Variant report

Variant	rs28475743
Chromosome Location	chr14:65689005-65689006
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:65688460..65689522-chr14:65878564..65879464,3	MCF-7	breast:
2	chr14:65687978..65690881-chr14:65733392..65735746,2	MCF-7	breast:
3	chr14:65682951..65699539-chr14:65874873..65882779,51	MCF-7	breast:
4	chr14:65687538..65689210-chr14:65800729..65803430,2	MCF-7	breast:
5	chr14:65685385..65700060-chr14:65874568..65884730,76	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAX-1	chr14:65688937-65689065	ENSG00000255002
2	lnc-MAX-1	chr14:65688937-65689065	XLOC_011053

No data

Variant related genes	Relation type
ENSG00000258613	Chromatin interaction
ENSG00000214759	Chromatin interaction
ENSG00000266740	Chromatin interaction
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10133129	0.91[ASN][1000 genomes]
rs10144720	0.91[ASN][1000 genomes]
rs12147550	0.84[EUR][1000 genomes]
rs1531694	0.81[ASN][1000 genomes]
rs2275011	0.86[ASN][1000 genomes]
rs2275012	0.86[ASN][1000 genomes]
rs28440787	0.91[ASN][1000 genomes]
rs28557069	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28660318	0.91[ASN][1000 genomes]
rs28698923	0.91[ASN][1000 genomes]
rs59307701	0.91[ASN][1000 genomes]
rs60242721	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv564932	chr14:65660502-65691545	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv564933	chr14:65667546-65710580	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65672800-65691400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:65674000-65691400	Weak transcription	Thymus	Thymus
3	chr14:65678600-65690600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:65682000-65689200	Weak transcription	Right Atrium	heart
5	chr14:65684400-65689400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:65686400-65691400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:65687200-65691600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:65688200-65689200	Enhancers	NHLF	lung
9	chr14:65688200-65689400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:65688200-65690000	Enhancers	Brain Cingulate Gyrus	brain
11	chr14:65688200-65690200	Enhancers	GM12878-XiMat	blood
12	chr14:65688200-65690800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:65688200-65696400	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:65688400-65689200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:65688400-65690400	Enhancers	Brain Anterior Caudate	brain
16	chr14:65688400-65693000	Enhancers	Primary T cells from cord blood	blood
17	chr14:65688600-65689800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:65688600-65689800	Enhancers	Osteobl	bone
19	chr14:65688600-65691400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr14:65688800-65689200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:65688800-65689200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr14:65688800-65689400	Enhancers	A549	lung
23	chr14:65688800-65689600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr14:65688800-65689800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr14:65688800-65690000	Enhancers	Brain Angular Gyrus	brain
26	chr14:65688800-65690000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr14:65688800-65690000	Enhancers	HepG2	liver
28	chr14:65688800-65690600	Enhancers	Stomach Mucosa	stomach
29	chr14:65688800-65690800	Enhancers	Fetal Intestine Large	intestine
30	chr14:65688800-65692800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr14:65689000-65689200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr14:65689000-65689200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:65689000-65689200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr14:65689000-65689200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:65689000-65689200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:65689000-65689200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:65689000-65689200	Enhancers	HMEC	breast
38	chr14:65689000-65689200	Enhancers	HSMM	muscle
39	chr14:65689000-65689400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr14:65689000-65689400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr14:65689000-65689400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:65689000-65689400	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr14:65689000-65689400	Enhancers	Fetal Stomach	stomach
44	chr14:65689000-65689400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr14:65689000-65689400	Enhancers	Psoas Muscle	Psoas
46	chr14:65689000-65689600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr14:65689000-65689600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:65689000-65689600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr14:65689000-65689600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:65689000-65689600	Enhancers	HUVEC	blood vessel

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