Variant report

Variant	rs6994998
Chromosome Location	chr8:63699284-63699285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1021012	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10504354	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957233	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10957234	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11777750	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12543703	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1319275	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13275702	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1383156	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2352718	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6472051	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7839173	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs899675	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs975688	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[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	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv831340	chr8:63515126-63702660	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv831341	chr8:63658694-63852213	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63698000-63699800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:63698200-63699600	Enhancers	Brain Germinal Matrix	brain
3	chr8:63698400-63699600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:63698600-63699600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:63698600-63699800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:63699000-63699400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr8:63699000-63699400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:63699000-63699400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:63699000-63699600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:63699000-63699800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:63699200-63699600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:63699200-63699600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:63699200-63699600	Enhancers	Fetal Brain Female	brain

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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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