Variant report

Variant	rs72690416
Chromosome Location	chr8:87491951-87491952
allele	G/T
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	POLR2A	chr8:87491654-87492103	MCF-7	breast:	n/a	n/a
2	POLR2A	chr8:87489172-87495272	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:87490641-87493151	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:87487964..87489806-chr8:87491396..87493548,2	K562	blood:
2	chr8:87485410..87488607-chr8:87490685..87493576,3	MCF-7	breast:
3	chr8:87488182..87492141-chr8:87519043..87522163,5	K562	blood:
4	chr8:87485122..87487752-chr8:87491882..87495380,3	K562	blood:

Variant related genes	Relation type
RMDN1	TF binding region
ENSG00000176623	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10086188	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10089169	0.97[ASN][1000 genomes]
rs10089253	0.93[ASN][1000 genomes]
rs10090898	0.94[ASN][1000 genomes]
rs10090963	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10092168	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10094332	0.90[ASN][1000 genomes]
rs10095589	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10097866	0.93[ASN][1000 genomes]
rs10098365	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100182	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100247	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100254	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10100368	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106390	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10107117	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10107571	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10108586	0.93[ASN][1000 genomes]
rs10110096	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10481195	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956871	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11774253	0.94[ASN][1000 genomes]
rs11774499	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11776698	0.93[ASN][1000 genomes]
rs11783382	1.00[ASN][1000 genomes]
rs11984519	1.00[ASN][1000 genomes]
rs11986423	0.90[ASN][1000 genomes]
rs11994508	0.97[ASN][1000 genomes]
rs11997927	1.00[ASN][1000 genomes]
rs11998558	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12155979	0.87[ASN][1000 genomes]
rs12155981	0.87[ASN][1000 genomes]
rs16915375	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16915389	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28397606	1.00[ASN][1000 genomes]
rs28416254	1.00[ASN][1000 genomes]
rs28438974	0.90[ASN][1000 genomes]
rs28514445	0.90[ASN][1000 genomes]
rs28540009	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28613262	0.90[ASN][1000 genomes]
rs28680173	0.84[ASN][1000 genomes]
rs28687116	0.90[ASN][1000 genomes]
rs3087641	1.00[ASN][1000 genomes]
rs4440616	0.87[ASN][1000 genomes]
rs57638937	0.91[ASN][1000 genomes]
rs58837061	0.93[ASN][1000 genomes]
rs6651177	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6651268	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67332431	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980476	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6992624	1.00[ASN][1000 genomes]
rs7018083	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72690443	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690445	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690447	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690455	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690457	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690474	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73688856	0.93[ASN][1000 genomes]
rs73688857	0.97[ASN][1000 genomes]
rs73688858	0.97[ASN][1000 genomes]
rs73688859	0.90[ASN][1000 genomes]
rs73688862	0.97[ASN][1000 genomes]
rs7818436	1.00[ASN][1000 genomes]
rs7823951	0.87[ASN][1000 genomes]
rs7824873	0.90[ASN][1000 genomes]
rs7833201	0.87[ASN][1000 genomes]
rs7844014	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297913	1.00[ASN][1000 genomes]
rs9650128	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9650129	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:87453400-87492000	Strong transcription	Adipose Nuclei	Adipose
4	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
5	chr8:87457800-87492000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr8:87459200-87499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:87460000-87492400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:87461000-87494200	Weak transcription	Brain Substantia Nigra	brain
9	chr8:87471000-87497800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:87473800-87494200	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
12	chr8:87477400-87494200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:87477800-87494200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:87477800-87494600	Weak transcription	Aorta	Aorta
15	chr8:87478000-87494200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:87479000-87492400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:87479600-87499400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:87480600-87492000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:87481400-87494200	Weak transcription	Right Ventricle	heart
20	chr8:87481800-87494200	Weak transcription	Gastric	stomach
21	chr8:87481800-87494800	Weak transcription	Spleen	Spleen
22	chr8:87481800-87507400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:87481800-87507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:87481800-87507600	Weak transcription	Esophagus	oesophagus
25	chr8:87482000-87494000	Weak transcription	Pancreas	Pancrea
26	chr8:87482000-87494200	Weak transcription	Thymus	Thymus
27	chr8:87482000-87496400	Weak transcription	Brain Anterior Caudate	brain
28	chr8:87482000-87507600	Weak transcription	Fetal Brain Male	brain
29	chr8:87482000-87508200	Weak transcription	Fetal Heart	heart
30	chr8:87482000-87508400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:87482200-87494200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:87482200-87495800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:87482200-87496400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:87482200-87507600	Weak transcription	Colonic Mucosa	Colon
35	chr8:87482400-87517000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:87482600-87494200	Weak transcription	K562	blood
37	chr8:87482600-87494800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:87482600-87494800	Weak transcription	Lung	lung
39	chr8:87482800-87494000	Weak transcription	Fetal Stomach	stomach
40	chr8:87482800-87494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:87482800-87494200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:87482800-87494200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr8:87482800-87496400	Weak transcription	Brain Germinal Matrix	brain
44	chr8:87482800-87503400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:87482800-87506600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:87482800-87519600	Weak transcription	HUVEC	blood vessel
47	chr8:87483000-87494200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:87483000-87508400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:87483200-87493400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:87483200-87494000	Weak transcription	Stomach Smooth Muscle	stomach

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