Variant report

Variant	rs2003204
Chromosome Location	chr8:62066169-62066170
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11778157	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12541340	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12545360	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17764366	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17831865	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017819	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116466	0.87[ASN][1000 genomes]
rs2116468	0.87[ASN][1000 genomes]
rs2163609	0.87[ASN][1000 genomes]
rs2931326	0.85[JPT][hapmap]
rs2931327	0.85[JPT][hapmap]
rs4033372	0.81[ASN][1000 genomes]
rs55901932	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56146367	0.81[ASN][1000 genomes]
rs62524553	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs67140761	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822608	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7830680	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv465698	chr8:62036793-62179465	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv611426	chr8:62036793-62179465	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1026243	chr8:62039073-62101123	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62063000-62066200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:62063000-62066200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:62063000-62084600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:62063400-62067400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:62063400-62067600	Weak transcription	GM12878-XiMat	blood
6	chr8:62063600-62067200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:62063800-62066200	Weak transcription	Fetal Brain Female	brain
8	chr8:62065400-62066800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:62065400-62067800	Enhancers	Fetal Brain Male	brain
10	chr8:62065600-62068200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:62065800-62067400	Enhancers	Brain Germinal Matrix	brain
12	chr8:62065800-62067800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:62065800-62068200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:62065800-62068400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:62065800-62068400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:62066000-62067800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:62066000-62068200	Enhancers	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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