Variant report

Variant	rs319863
Chromosome Location	chr7:78265298-78265299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs161285	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs191181	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs321975	0.81[JPT][hapmap]
rs38096	0.95[JPT][hapmap]
rs38100	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs38102	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs38105	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs38108	0.88[CEU][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs38111	0.87[CEU][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs38113	0.85[ASN][1000 genomes]
rs38115	0.88[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38117	0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs38119	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[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	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78252600-78266400	Weak transcription	Aorta	Aorta
2	chr7:78254200-78268800	Weak transcription	Brain Germinal Matrix	brain
3	chr7:78257600-78266200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:78263400-78265600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:78263600-78265400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:78264000-78266200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:78264000-78266200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:78264000-78266200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:78264000-78269000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:78265200-78266200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:78265200-78268400	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:78265200-78269000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:78265200-78269000	Weak transcription	Brain Substantia Nigra	brain
14	chr7:78265200-78269200	Weak transcription	Brain Anterior Caudate	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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