562	blood:
4	chr14:104021728..104024444-chr14:104089391..104091550,2	K562	blood:
5	chr14:104089889..104092847-chr14:104093725..104096816,6	K562	blood:
6	chr14:104086723..104088559-chr14:104090866..104093232,2	K562	blood:
7	chr14:104090146..104091917-chr14:104185112..104187505,2	MCF-7	breast:
8	chr14:104088488..104094508-chr14:104095620..104100899,7	K562	blood:

No data

Variant related genes	Relation type
KLC1	TF binding region
ENSG00000256053	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000166170	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28373891	0.96[ASN][1000 genomes]
rs3212092	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3212135	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	esv3490243	chr14:104083248-104099394	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
10	esv3490244	chr14:104083248-104099394	Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
11	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104089600-104092000	Enhancers	NHLF	lung
2	chr14:104089600-104092600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr14:104089600-104092800	Enhancers	Spleen	Spleen
4	chr14:104089800-104092400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:104089800-104092600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:104089800-104093600	Enhancers	Lung	lung
7	chr14:104090000-104091400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr14:104090000-104091400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr14:104090000-104091400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:104090000-104091400	Enhancers	Fetal Heart	heart
11	chr14:104090000-104091600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr14:104090000-104091600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr14:104090000-104092000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:104090000-104092000	Enhancers	Left Ventricle	heart
15	chr14:104090000-104092600	Enhancers	Primary T cells from cord blood	blood
16	chr14:104090000-104093000	Enhancers	HSMMtube	muscle
17	chr14:104090200-104091400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr14:104090200-104091400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:104090200-104091600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr14:104090200-104091600	Bivalent Enhancer	Fetal Stomach	stomach
21	chr14:104090200-104091600	Enhancers	Right Ventricle	heart
22	chr14:104090200-104091800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr14:104090200-104091800	Enhancers	Right Atrium	heart
24	chr14:104090200-104091800	Enhancers	Stomach Mucosa	stomach
25	chr14:104090200-104091800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr14:104090200-104092000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr14:104090200-104092000	Enhancers	Primary hematopoietic stem cells	blood
28	chr14:104090200-104092000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr14:104090200-104092000	Enhancers	HUVEC	blood vessel
30	chr14:104090200-104092000	Enhancers	NH-A	brain
31	chr14:104090200-104092200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr14:104090200-104092200	Enhancers	NHDF-Ad	bronchial
33	chr14:104090200-104092400	Enhancers	HMEC	breast
34	chr14:104090200-104092600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:104090200-104092800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:104090200-104092800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:104090200-104092800	Enhancers	Duodenum Mucosa	Duodenum
38	chr14:104090200-104092800	Enhancers	Esophagus	oesophagus
39	chr14:104090200-104092800	Enhancers	HSMM	muscle
40	chr14:104090200-104093000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:104090200-104093400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:104090200-104093400	Enhancers	Fetal Muscle Leg	muscle
43	chr14:104090200-104094400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:104090200-104094600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:104090200-104094600	Enhancers	Placenta	Placenta
46	chr14:104090400-104091400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:104090400-104092000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr14:104090400-104092000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:104090400-104092000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr14:104090400-104092800	Enhancers	Primary T cells fromperipheralblood	blood

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