Variant report

Variant	rs62459616
Chromosome Location	chr7:70595329-70595330
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]
rs4717581	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4719074	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4719075	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4719077	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5008002	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62458181	1.00[EUR][1000 genomes]
rs62459587	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62459615	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62459617	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62459618	0.91[ASN][1000 genomes]
rs62459619	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62459620	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62459621	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7807036	0.83[AMR][1000 genomes];0.85[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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 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	chr7:70594600-70596000	Bivalent Enhancer	Fetal Muscle Leg	muscle
2	chr7:70594800-70595400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr7:70594800-70595400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:70594800-70595400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:70594800-70595800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:70594800-70596000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:70595000-70595400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr7:70595000-70595600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:70595000-70595800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:70595000-70595800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:70595000-70595800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:70595000-70596000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:70595000-70596000	Enhancers	Fetal Lung	lung
14	chr7:70595200-70595400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:70595200-70595800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:70595200-70595800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:70595200-70596000	Flanking Active TSS	H9 Derived Neuron 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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