Variant report

Variant	rs38119
Chromosome Location	chr7:78257877-78257878
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]
rs161285	0.94[ASN][1000 genomes]
rs191181	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs319863	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs321975	0.81[JPT][hapmap]
rs38096	0.95[JPT][hapmap]
rs38099	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs38100	0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38102	0.84[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs38105	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38108	1.00[CEU][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38111	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38113	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs38115	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs38117	0.91[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[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	chr7:78219000-78258600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:78252600-78266400	Weak transcription	Aorta	Aorta
3	chr7:78254200-78268800	Weak transcription	Brain Germinal Matrix	brain
4	chr7:78255800-78258600	Enhancers	Brain Cingulate Gyrus	brain
5	chr7:78256400-78258600	Enhancers	Brain Anterior Caudate	brain
6	chr7:78256400-78258800	Enhancers	Brain Hippocampus Middle	brain
7	chr7:78257000-78264600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:78257400-78258400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:78257400-78258600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:78257600-78258000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:78257600-78263600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:78257600-78266200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:78257800-78258200	Weak transcription	Brain Angular Gyrus	brain
14	chr7:78257800-78258200	Weak transcription	Brain Substantia Nigra	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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