Variant report

Variant	rs987778
Chromosome Location	chr8:20046580-20046581
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2645391	1.00[AMR][1000 genomes]
rs4922140	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7460146	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[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	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20040800-20048400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:20042200-20051800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:20043600-20047600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:20043600-20047800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr8:20043800-20047400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:20043800-20047400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:20044400-20047800	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:20045000-20048400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:20045000-20048400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:20045000-20048600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:20045200-20047000	Weak transcription	NHEK	skin
12	chr8:20045200-20048200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:20045200-20048400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:20045800-20047000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:20046400-20046800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:20046400-20047200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
17	chr8:20046400-20047400	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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