Variant report

Variant	rs17004454
Chromosome Location	chr21:15470923-15470924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58987144	0.85[AFR][1000 genomes]
rs62209954	0.85[AFR][1000 genomes]
rs9974430	0.85[AFR][1000 genomes]
rs9977027	0.85[AFR][1000 genomes]
rs9984797	0.85[AFR][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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15444200-15475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:15455800-15479800	Weak transcription	Colon Smooth Muscle	Colon
3	chr21:15457600-15472800	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:15457600-15473800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr21:15457600-15487400	Weak transcription	Fetal Brain Male	brain
6	chr21:15457800-15486200	Weak transcription	Thymus	Thymus
7	chr21:15462400-15471400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:15463200-15472200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:15465800-15475400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:15466000-15474800	Weak transcription	Fetal Stomach	stomach
11	chr21:15467600-15477000	Strong transcription	Dnd41	blood
12	chr21:15468000-15472200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr21:15468000-15475400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:15468000-15477000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr21:15468200-15475200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr21:15468400-15475200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr21:15468600-15476600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:15469000-15471000	Strong transcription	Brain Germinal Matrix	brain
19	chr21:15469800-15471000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:15470000-15471000	Strong transcription	Fetal Brain Female	brain
21	chr21:15470400-15487200	Weak transcription	Ovary	ovary
22	chr21:15470600-15472000	Weak transcription	Gastric	stomach
23	chr21:15470600-15475600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr21:15470600-15476200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr21:15470600-15480000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:15470800-15471200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr21:15470800-15471200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr21:15470800-15471200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr21:15470800-15471200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr21:15470800-15471600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr21:15470800-15472000	Weak transcription	Esophagus	oesophagus
32	chr21:15470800-15472400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr21:15470800-15472400	Weak transcription	K562	blood
34	chr21:15470800-15473000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr21:15470800-15473600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr21:15470800-15475000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr21:15470800-15475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr21:15470800-15475400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr21:15470800-15475800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr21:15470800-15476000	Weak transcription	Adipose Nuclei	Adipose
41	chr21:15470800-15476600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr21:15470800-15476800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr21:15470800-15477000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr21:15470800-15477800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr21:15470800-15483600	Weak transcription	Fetal Lung	lung
46	chr21:15470800-15484800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr21:15470800-15486200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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