Variant report

Variant	rs2285883
Chromosome Location	chr14:69043970-69043971
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68924227..68926055-chr14:69043237..69046222,3	MCF-7	breast:
2	chr14:69037050..69041400-chr14:69041759..69045325,4	MCF-7	breast:
3	chr14:69042225..69044616-chr14:69056393..69058325,2	MCF-7	breast:
4	chr14:69040226..69045730-chr14:69257652..69262741,8	MCF-7	breast:
5	chr14:69042594..69046267-chr14:69258129..69261368,4	MCF-7	breast:
6	chr14:68943293..68946100-chr14:69042850..69045174,2	MCF-7	breast:
7	chr14:69043815..69046176-chr14:69072899..69075411,2	MCF-7	breast:
8	chr14:69043150..69045216-chr14:69050685..69052900,2	MCF-7	breast:
9	chr14:69043397..69045562-chr14:69085788..69088006,2	MCF-7	breast:
10	chr14:68932415..68937640-chr14:69040451..69046051,7	MCF-7	breast:
11	chr14:69033011..69036090-chr14:69041393..69045168,4	MCF-7	breast:
12	chr14:69043850..69046166-chr14:69253123..69255175,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10148414	0.82[ASN][1000 genomes]
rs17105872	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902603	0.82[ASN][1000 genomes]
rs55987972	1.00[ASN][1000 genomes]
rs7146456	0.87[CHB][hapmap];0.83[JPT][hapmap];0.93[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	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2285883	FUT8	cis	cerebellum	SCAN
rs2285883	C14orf50	cis	parietal	SCAN
rs2285883	SRSF5	cis	parietal	SCAN
rs2285883	SNORD56B	cis	parietal	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69036800-69052000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:69037000-69052600	Weak transcription	Colonic Mucosa	Colon
3	chr14:69037400-69054000	Weak transcription	Fetal Kidney	kidney
4	chr14:69039200-69044400	Weak transcription	Liver	Liver
5	chr14:69040600-69045600	Enhancers	Adipose Nuclei	Adipose
6	chr14:69041000-69047800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr14:69041000-69048200	Enhancers	Placenta	Placenta
8	chr14:69041200-69045200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:69041200-69048200	Enhancers	HSMMtube	muscle
10	chr14:69041400-69045400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:69041400-69045600	Enhancers	Osteobl	bone
12	chr14:69041400-69045800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:69041400-69046400	Enhancers	NHDF-Ad	bronchial
14	chr14:69041400-69047200	Enhancers	HSMM	muscle
15	chr14:69041400-69047600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:69041400-69048000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:69041600-69044000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:69041600-69044600	Enhancers	NH-A	brain
19	chr14:69041600-69044800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:69041600-69045800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:69041600-69045800	Enhancers	HMEC	breast
22	chr14:69041600-69046000	Enhancers	HUVEC	blood vessel
23	chr14:69041600-69046400	Enhancers	NHLF	lung
24	chr14:69041800-69044400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:69041800-69044400	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:69041800-69044800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:69041800-69046000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:69041800-69046000	Enhancers	HepG2	liver
29	chr14:69042000-69044800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr14:69042000-69045800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:69042000-69045800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:69042000-69046000	Weak transcription	Fetal Thymus	thymus
33	chr14:69042000-69050400	Weak transcription	Ovary	ovary
34	chr14:69042000-69052000	Weak transcription	Brain Anterior Caudate	brain
35	chr14:69042200-69044400	Weak transcription	Fetal Lung	lung
36	chr14:69042200-69047000	Weak transcription	Small Intestine	intestine
37	chr14:69042200-69053800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:69042400-69045600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:69042400-69046400	Weak transcription	Fetal Stomach	stomach
40	chr14:69042600-69044800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:69042600-69045000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr14:69042800-69044000	Enhancers	Esophagus	oesophagus
43	chr14:69042800-69044400	Enhancers	Pancreas	Pancrea
44	chr14:69042800-69044600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr14:69042800-69045000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr14:69042800-69045400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:69042800-69045600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:69042800-69045800	Enhancers	Left Ventricle	heart
49	chr14:69043000-69046400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr14:69043000-69046600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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