Variant report

Variant	rs7006789
Chromosome Location	chr8:66935288-66935289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66934410..66936922-chr8:66937926..66940879,2	K562	blood:
2	chr8:66752746..66756404-chr8:66931747..66936511,11	MCF-7	breast:
3	chr8:66752587..66755352-chr8:66933051..66936501,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272192	Chromatin interaction
ENSG00000205268	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10092435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097206	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10097560	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10098417	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104877	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984566	0.85[ASN][1000 genomes]
rs11984618	0.85[ASN][1000 genomes]
rs11986470	0.85[ASN][1000 genomes]
rs11988360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988712	0.82[ASN][1000 genomes]
rs11991974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11995587	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995702	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995704	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996694	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11996764	0.82[ASN][1000 genomes]
rs11997658	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998618	0.82[ASN][1000 genomes]
rs11998640	0.95[ASN][1000 genomes]
rs12114319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932411	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357552	0.82[ASN][1000 genomes]
rs2357566	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357568	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357569	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357577	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2357579	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357663	0.96[CEU][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2357666	0.96[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs28402886	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28605672	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34653832	0.82[ASN][1000 genomes]
rs3934466	0.85[ASN][1000 genomes]
rs4262311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4317552	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4355757	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380924	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4601292	0.85[ASN][1000 genomes]
rs4637811	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55861240	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55864718	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56249745	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56389721	0.82[ASN][1000 genomes]
rs59282311	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60020249	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60258162	0.85[ASN][1000 genomes]
rs60520895	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60667481	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61709988	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6472236	0.85[ASN][1000 genomes]
rs6472238	0.85[ASN][1000 genomes]
rs6472241	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6472242	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6981354	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6982577	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985149	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6989099	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989850	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6990209	0.84[EUR][1000 genomes]
rs6990319	0.82[ASN][1000 genomes]
rs6992002	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994725	0.85[ASN][1000 genomes]
rs6996761	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997496	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7000670	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7002734	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7003160	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010113	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7010679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012332	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7017618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7465415	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812954	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7817474	0.85[ASN][1000 genomes]
rs7821284	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs7841181	0.85[ASN][1000 genomes]
rs9694378	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9918852	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7006789	PTTG3P	cis	cerebellum	SCAN
rs7006789	MTFR1	cis	cerebellum	SCAN
rs7006789	MYBL1	cis	cerebellum	SCAN
rs7006789	MTFR1	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66931000-66938800	Weak transcription	Spleen	Spleen
2	chr8:66931600-66935400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr8:66931600-66938800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:66933200-66935400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr8:66933400-66935600	Enhancers	Fetal Thymus	thymus
6	chr8:66933400-66935600	Flanking Active TSS	A549	lung
7	chr8:66933600-66935400	Enhancers	Left Ventricle	heart
8	chr8:66933600-66935600	Enhancers	NHDF-Ad	bronchial
9	chr8:66933600-66935600	Enhancers	NHLF	lung
10	chr8:66933600-66936200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:66933600-66936200	Enhancers	Small Intestine	intestine
12	chr8:66933800-66935400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:66933800-66936600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr8:66933800-66938600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:66933800-66944400	Weak transcription	Pancreas	Pancrea
16	chr8:66934000-66936200	Enhancers	Primary T cells from cord blood	blood
17	chr8:66934000-66943800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:66934000-66944400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:66934400-66935600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr8:66934400-66935600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr8:66934400-66935600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr8:66934600-66935400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:66934600-66935400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:66934600-66935600	Enhancers	Adipose Nuclei	Adipose
25	chr8:66934600-66936200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:66934600-66938800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:66934600-66939200	Weak transcription	Psoas Muscle	Psoas
28	chr8:66934800-66935400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:66934800-66935400	Enhancers	Hela-S3	cervix
30	chr8:66934800-66935400	Enhancers	HepG2	liver
31	chr8:66934800-66935400	Enhancers	K562	blood
32	chr8:66934800-66937000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:66934800-66938600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:66934800-66938600	Weak transcription	Thymus	Thymus
35	chr8:66934800-66938800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:66934800-66938800	Weak transcription	Esophagus	oesophagus
37	chr8:66934800-66938800	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:66934800-66938800	Weak transcription	Gastric	stomach
39	chr8:66934800-66938800	Weak transcription	Right Atrium	heart
40	chr8:66934800-66940800	Weak transcription	Lung	lung
41	chr8:66935000-66935400	Enhancers	Brain Hippocampus Middle	brain
42	chr8:66935000-66935400	Enhancers	Brain Substantia Nigra	brain
43	chr8:66935000-66935600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:66935000-66935600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:66935000-66935800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr8:66935000-66938600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:66935000-66938600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:66935000-66938600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:66935000-66938600	Weak transcription	HMEC	breast
50	chr8:66935000-66938600	Weak transcription	NHEK	skin

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