Variant report

Variant	rs73348277
Chromosome Location	chr14:45436324-45436325
allele	A/G
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	POLR2A	chr14:45436298-45436492	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr14:45436220-45436370	GM12866	blood:	n/a	n/a
3	SMC3	chr14:45436229-45436330	GM12878	blood:	n/a	n/a
4	YY1	chr14:45436081-45436396	GM12892	blood:	n/a	n/a
5	ZNF384	chr14:45436124-45436393	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:45435660..45437969-chr14:45722310..45723934,2	MCF-7	breast:
2	chr14:45430487..45433792-chr14:45434930..45436837,4	MCF-7	breast:
3	chr14:45433894..45436353-chr14:45438696..45441267,2	MCF-7	breast:

Variant related genes	Relation type
KLHL28	TF binding region
ENSG00000129534	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000198718	Chromatin interaction

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

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

rs_ID	r²[population]
rs17115763	1.00[AMR][1000 genomes]
rs73340618	1.00[AMR][1000 genomes]
rs73340627	1.00[AMR][1000 genomes]
rs73348086	1.00[AMR][1000 genomes]
rs73348091	1.00[AMR][1000 genomes]
rs73348098	1.00[AMR][1000 genomes]
rs73348284	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348291	1.00[AMR][1000 genomes]
rs73349823	1.00[AMR][1000 genomes]
rs73350014	1.00[AMR][1000 genomes]
rs73352208	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73352236	1.00[AMR][1000 genomes]
rs73352240	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73352243	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73353653	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription 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	57 gene(s)	inside rSNPs	diseases
2	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1045869	chr14:45415597-45487903	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1259	chr14:45419323-45444660	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45428400-45436600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:45428800-45443400	Active TSS	GM12878-XiMat	blood
3	chr14:45429200-45436800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:45429600-45437000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr14:45429600-45437400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:45429800-45436600	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr14:45431600-45437200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:45433000-45437000	Active TSS	Fetal Intestine Small	intestine
9	chr14:45433400-45436800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:45433400-45437000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:45433400-45437200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr14:45433600-45437200	Active TSS	Stomach Smooth Muscle	stomach
13	chr14:45433600-45437800	Weak transcription	Esophagus	oesophagus
14	chr14:45433600-45439000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:45433800-45440200	Weak transcription	Placenta	Placenta
16	chr14:45434200-45441000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:45434400-45437400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:45434400-45438800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr14:45434600-45436800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:45434600-45437000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr14:45434600-45465000	Weak transcription	Fetal Thymus	thymus
22	chr14:45434800-45437000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr14:45434800-45437000	Enhancers	Small Intestine	intestine
24	chr14:45435000-45437000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr14:45435400-45436600	Active TSS	Rectal Smooth Muscle	rectum
26	chr14:45435600-45436400	Flanking Active TSS	Fetal Brain Female	brain
27	chr14:45435600-45437000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:45435600-45437200	Active TSS	Right Atrium	heart
29	chr14:45435800-45436400	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr14:45435800-45436400	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr14:45435800-45436600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr14:45435800-45436800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:45435800-45436800	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr14:45435800-45436800	Flanking Active TSS	HepG2	liver
35	chr14:45435800-45437000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr14:45435800-45437000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr14:45435800-45437000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr14:45435800-45437400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:45435800-45437400	Flanking Active TSS	Dnd41	blood
40	chr14:45435800-45438200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr14:45436000-45436400	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr14:45436000-45436400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:45436000-45436400	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr14:45436000-45436400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:45436000-45436400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:45436000-45436400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:45436000-45436400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:45436000-45436400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:45436000-45436400	Enhancers	Fetal Heart	heart
50	chr14:45436000-45436400	Flanking Active TSS	Ovary	ovary

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