Variant report

Variant	rs28678814
Chromosome Location	chr8:116221918-116221919
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10046778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10103462	1.00[AFR][1000 genomes]
rs10110483	1.00[AMR][1000 genomes]
rs28404244	1.00[AFR][1000 genomes]
rs28499267	1.00[AMR][1000 genomes]
rs28625091	1.00[AMR][1000 genomes]
rs28718830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28804525	1.00[AFR][1000 genomes];1.00[AMR][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	nsv611976	chr8:115261134-116223865	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv891373	chr8:115351857-116295809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv891395	chr8:115642536-116222842	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv891399	chr8:116037798-116295809	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv891400	chr8:116139213-116373329	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv831431	chr8:116209344-116402304	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1024074	chr8:116211511-116387442	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:116215400-116231400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:116219600-116230400	Weak transcription	Dnd41	blood
3	chr8:116219800-116222200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr8:116220200-116222400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr8:116220400-116222600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr8:116220800-116222000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr8:116221200-116222400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr8:116221200-116222400	Enhancers	Primary B cells from cord blood	blood
9	chr8:116221200-116222400	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:116221600-116223600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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