Variant report

Variant	rs16919694
Chromosome Location	chr8:54853102-54853103
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr8:54853026-54853191	GM12878	blood:	n/a	chr8:54853126-54853135 chr8:54853124-54853137 chr8:54853125-54853136 chr8:54853126-54853136 chr8:54853126-54853135
2	POLR2A	chr8:54852812-54853634	A549	lung:	n/a	n/a

Variant related genes	Relation type
RGS20	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10504159	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11984932	1.00[CEU][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992921	1.00[CEU][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1483537	1.00[CEU][hapmap]
rs16919584	1.00[CEU][hapmap]
rs16919648	1.00[CEU][hapmap]
rs16919650	1.00[CEU][hapmap]
rs16919652	1.00[CEU][hapmap]
rs16919653	1.00[CEU][hapmap]
rs16919658	1.00[CEU][hapmap]
rs16919683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1905359	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2128816	1.00[CEU][hapmap]
rs2128817	1.00[CEU][hapmap]
rs2128819	1.00[CEU][hapmap]
rs55938755	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56788440	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56863500	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56900698	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57122000	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57381301	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58070188	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58344188	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58564664	0.87[ASN][1000 genomes]
rs58603618	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58780122	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59371117	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59537268	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59633885	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60060985	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60067061	0.87[ASN][1000 genomes]
rs61054351	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473896	1.00[CEU][hapmap]
rs7005604	1.00[CEU][hapmap]
rs73680368	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680370	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680373	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73680374	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7821073	1.00[CEU][hapmap]
rs7838182	1.00[CEU][hapmap]
rs936685	1.00[CEU][hapmap]

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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54845000-54857600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:54847800-54855600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:54850000-54857400	Weak transcription	Brain Anterior Caudate	brain
4	chr8:54850400-54856000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:54851000-54856000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:54851200-54853600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:54851200-54854000	ZNF genes & repeats	HMEC	breast
8	chr8:54851200-54872600	Weak transcription	Brain Germinal Matrix	brain
9	chr8:54851400-54853800	ZNF genes & repeats	NHEK	skin
10	chr8:54851400-54855000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:54851600-54854000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:54851600-54854400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:54851600-54855400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:54851800-54853200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:54851800-54853400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:54852000-54853400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:54852000-54853800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:54852200-54853200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:54852200-54853800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:54852200-54872600	Weak transcription	Fetal Brain Female	brain
21	chr8:54852400-54853200	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:54852400-54854000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:54852400-54854000	Strong transcription	A549	lung
24	chr8:54852400-54872600	Weak transcription	Esophagus	oesophagus
25	chr8:54852600-54856200	Weak transcription	NHDF-Ad	bronchial
26	chr8:54852800-54853400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:54852800-54853800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:54853000-54853800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:54853000-54853800	Strong transcription	NHLF	lung

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