Variant report

Variant	rs16900025
Chromosome Location	chr8:90736577-90736578
allele	A/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	MAFK	chr8:90736376-90736666	IMR90	lung:	n/a	n/a
2	MAFK	chr8:90736364-90736626	HepG2	liver:	n/a	n/a
3	NFIC	chr8:90736034-90736757	GM12878	blood:	n/a	n/a
4	FOXM1	chr8:90736167-90736700	GM12878	blood:	n/a	n/a
5	MAFF	chr8:90736410-90736626	HepG2	liver:	n/a	chr8:90736487-90736505
6	RUNX3	chr8:90736193-90736631	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90735006..90737562-chr8:90957378..90959199,2	MCF-7	breast:
2	chr8:90735002..90740593-chr8:90994599..90998168,11	MCF-7	breast:
3	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
4	chr8:90735826..90740064-chr8:90995306..90998250,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251136	TF binding region
ENSG00000104320	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10504882	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10504883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16900480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16900484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16900581	0.87[ASN][1000 genomes]
rs16900589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16900592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16900617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16900677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16900711	0.87[ASN][1000 genomes]
rs2293807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55697113	0.87[ASN][1000 genomes]
rs55702923	0.97[ASN][1000 genomes]
rs55881928	0.87[ASN][1000 genomes]
rs55914077	0.97[ASN][1000 genomes]
rs55945927	0.92[ASN][1000 genomes]
rs56118532	0.97[ASN][1000 genomes]
rs56275901	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs56302550	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56716125	0.97[ASN][1000 genomes]
rs56793332	0.97[ASN][1000 genomes]
rs57701764	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58330617	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58972679	0.97[ASN][1000 genomes]
rs59312383	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59581432	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59678171	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59924471	0.87[ASN][1000 genomes]
rs59941801	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59988473	0.97[ASN][1000 genomes]
rs60183011	0.97[ASN][1000 genomes]
rs60327583	0.85[ASN][1000 genomes]
rs60651842	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60691618	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60772522	0.97[ASN][1000 genomes]
rs60959735	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61017576	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs61044501	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61258433	0.87[ASN][1000 genomes]
rs61450435	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61662505	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6998044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7010806	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs73694459	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73694461	1.00[ASN][1000 genomes]
rs73694462	1.00[ASN][1000 genomes]
rs73694463	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73694485	0.92[ASN][1000 genomes]
rs73694486	0.92[ASN][1000 genomes]
rs73694487	0.87[ASN][1000 genomes]
rs73694488	0.87[ASN][1000 genomes]
rs73694490	0.87[ASN][1000 genomes]
rs73694492	0.87[ASN][1000 genomes]
rs73694493	0.87[ASN][1000 genomes]
rs73694496	0.83[ASN][1000 genomes]
rs7817339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7829418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7839470	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7839478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9721216	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
5	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713200-90741200	Weak transcription	Left Ventricle	heart
2	chr8:90713400-90738000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
4	chr8:90714200-90741400	Weak transcription	Right Ventricle	heart
5	chr8:90714400-90741000	Weak transcription	Gastric	stomach
6	chr8:90715400-90741200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:90716800-90738000	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:90717200-90741000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:90717400-90738000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:90717800-90737800	Weak transcription	NHEK	skin
11	chr8:90717800-90738000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:90717800-90738000	Weak transcription	NH-A	brain
13	chr8:90717800-90747800	Weak transcription	Ovary	ovary
14	chr8:90720800-90742400	Weak transcription	Fetal Lung	lung
15	chr8:90721000-90740000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:90721400-90740400	Weak transcription	Fetal Intestine Large	intestine
17	chr8:90721800-90738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:90725200-90740400	Weak transcription	Small Intestine	intestine
19	chr8:90726600-90741400	Weak transcription	Esophagus	oesophagus
20	chr8:90726800-90738200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:90728400-90738000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:90729200-90737800	Weak transcription	Fetal Heart	heart
23	chr8:90730200-90737800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:90731000-90738200	Weak transcription	K562	blood
25	chr8:90731000-90738400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:90731800-90737000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:90731800-90738000	Weak transcription	NHLF	lung
28	chr8:90731800-90738600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:90732000-90737800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr8:90732000-90737800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr8:90732000-90737800	Weak transcription	NHDF-Ad	bronchial
32	chr8:90732000-90738200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:90732200-90738200	Weak transcription	HSMMtube	muscle
34	chr8:90732200-90738400	Weak transcription	HSMM	muscle
35	chr8:90733200-90738000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:90733600-90737600	Weak transcription	A549	lung
37	chr8:90733600-90737800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:90733600-90737800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr8:90733600-90737800	Weak transcription	Osteobl	bone
40	chr8:90733600-90741200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:90733800-90738000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:90733800-90738000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:90734000-90737600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr8:90734000-90738000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:90734000-90741200	Weak transcription	Liver	Liver
46	chr8:90734200-90737600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:90734200-90737800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr8:90734200-90738200	Weak transcription	Aorta	Aorta
49	chr8:90734200-90738200	Weak transcription	Brain Anterior Caudate	brain
50	chr8:90734200-90739800	Weak transcription	Fetal Stomach	stomach

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