Variant report

Variant	rs11995039
Chromosome Location	chr8:113780319-113780320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11985496	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993017	0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16883975	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16884126	1.00[AMR][1000 genomes]
rs16884129	1.00[AMR][1000 genomes]
rs57873127	0.91[AFR][1000 genomes]
rs58296437	0.91[AFR][1000 genomes]
rs59464748	0.91[AFR][1000 genomes]
rs60598285	0.91[AFR][1000 genomes]
rs61428202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73702203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73702223	0.91[AFR][1000 genomes]
rs73702225	0.91[AFR][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	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv534270	chr8:113585830-113979075	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
5	esv2754315	chr8:113736824-114048824	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv524089	chr8:113761143-113852777	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv891326	chr8:113777669-114091732	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113773200-113783400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:113773400-113783400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:113773600-113783400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:113774200-113783400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:113779200-113783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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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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