Variant report

Variant	rs11985594
Chromosome Location	chr8:99910543-99910544
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11985761	1.00[AMR][1000 genomes]
rs11986313	1.00[AMR][1000 genomes]
rs11987144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11990602	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11991346	1.00[AMR][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	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr8:99897600-99913800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:99904600-99913600	Weak transcription	HSMMtube	muscle
3	chr8:99904800-99914600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:99905000-99913200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:99908800-99914000	Weak transcription	HSMM	muscle
6	chr8:99910000-99911000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:99910000-99911600	Enhancers	Colon Smooth Muscle	Colon
8	chr8:99910200-99911600	Enhancers	Rectal Smooth Muscle	rectum
9	chr8:99910200-99911600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr8:99910200-99911600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:99910200-99912000	Enhancers	Ovary	ovary
12	chr8:99910400-99910600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:99910400-99911000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:99910400-99911600	Enhancers	Fetal Muscle Leg	muscle
15	chr8:99910400-99912000	Enhancers	Psoas Muscle	Psoas

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

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