Variant report

Variant	rs6998816
Chromosome Location	chr8:65195953-65195954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10095433	0.97[AFR][1000 genomes]
rs10102005	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10110750	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11775076	0.81[EUR][1000 genomes]
rs1440140	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1440142	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1440143	0.97[AFR][1000 genomes]
rs28395378	0.97[AFR][1000 genomes]
rs35009220	0.97[AFR][1000 genomes]
rs6982872	0.97[AFR][1000 genomes]
rs6983018	0.81[EUR][1000 genomes]
rs755765	0.97[AFR][1000 genomes]
rs7845826	0.81[EUR][1000 genomes]
rs9886424	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948343	chr8:64804219-65328394	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv890971	chr8:65028814-65242166	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65193600-65196200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:65193800-65196400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:65194200-65196400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr8:65194400-65196400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:65194800-65196400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:65195000-65196000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:65195000-65196400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr8:65195000-65196400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:65195200-65196400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:65195200-65196400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:65195600-65196200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:65195600-65196400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr8:65195600-65196400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:65195600-65196400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:65195800-65196000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr8:65195800-65196200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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