Variant report

Variant	rs6991530
Chromosome Location	chr8:39790600-39790601
allele	G/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]
rs11777027	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1808343	0.81[AMR][1000 genomes]
rs1811283	0.92[EUR][1000 genomes]
rs1861903	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1981789	0.91[EUR][1000 genomes]
rs2340953	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2543041	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2729490	0.85[EUR][1000 genomes]
rs4144406	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737159	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6474198	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7000868	0.97[YRI][hapmap]
rs7825461	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7846217	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv508505	chr8:39730094-39791331	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr8:39771600-39797200	Weak transcription	Right Atrium	heart
2	chr8:39783000-39792000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:39783200-39790800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:39785600-39792000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:39785600-39805800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:39785800-39790600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:39785800-39791000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:39785800-39791000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:39785800-39792000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:39786000-39790800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:39786000-39790800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:39786000-39791000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:39788200-39793800	Weak transcription	K562	blood
14	chr8:39790000-39790600	Enhancers	Fetal Lung	lung
15	chr8:39790400-39792400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:39790600-39791000	Weak transcription	Fetal Lung	lung
17	chr8:39790600-39792400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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