Variant report

Variant	rs6865251
Chromosome Location	chr5:8464461-8464462
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1031263	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs341873	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs438225	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6868734	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73740008	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73740014	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033505	chr5:8258074-8657627	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv537634	chr5:8258074-8657627	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1026496	chr5:8275119-8681693	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
4	nsv537635	chr5:8275119-8681693	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
5	nsv427709	chr5:8353876-8519855	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv881034	chr5:8376813-8499567	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1025309	chr5:8399380-8466098	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8458400-8468400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:8458600-8468400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:8458600-8468400	Weak transcription	Esophagus	oesophagus
4	chr5:8458600-8468400	Weak transcription	Pancreas	Pancrea
5	chr5:8459000-8464600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:8459000-8465000	Weak transcription	Brain Anterior Caudate	brain
7	chr5:8459200-8464800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:8459200-8464800	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:8459200-8465600	Weak transcription	Right Ventricle	heart
10	chr5:8459800-8470200	Weak transcription	Aorta	Aorta
11	chr5:8461800-8464600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:8462400-8466200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:8462800-8465800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:8463000-8464800	Weak transcription	Brain Germinal Matrix	brain
15	chr5:8463000-8464800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:8463000-8468000	Weak transcription	Left Ventricle	heart
17	chr5:8463400-8469600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:8463600-8466200	Enhancers	Stomach Mucosa	stomach

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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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