Variant report

Variant	rs73688859
Chromosome Location	chr8:87496565-87496566
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	CEBPB	chr8:87496183-87496570	IMR90	lung:	n/a	chr8:87496374-87496385
2	POLR2A	chr8:87496096-87496566	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr8:87496169-87496625	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr8:87496223-87496722	MCF-7	breast:	n/a	n/a
5	FOS	chr8:87496217-87496565	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr8:87496154-87496566	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:87496096-87496667	HepG2	liver:	n/a	n/a
8	FOS	chr8:87496146-87496595	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr8:87496165-87496603	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr8:87496147-87496566	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:87488822..87490352-chr8:87494282..87496966,2	MCF-7	breast:
2	chr8:87492324..87497991-chr8:87518822..87522169,6	MCF-7	breast:
3	chr8:87495583..87497504-chr8:87520238..87522113,2	K562	blood:
4	chr8:87495268..87498918-chr8:87499043..87502704,4	MCF-7	breast:
5	chr8:87493659..87498581-chr8:87498622..87502865,4	MCF-7	breast:

Variant related genes	Relation type
NTAN1P2	TF binding region
RMDN1	TF binding region
CPNE3	TF binding region
ENSG00000176623	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10086188	0.81[ASN][1000 genomes]
rs10089169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10089253	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10089317	0.84[EUR][1000 genomes]
rs10090898	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10090963	0.81[ASN][1000 genomes]
rs10093867	0.82[EUR][1000 genomes]
rs10094332	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10095589	0.81[ASN][1000 genomes]
rs10097546	0.82[EUR][1000 genomes]
rs10097866	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10098365	0.81[ASN][1000 genomes]
rs10100182	0.90[ASN][1000 genomes]
rs10100247	0.81[ASN][1000 genomes]
rs10100254	0.94[ASN][1000 genomes]
rs10100368	0.90[ASN][1000 genomes]
rs10100698	0.84[EUR][1000 genomes]
rs10106390	0.81[ASN][1000 genomes]
rs10107117	0.81[ASN][1000 genomes]
rs10107571	0.81[ASN][1000 genomes]
rs10108586	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10109677	0.82[EUR][1000 genomes]
rs10110096	0.90[ASN][1000 genomes]
rs10110323	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481195	0.84[ASN][1000 genomes]
rs10504823	0.84[EUR][1000 genomes]
rs10956820	0.87[EUR][1000 genomes]
rs10956821	0.84[EUR][1000 genomes]
rs10956822	0.87[EUR][1000 genomes]
rs10956871	0.81[ASN][1000 genomes]
rs11774253	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11774499	0.81[ASN][1000 genomes]
rs11776698	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11781993	0.82[EUR][1000 genomes]
rs11783382	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11984519	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11986423	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11994508	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11997927	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11998558	0.84[ASN][1000 genomes]
rs12155979	0.90[EUR][1000 genomes]
rs12155981	0.90[EUR][1000 genomes]
rs12156004	0.83[EUR][1000 genomes]
rs12216783	0.84[EUR][1000 genomes]
rs12335013	0.85[EUR][1000 genomes]
rs13265266	0.81[EUR][1000 genomes]
rs16915375	0.81[ASN][1000 genomes]
rs16915389	0.81[ASN][1000 genomes]
rs17681534	0.84[EUR][1000 genomes]
rs17681826	0.85[EUR][1000 genomes]
rs28384362	0.88[EUR][1000 genomes]
rs28397606	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28416254	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28433311	0.83[EUR][1000 genomes]
rs28438974	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28504479	0.82[EUR][1000 genomes]
rs28514445	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28540009	0.81[ASN][1000 genomes]
rs28613262	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28680173	0.90[EUR][1000 genomes]
rs28687116	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28715255	0.85[EUR][1000 genomes]
rs2976194	0.84[EUR][1000 genomes]
rs3087641	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4440616	0.93[EUR][1000 genomes]
rs55671538	0.83[EUR][1000 genomes]
rs55871514	0.87[EUR][1000 genomes]
rs57638937	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58837061	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6471295	0.82[EUR][1000 genomes]
rs6471317	0.87[EUR][1000 genomes]
rs6651177	0.81[ASN][1000 genomes]
rs6651268	0.81[ASN][1000 genomes]
rs67332431	0.90[ASN][1000 genomes]
rs6980476	0.81[ASN][1000 genomes]
rs6992624	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6993497	0.87[EUR][1000 genomes]
rs6993612	0.85[EUR][1000 genomes]
