Variant report

Variant	rs28699279
Chromosome Location	chr8:116196395-116196396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs57187120	1.00[AMR][1000 genomes]
rs57870061	1.00[AMR][1000 genomes]
rs73366349	1.00[AMR][1000 genomes]
rs73370742	1.00[AMR][1000 genomes]
rs73370746	1.00[AMR][1000 genomes]
rs73370751	1.00[AMR][1000 genomes]
rs73370752	1.00[AMR][1000 genomes]
rs73370756	1.00[AMR][1000 genomes]
rs73370759	1.00[AMR][1000 genomes]
rs73370763	1.00[AMR][1000 genomes]
rs73370767	1.00[AMR][1000 genomes]
rs73370769	1.00[AMR][1000 genomes]
rs73370773	1.00[AMR][1000 genomes]
rs73370788	1.00[AMR][1000 genomes]
rs73370796	1.00[AMR][1000 genomes]
rs73703159	1.00[AMR][1000 genomes]
rs73703168	1.00[AMR][1000 genomes]
rs73703180	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	nsv1022357	chr8:116162223-116198759	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3385978	chr8:116192276-116197274	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:116185600-116197400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:116190800-116197400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:116195800-116196800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:116195800-116197800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:116196000-116196800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:116196000-116197200	Enhancers	GM12878-XiMat	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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