Variant report

Variant	rs16890925
Chromosome Location	chr8:119395641-119395642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr8:119395344-119395882	A549	lung:	n/a	n/a
2	FOSL2	chr8:119395303-119396018	A549	lung:	n/a	chr8:119395324-119395333
3	POLR2A	chr8:119395341-119395837	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr8:119395496-119395738	HUVEC	blood vessel:	n/a	n/a
5	USF1	chr8:119395410-119395821	A549	lung:	n/a	n/a
6	FOXA2	chr8:119395277-119395852	A549	lung:	n/a	n/a
7	STAT3	chr8:119395602-119395653	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr8:119395403-119395651	HUVEC	blood vessel:	n/a	n/a
9	NR3C1	chr8:119395420-119395846	A549	lung:	n/a	n/a
10	FOXA1	chr8:119395306-119395869	A549	lung:	n/a	n/a
11	NR3C1	chr8:119395375-119395875	A549	lung:	n/a	n/a
12	FOS	chr8:119395494-119395751	MCF10A-Er-Src	breast:	n/a	n/a
13	SP1	chr8:119395204-119396017	A549	lung:	n/a	n/a
14	NR3C1	chr8:119395412-119395791	A549	lung:	n/a	n/a
15	TCF12	chr8:119395280-119396005	A549	lung:	n/a	n/a
16	GATA2	chr8:119395443-119396963	HUVEC	blood vessel:	n/a	n/a
17	MAX	chr8:119395262-119396008	A549	lung:	n/a	n/a
18	POLR2A	chr8:119395358-119395974	HUVEC	blood vessel:	n/a	n/a
19	FOS	chr8:119395364-119395845	HUVEC	blood vessel:	n/a	n/a
20	NR3C1	chr8:119395345-119395874	A549	lung:	n/a	n/a
21	NR3C1	chr8:119395380-119395664	A549	lung:	n/a	n/a
22	SP1	chr8:119395319-119395849	A549	lung:	n/a	n/a
23	NR3C1	chr8:119395274-119395889	A549	lung:	n/a	n/a
24	FOS	chr8:119395573-119395746	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr8:119395520-119395719	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr8:119395448-119395774	MCF10A-Er-Src	breast:	n/a	n/a
27	FOXA2	chr8:119395367-119395829	A549	lung:	n/a	n/a

No data

Variant related genes	Relation type
SAMD12	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10086502	1.00[CHD][hapmap]
rs16890916	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16890917	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4876823	1.00[CHD][hapmap]
rs4876824	1.00[CHD][hapmap]
rs4876827	1.00[CHD][hapmap]
rs59611113	0.87[AMR][1000 genomes]
rs73325686	0.87[AMR][1000 genomes]
rs73325687	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73325688	0.87[AMR][1000 genomes]
rs73325692	0.87[AMR][1000 genomes]
rs73325697	0.87[AMR][1000 genomes]
rs73325699	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73327518	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327539	0.85[AMR][1000 genomes]
rs73327541	0.85[AMR][1000 genomes]
rs73709942	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs744079	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs744082	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs747033	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][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	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119359600-119398600	Weak transcription	Lung	lung
2	chr8:119362800-119398200	Weak transcription	GM12878-XiMat	blood
3	chr8:119383000-119399400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:119385200-119399000	Weak transcription	Brain Angular Gyrus	brain
5	chr8:119387200-119399800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:119390400-119404000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:119391600-119399000	Weak transcription	Aorta	Aorta
8	chr8:119391800-119397000	Enhancers	HUVEC	blood vessel
9	chr8:119392600-119398000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:119392600-119398200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:119392600-119398800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:119392800-119396400	Weak transcription	HMEC	breast
13	chr8:119394000-119396800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr8:119394200-119397400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:119394400-119397400	Enhancers	NHEK	skin
16	chr8:119394400-119399000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:119394600-119395800	Weak transcription	Fetal Intestine Small	intestine
18	chr8:119394600-119397200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:119394800-119395800	Weak transcription	Gastric	stomach
20	chr8:119394800-119396000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:119394800-119400200	Enhancers	Liver	Liver
22	chr8:119394800-119402600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:119395200-119396600	Enhancers	Fetal Intestine Large	intestine
24	chr8:119395400-119395800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:119395400-119395800	Enhancers	HepG2	liver
26	chr8:119395400-119396400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:119395400-119396400	Enhancers	Pancreas	Pancrea
28	chr8:119395400-119397200	Enhancers	Stomach Mucosa	stomach
29	chr8:119395600-119396000	Enhancers	Fetal Kidney	kidney
30	chr8:119395600-119396000	Flanking Active TSS	A549	lung
31	chr8:119395600-119396800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:119395600-119397000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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