Variant report

Variant	rs17189393
Chromosome Location	chr2:53663698-53663699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12713250	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1521937	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1521946	0.93[ASN][1000 genomes]
rs35094278	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36106777	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6545346	0.89[ASN][1000 genomes]
rs6705735	0.85[JPT][hapmap]
rs6747724	0.85[JPT][hapmap]

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	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3383918	chr2:53585059-53710179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv984438	chr2:53649278-53685651	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53659000-53664400	Weak transcription	Hela-S3	cervix
2	chr2:53660400-53663800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:53660600-53664800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:53661600-53666200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:53662400-53664200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:53662600-53667600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:53662600-53669400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:53663000-53669200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:53663200-53664000	Weak transcription	Fetal Brain Female	brain
10	chr2:53663400-53663800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:53663400-53664400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:53663600-53663800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:53663600-53668800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:53663600-53669000	Weak transcription	iPS-18 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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