Variant report

Variant	rs2283371
Chromosome Location	chr14:73015668-73015669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2238169	0.90[CHB][hapmap]
rs2239222	0.89[ASW][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2283374	0.90[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7141877	0.94[CHB][hapmap]
rs7146783	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2283371	DCAF5	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:73009000-73016400	Enhancers	HSMMtube	muscle
2	chr14:73009600-73016800	Enhancers	Fetal Muscle Leg	muscle
3	chr14:73011800-73016000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:73011800-73016400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr14:73012000-73025200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:73012200-73019000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr14:73012200-73019000	Weak transcription	Right Atrium	heart
8	chr14:73012200-73019600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:73012200-73019800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:73012200-73025600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:73012400-73016000	Weak transcription	Placenta	Placenta
12	chr14:73012400-73018600	Weak transcription	Fetal Stomach	stomach
13	chr14:73012400-73019600	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:73012400-73032000	Weak transcription	Brain Germinal Matrix	brain
15	chr14:73012600-73015800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:73012800-73015800	Weak transcription	NH-A	brain
17	chr14:73013000-73015800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:73013200-73017000	Weak transcription	HMEC	breast
19	chr14:73013400-73016800	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:73013800-73015800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:73013800-73016600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:73013800-73025000	Weak transcription	Fetal Brain Female	brain
23	chr14:73014000-73016000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:73014000-73016000	Weak transcription	Psoas Muscle	Psoas
25	chr14:73014000-73016600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr14:73014000-73019600	Weak transcription	Left Ventricle	heart
27	chr14:73014000-73020000	Weak transcription	Brain Angular Gyrus	brain
28	chr14:73014600-73019400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:73014800-73016000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr14:73014800-73026200	Weak transcription	Right Ventricle	heart
31	chr14:73015000-73017000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr14:73015000-73019800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:73015200-73018600	Weak transcription	Fetal Heart	heart
34	chr14:73015400-73015800	Weak transcription	Fetal Brain Male	brain
35	chr14:73015400-73016000	Enhancers	Spleen	Spleen
36	chr14:73015600-73015800	Flanking Active TSS	HSMM	muscle
37	chr14:73015600-73016400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:73015600-73017000	Enhancers	Muscle Satellite Cultured Cells	--

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