Variant report

Variant	rs17001498
Chromosome Location	chr21:18425772-18425773
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2824165	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	esv2751924	chr21:18169497-18541529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834053	chr21:18369514-18500929	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1061103	chr21:18401879-18445026	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:18422000-18425800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr21:18422200-18426600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:18424400-18431600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:18424800-18425800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:18424800-18425800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr21:18425000-18425800	Weak transcription	Brain Germinal Matrix	brain
7	chr21:18425000-18426000	Enhancers	HUVEC	blood vessel
8	chr21:18425000-18426600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr21:18425400-18426000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr21:18425400-18426000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:18425400-18426000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr21:18425400-18426000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr21:18425400-18426000	Enhancers	Fetal Brain Male	brain
14	chr21:18425600-18425800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:18425600-18425800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr21:18425600-18426600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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