rs7015772	0.85[EUR][1000 genomes]
rs7018083	0.85[ASN][1000 genomes]
rs72690416	0.90[ASN][1000 genomes]
rs72690443	0.81[ASN][1000 genomes]
rs72690445	0.81[ASN][1000 genomes]
rs72690447	0.81[ASN][1000 genomes]
rs72690455	0.81[ASN][1000 genomes]
rs72690457	0.81[ASN][1000 genomes]
rs72690474	0.81[ASN][1000 genomes]
rs73688817	0.84[EUR][1000 genomes]
rs73688823	0.82[EUR][1000 genomes]
rs73688824	0.82[EUR][1000 genomes]
rs73688827	0.85[EUR][1000 genomes]
rs73688856	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73688857	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73688858	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73688862	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7818436	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7823951	0.85[AFR][1000 genomes]
rs7824873	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7833201	0.89[AFR][1000 genomes]
rs7837581	0.83[EUR][1000 genomes]
rs7839096	0.82[EUR][1000 genomes]
rs7843272	0.84[EUR][1000 genomes]
rs7843399	0.88[EUR][1000 genomes]
rs7844014	0.81[ASN][1000 genomes]
rs9297913	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9650128	0.81[ASN][1000 genomes]
rs9650129	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv968514	chr8:87495999-87514855	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 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	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
4	chr8:87459200-87499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:87471000-87497800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
7	chr8:87479600-87499400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:87481800-87507400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:87481800-87507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:87481800-87507600	Weak transcription	Esophagus	oesophagus
11	chr8:87482000-87507600	Weak transcription	Fetal Brain Male	brain
12	chr8:87482000-87508200	Weak transcription	Fetal Heart	heart
13	chr8:87482000-87508400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:87482200-87507600	Weak transcription	Colonic Mucosa	Colon
15	chr8:87482400-87517000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:87482800-87503400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:87482800-87506600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:87482800-87519600	Weak transcription	HUVEC	blood vessel
19	chr8:87483000-87508400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:87483200-87505400	Weak transcription	Hela-S3	cervix
21	chr8:87485000-87501200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:87487600-87507400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:87488200-87507400	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:87488200-87507600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:87488400-87519800	Weak transcription	Psoas Muscle	Psoas
26	chr8:87488800-87505400	Weak transcription	Stomach Mucosa	stomach
27	chr8:87489000-87499600	Strong transcription	HSMM	muscle
28	chr8:87490400-87507400	Weak transcription	HSMMtube	muscle
29	chr8:87491200-87498000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:87491200-87507600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:87492800-87499600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:87493200-87499600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:87493200-87500200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:87493800-87497600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:87493800-87498200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:87493800-87498400	Strong transcription	Fetal Intestine Large	intestine
37	chr8:87493800-87498800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:87493800-87499000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:87493800-87499000	Strong transcription	Primary T cells from cord blood	blood
40	chr8:87493800-87499000	Strong transcription	Adipose Nuclei	Adipose
41	chr8:87493800-87500200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr8:87493800-87508000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:87494000-87498200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:87494000-87498800	Strong transcription	Dnd41	blood
45	chr8:87494000-87499000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:87494000-87499000	Strong transcription	Fetal Stomach	stomach
47	chr8:87494000-87499000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr8:87494000-87499400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:87494000-87499600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr8:87494000-87499600	Strong transcription	Monocytes-CD14+_RO01746	blood

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