Variant report

Variant	rs62208601
Chromosome Location	chr21:15470103-15470104
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11700639	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11701280	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11701285	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11701370	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11701819	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11701850	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1974406	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2155968	0.82[ASN][1000 genomes]
rs28890299	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4493342	0.82[ASN][1000 genomes]
rs56226248	1.00[AFR][1000 genomes]
rs58578671	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58987144	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62208561	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62208568	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62208569	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62208572	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62208600	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62208602	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62208604	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62208629	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62208631	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62208632	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62208633	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62208634	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62208635	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62208637	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62208638	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62208639	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62208640	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62209954	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62209955	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62209957	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62209958	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73151525	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73151579	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73155511	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73155515	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73155577	0.82[ASN][1000 genomes]
rs73155578	0.82[ASN][1000 genomes]
rs73155581	0.82[ASN][1000 genomes]
rs9974430	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9977027	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9981120	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9981550	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9984797	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9984910	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv962667	chr21:15468206-15478776	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	inside rSNPs	n/a
14	esv3411056	chr21:15468281-15472679	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:50 , 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	chr21:15455800-15479800	Weak transcription	Colon Smooth Muscle	Colon
4	chr21:15456800-15470200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr21:15457600-15470200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:15457600-15470200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr21:15457600-15470200	Weak transcription	Adipose Nuclei	Adipose
8	chr21:15457600-15470200	Weak transcription	Esophagus	oesophagus
9	chr21:15457600-15472800	Weak transcription	Fetal Muscle Leg	muscle
10	chr21:15457600-15473800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr21:15457600-15487400	Weak transcription	Fetal Brain Male	brain
12	chr21:15457800-15486200	Weak transcription	Thymus	Thymus
13	chr21:15459800-15470200	Weak transcription	Ovary	ovary
14	chr21:15460000-15470200	Weak transcription	Fetal Lung	lung
15	chr21:15461000-15470200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr21:15462400-15471400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr21:15463200-15470200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr21:15463200-15472200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:15463400-15470200	Weak transcription	Gastric	stomach
20	chr21:15464400-15470200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr21:15464600-15470200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:15464800-15470200	Weak transcription	K562	blood
23	chr21:15465800-15475400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:15466000-15474800	Weak transcription	Fetal Stomach	stomach
25	chr21:15467600-15470800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr21:15467600-15477000	Strong transcription	Dnd41	blood
27	chr21:15467800-15470200	Weak transcription	Brain Angular Gyrus	brain
28	chr21:15468000-15472200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr21:15468000-15475400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:15468000-15477000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr21:15468200-15470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr21:15468200-15470400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr21:15468200-15475200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr21:15468400-15470800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr21:15468400-15475200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr21:15468600-15470200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:15468600-15476600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr21:15468800-15470800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr21:15469000-15471000	Strong transcription	Brain Germinal Matrix	brain
40	chr21:15469200-15470600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr21:15469400-15470800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr21:15469800-15470600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr21:15469800-15470800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr21:15469800-15471000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr21:15470000-15470200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr21:15470000-15470200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr21:15470000-15470200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr21:15470000-15470800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr21:15470000-15470800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr21:15470000-15471000	Strong transcription	Fetal Brain Female	brain

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