Variant report

Variant	rs6472217
Chromosome Location	chr8:66547731-66547732
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	HNF4G	chr8:66547508-66547965	HepG2	liver:	n/a	n/a
2	CEBPB	chr8:66547399-66547746	A549	lung:	n/a	n/a
3	RCOR1	chr8:66547621-66547813	HepG2	liver:	n/a	n/a
4	MYC	chr8:66547446-66547742	NB4	blood:	n/a	n/a
5	HEY1	chr8:66547523-66547826	HepG2	liver:	n/a	n/a
6	MYBL2	chr8:66547420-66547907	HepG2	liver:	n/a	n/a
7	POLR2A	chr8:66547427-66547869	HepG2	liver:	n/a	n/a
8	HNF4A	chr8:66547645-66547868	HepG2	liver:	n/a	chr8:66547808-66547823
9	HNF4A	chr8:66547572-66547923	HepG2	liver:	n/a	chr8:66547808-66547823
10	POLR2A	chr8:66547692-66547750	K562	blood:	n/a	n/a
11	POLR2A	chr8:66547298-66547860	HepG2	liver:	n/a	n/a
12	HDAC2	chr8:66547394-66547879	HepG2	liver:	n/a	n/a
13	CEBPB	chr8:66547439-66547773	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:66546894..66548678-chr8:66628274..66630820,2	MCF-7	breast:
2	chr8:66544222..66547080-chr8:66547679..66550589,3	MCF-7	breast:
3	chr8:66544310..66548208-chr8:66554670..66559350,8	MCF-7	breast:
4	chr8:66543941..66549000-chr8:66554498..66559366,10	MCF-7	breast:

Variant related genes	Relation type
ARMC1	TF binding region
ENSG00000066855	Chromatin interaction
ENSG00000104442	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10087361	0.99[ASN][1000 genomes]
rs10089029	0.99[ASN][1000 genomes]
rs10089708	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10092109	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10097461	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10100131	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10110985	0.83[ASN][1000 genomes]
rs1053085	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1053087	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1053088	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957361	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11776709	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11776712	0.90[ASN][1000 genomes]
rs11985628	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11990855	0.98[ASN][1000 genomes]
rs12335006	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12335276	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12543053	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12544767	0.94[ASN][1000 genomes]
rs12677419	0.97[ASN][1000 genomes]
rs12678467	0.98[ASN][1000 genomes]
rs13252358	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13266834	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13267942	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13281155	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs14213	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1473601	0.99[ASN][1000 genomes]
rs1533285	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932245	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16932250	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16932314	0.93[ASN][1000 genomes]
rs1877638	0.94[ASN][1000 genomes]
rs2048650	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2102648	0.96[ASN][1000 genomes]
rs2175809	0.97[ASN][1000 genomes]
rs2175810	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2357476	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28415299	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28576524	0.97[ASN][1000 genomes]
rs28613797	0.99[ASN][1000 genomes]
rs3268	0.98[ASN][1000 genomes]
rs34226237	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34494846	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34533611	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34851482	0.97[ASN][1000 genomes]
rs35038843	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35790435	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35941313	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3750184	0.98[ASN][1000 genomes]
rs3765205	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3812412	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4275254	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4320587	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4384016	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4384017	0.84[ASN][1000 genomes]
rs4388482	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4397444	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4637885	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4637886	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737222	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737747	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737748	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737749	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737750	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5018458	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57419568	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60023200	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60058315	0.98[ASN][1000 genomes]
rs6472213	0.98[ASN][1000 genomes]
rs6472214	0.87[ASN][1000 genomes]
rs6472215	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6472216	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6472218	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66467166	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66486920	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67046768	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67131486	0.94[ASN][1000 genomes]
rs67685675	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6985897	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6985932	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986691	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986866	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6991731	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6993876	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6994213	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6995242	0.98[ASN][1000 genomes]
rs6997959	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7006261	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7006648	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7007505	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7012578	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7012856	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7016472	0.98[ASN][1000 genomes]
rs71930161	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73236948	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73236986	0.99[ASN][1000 genomes]
rs73239011	0.99[ASN][1000 genomes]
rs73239085	0.99[ASN][1000 genomes]
rs7459737	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7464123	0.92[ASN][1000 genomes]
rs7464223	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7812390	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7812446	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814841	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7815488	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7817112	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7823840	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7832407	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7835313	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7836349	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7836746	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841652	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842162	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7846527	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6472217	CTD-3025N20.3	cis	Artery Tibial	GTEx
rs6472217	CTD-3025N20.3	cis	Esophagus Mucosa	GTEx
rs6472217	CTD-3025N20.3	cis	Thyroid	GTEx
rs6472217	CTD-3025N20.3	cis	lung	GTEx
rs6472217	CTD-3025N20.3	cis	Muscle Skeletal	GTEx
rs6472217	CTD-3025N20.3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66545600-66547800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr8:66545600-66549400	Active TSS	A549	lung
3	chr8:66545800-66547800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:66546000-66547800	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr8:66546400-66556000	Weak transcription	Small Intestine	intestine
6	chr8:66547000-66548000	Active TSS	HepG2	liver
7	chr8:66547000-66555800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:66547200-66547800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr8:66547200-66547800	Flanking Active TSS	Dnd41	blood
10	chr8:66547400-66547800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:66547400-66547800	Enhancers	Fetal Brain Male	brain
12	chr8:66547400-66547800	Enhancers	Fetal Brain Female	brain
13	chr8:66547400-66547800	Flanking Active TSS	Placenta	Placenta
14	chr8:66547400-66556000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr8:66547600-66547800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:66547600-66547800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:66547600-66547800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:66547600-66547800	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:66547600-66547800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:66547600-66547800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:66547600-66547800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:66547600-66547800	Flanking Active TSS	Liver	Liver
23	chr8:66547600-66547800	Enhancers	Pancreas	Pancrea
24	chr8:66547600-66547800	Weak transcription	Spleen	Spleen
25	chr8:66547600-66548600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:66547600-66548600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:66547600-66548600	Weak transcription	Hela-S3	cervix
28	chr8:66547600-66548600	Weak transcription	HMEC	breast
29	chr8:66547600-66548600	Weak transcription	NHEK	skin
30	chr8:66547600-66549000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:66547600-66549000	Weak transcription	NH-A	brain
32	chr8:66547600-66549200	Weak transcription	Osteobl	bone
33	chr8:66547600-66549800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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