Variant report

Variant	rs59324651
Chromosome Location	chr14:65802722-65802723
allele	A/C
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	EP300	chr14:65802703-65803045	SK-N-SH_RA	brain:	n/a	n/a
2	RUNX3	chr14:65802707-65803380	GM12878	blood:	n/a	n/a
3	NFIC	chr14:65802640-65803542	GM12878	blood:	n/a	n/a
4	EP300	chr14:65802706-65803175	SK-N-SH_RA	brain:	n/a	n/a
5	RUNX3	chr14:65802659-65803453	GM12878	blood:	n/a	n/a
6	MTA3	chr14:65802705-65803390	GM12878	blood:	n/a	n/a
7	PML	chr14:65802687-65803389	GM12878	blood:	n/a	n/a
8	CEBPB	chr14:65802722-65803290	GM12878	blood:	n/a	n/a
9	MTA3	chr14:65802684-65803595	GM12878	blood:	n/a	n/a
10	ATF2	chr14:65802692-65803258	GM12878	blood:	n/a	n/a
11	NFIC	chr14:65802696-65803354	GM12878	blood:	n/a	n/a
12	FOXM1	chr14:65802717-65803299	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65687538..65689210-chr14:65800729..65803430,2	MCF-7	breast:
2	chr14:65802429..65804780-chr14:65808344..65809898,2	MCF-7	breast:
3	chr14:65801912..65803776-chr14:65819342..65822288,2	MCF-7	breast:

Variant related genes	Relation type
MIR4708	TF binding region
ENSG00000255002	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12100674	1.00[EUR][1000 genomes]
rs17102582	1.00[EUR][1000 genomes]
rs17102614	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102621	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2069276	0.97[AFR][1000 genomes]
rs28465145	1.00[EUR][1000 genomes]
rs56966413	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60514832	1.00[EUR][1000 genomes]
rs61004469	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154681	1.00[EUR][1000 genomes]
rs8010623	1.00[EUR][1000 genomes]
rs8012057	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014977	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 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	chr14:65795400-65804600	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:65796000-65807200	Enhancers	Placenta	Placenta
3	chr14:65798000-65803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:65798400-65803400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr14:65798800-65803000	Enhancers	GM12878-XiMat	blood
6	chr14:65799000-65803400	Enhancers	Adipose Nuclei	Adipose
7	chr14:65799200-65803400	Enhancers	NHEK	skin
8	chr14:65799200-65805400	Enhancers	Fetal Intestine Large	intestine
9	chr14:65799400-65804200	Enhancers	Stomach Mucosa	stomach
10	chr14:65799800-65803400	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr14:65800200-65803400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:65800200-65805400	Enhancers	Fetal Intestine Small	intestine
13	chr14:65800400-65803000	Enhancers	NH-A	brain
14	chr14:65800400-65803200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr14:65800600-65803400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:65800600-65804000	Enhancers	Fetal Thymus	thymus
17	chr14:65800600-65804200	Enhancers	Primary T cells from cord blood	blood
18	chr14:65800800-65803400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:65800800-65803400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:65800800-65803400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:65800800-65803400	Enhancers	Fetal Lung	lung
22	chr14:65800800-65803400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr14:65800800-65803600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr14:65800800-65803600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr14:65801000-65803400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr14:65801000-65803600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:65801000-65803800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr14:65801000-65804000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr14:65801200-65803400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr14:65801400-65803000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:65801400-65803600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr14:65801400-65803600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:65801400-65803600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:65801400-65803800	Enhancers	Thymus	Thymus
35	chr14:65801600-65802800	Weak transcription	Colonic Mucosa	Colon
36	chr14:65801600-65803000	Weak transcription	Osteobl	bone
37	chr14:65801600-65803200	Enhancers	Left Ventricle	heart
38	chr14:65801600-65803600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr14:65801600-65803600	Enhancers	NHDF-Ad	bronchial
40	chr14:65801600-65804000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:65801600-65805800	Enhancers	Duodenum Mucosa	Duodenum
42	chr14:65801800-65803200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:65801800-65803200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:65801800-65803400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:65801800-65803400	Enhancers	NHLF	lung
46	chr14:65801800-65803600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr14:65802000-65802800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
48	chr14:65802000-65803400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr14:65802000-65803400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:65802200-65802800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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