Variant report

Variant	rs318907
Chromosome Location	chr8:50892801-50892802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs318891	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318892	0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318895	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318898	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318901	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318904	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318909	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318914	0.91[ASW][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318921	0.91[ASW][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs388045	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs402168	0.85[AFR][1000 genomes]
rs73571312	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1022115	chr8:50864995-50981944	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv611311	chr8:50865230-50980320	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv34788	chr8:50873247-50965438	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3479183	chr8:50873277-50965062	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1033098	chr8:50873293-50965692	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2757272	chr8:50873293-50968942	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3479184	chr8:50873317-50965027	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3479185	chr8:50873317-50965027	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3692982	chr8:50875494-50959622	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1023258	chr8:50877934-50964286	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv818624	chr8:50882830-50945075	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr8:50890200-50893600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:50892000-50894000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:50892200-50893000	Enhancers	Fetal Brain Male	brain
4	chr8:50892600-50893000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:50892600-50893000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:50892600-50893000	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr8:50892600-50893000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr8:50892800-50893000	Enhancers	Brain Anterior Caudate	brain
9	chr8:50892800-50893000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr8:50892800-50893000	Enhancers	Fetal Intestine Small	intestine
11	chr8:50892800-50893000	Enhancers	HMEC	breast
12	chr8:50892800-50893200	Active TSS	Liver	Liver
13	chr8:50892800-50894000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:50892800-50894000	Enhancers	Fetal Intestine Large	intestine

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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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