Variant report

Variant	rs60578285
Chromosome Location	chr21:15457713-15457714
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10854277	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10854278	0.85[AMR][1000 genomes]
rs10854279	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11087909	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11087910	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12483211	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12483328	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12483373	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2226731	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2822399	0.80[EUR][1000 genomes]
rs28575716	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35777238	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4816224	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4816225	0.92[AFR][1000 genomes]
rs4816941	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4816942	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4816945	0.82[EUR][1000 genomes]
rs55930907	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56809490	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56964975	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57368517	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58106611	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58814444	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59363534	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60702377	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60707485	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62208560	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62208575	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62208581	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs62208582	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62208583	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62208584	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62208585	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62208586	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62208587	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62208588	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62208589	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62211266	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62211267	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6516610	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7275860	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7275968	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7276133	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7276424	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7276925	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7277769	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7277845	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7280792	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7281456	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7281918	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7282128	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73342118	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8126892	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8130626	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8131762	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8132276	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9789852	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9789885	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1067433	chr21:14736298-15507502	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1055396	chr21:14756514-15507502	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1062639	chr21:14775729-15507502	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv1058072	chr21:15372509-15568171	Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1056787	chr21:15407504-15530291	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1831533	chr21:15442382-15477876	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
8	esv1827667	chr21:15442582-15521121	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1827538	chr21:15446711-15472381	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	n/a
10	esv990249	chr21:15446864-15471276	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
11	esv1830377	chr21:15446911-15477676	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	n/a
12	esv1830288	chr21:15448891-15474325	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	n/a
13	esv32571	chr21:15456265-15467954	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15441000-15470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:15444200-15475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:15445200-15458800	Weak transcription	Right Atrium	heart
4	chr21:15452000-15458000	ZNF genes & repeats	Fetal Stomach	stomach
5	chr21:15455600-15457800	ZNF genes & repeats	Fetal Brain Female	brain
6	chr21:15455800-15457800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:15455800-15457800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:15455800-15460200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr21:15455800-15479800	Weak transcription	Colon Smooth Muscle	Colon
10	chr21:15456000-15458000	ZNF genes & repeats	Brain Germinal Matrix	brain
11	chr21:15456000-15470000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr21:15456200-15457800	ZNF genes & repeats	Thymus	Thymus
13	chr21:15456400-15462000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:15456800-15470200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr21:15457000-15458000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:15457000-15467600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr21:15457400-15461000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:15457400-15463800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr21:15457400-15464000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr21:15457400-15465200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:15457600-15458400	Weak transcription	GM12878-XiMat	blood
22	chr21:15457600-15458600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr21:15457600-15458800	Weak transcription	Dnd41	blood
24	chr21:15457600-15459200	Weak transcription	Fetal Lung	lung
25	chr21:15457600-15459200	Weak transcription	Ovary	ovary
26	chr21:15457600-15459600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr21:15457600-15460200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr21:15457600-15460600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr21:15457600-15462400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:15457600-15463800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr21:15457600-15464000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr21:15457600-15464800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:15457600-15465200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr21:15457600-15465200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:15457600-15465200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:15457600-15465400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr21:15457600-15465400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr21:15457600-15465800	Weak transcription	Hela-S3	cervix
39	chr21:15457600-15470000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr21:15457600-15470200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr21:15457600-15470200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr21:15457600-15470200	Weak transcription	Adipose Nuclei	Adipose
43	chr21:15457600-15470200	Weak transcription	Esophagus	oesophagus
44	chr21:15457600-15472800	Weak transcription	Fetal Muscle Leg	muscle
45	chr21:15457600-15473800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr21:15457600-15487400	Weak transcription	Fetal Brain Male	brain

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