Variant report

Variant	rs61657947
Chromosome Location	chr21:17614751-17614752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12106485	1.00[AMR][1000 genomes]
rs16994876	1.00[AMR][1000 genomes]
rs60019141	1.00[AFR][1000 genomes]
rs73893217	1.00[AMR][1000 genomes]
rs73893222	1.00[AMR][1000 genomes]

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	nsv432145	chr21:17559229-17628529	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17584400-17619400	Weak transcription	Hela-S3	cervix
2	chr21:17598000-17622200	Weak transcription	Ovary	ovary
3	chr21:17598000-17622400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:17606200-17622200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr21:17612600-17618800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:17613400-17614800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr21:17613800-17614800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr21:17613800-17614800	Flanking Active TSS	HUVEC	blood vessel
9	chr21:17614000-17614800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr21:17614000-17620600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr21:17614200-17614800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:17614200-17615400	Weak transcription	Brain Substantia Nigra	brain
13	chr21:17614400-17614800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr21:17614400-17614800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
15	chr21:17614400-17615000	Weak transcription	Brain Anterior Caudate	brain
16	chr21:17614400-17615600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:17614400-17616000	Enhancers	Primary hematopoietic stem cells	blood
18	chr21:17614400-17616000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr21:17614400-17622400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr21:17614400-17622600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr21:17614600-17614800	Flanking Active TSS	A549	lung
22	chr21:17614600-17617200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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