Variant report

Variant	rs12680860
Chromosome Location	chr8:113822987-113822988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10505194	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs16884194	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113817600-113823200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:113819800-113825600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:113821600-113824000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:113821600-113824200	Weak transcription	Fetal Intestine Large	intestine
5	chr8:113821600-113824400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:113822400-113823000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:113822400-113824200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:113822400-113824200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:113822400-113824200	Weak transcription	Fetal Intestine Small	intestine
10	chr8:113822400-113825400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:113822600-113825400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:113822800-113825200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:113822800-113825400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:113822800-113825400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:113822800-113825600	Weak transcription	HUES64 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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