Variant report

Variant	rs6994725
Chromosome Location	chr8:66844743-66844744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:66844282..66846340-chr8:66858870..66861853,2	MCF-7	breast:
2	chr8:66833227..66835066-chr8:66844523..66847386,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10092435	0.85[ASN][1000 genomes]
rs10097206	0.83[ASN][1000 genomes]
rs10098417	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10104877	0.87[CEU][hapmap];0.85[ASN][1000 genomes]
rs10216825	1.00[YRI][hapmap]
rs11984566	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984618	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986470	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988360	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11988712	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11991974	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11995587	0.85[ASN][1000 genomes]
rs11995702	0.85[ASN][1000 genomes]
rs11995704	0.85[ASN][1000 genomes]
rs11996694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11996764	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11997658	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11998618	0.97[ASN][1000 genomes]
rs11998640	0.87[ASN][1000 genomes]
rs12114319	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16932411	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2357552	0.97[ASN][1000 genomes]
rs2357566	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2357568	0.85[ASN][1000 genomes]
rs2357569	0.85[ASN][1000 genomes]
rs2357577	0.80[ASN][1000 genomes]
rs2357579	0.85[ASN][1000 genomes]
rs2357657	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2357663	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs2357666	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs28402886	0.85[ASN][1000 genomes]
rs28407694	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28605672	0.85[ASN][1000 genomes]
rs2884235	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs34653832	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3934466	1.00[ASN][1000 genomes]
rs4262311	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4317552	0.80[ASN][1000 genomes]
rs4355757	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.85[ASN][1000 genomes]
rs4380924	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4601292	1.00[ASN][1000 genomes]
rs4637811	0.80[ASN][1000 genomes]
rs55861240	0.88[ASN][1000 genomes]
rs55864718	0.83[ASN][1000 genomes]
rs56080166	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56249745	0.88[ASN][1000 genomes]
rs56389721	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59282311	0.88[ASN][1000 genomes]
rs60020249	0.85[ASN][1000 genomes]
rs60120959	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60258162	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60520895	0.82[ASN][1000 genomes]
rs60667481	0.85[ASN][1000 genomes]
rs61709988	0.88[ASN][1000 genomes]
rs6472232	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6472236	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472238	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472241	0.82[ASN][1000 genomes]
rs6472242	0.80[ASN][1000 genomes]
rs6981354	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6982577	0.85[ASN][1000 genomes]
rs6983945	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6985149	0.87[ASN][1000 genomes]
rs6989099	0.88[ASN][1000 genomes]
rs6989850	0.87[ASN][1000 genomes]
rs6990319	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6992002	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6996761	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6997496	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];1.00[ASN][1000 genomes]
rs7000670	0.88[ASN][1000 genomes]
rs7003160	0.85[ASN][1000 genomes]
rs7006789	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7010113	0.87[ASN][1000 genomes]
rs7010679	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7012332	0.88[ASN][1000 genomes]
rs7017618	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7461470	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7465415	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7812954	0.85[ASN][1000 genomes]
rs7817474	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821284	0.82[CEU][hapmap]
rs7841181	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694378	0.87[ASN][1000 genomes]
rs9918852	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1023239	chr8:66775321-66904124	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6994725	MTFR1	cis	parietal	SCAN
rs6994725	PDE7A	cis	parietal	SCAN
rs6994725	PTTG3P	cis	cerebellum	SCAN
rs6994725	MTFR1	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66840000-66846800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:66840200-66846600	Enhancers	HMEC	breast
3	chr8:66841600-66846200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr8:66842200-66845000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:66842200-66845200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:66842200-66845200	Weak transcription	A549	lung
7	chr8:66842200-66845600	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:66842400-66844800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:66842400-66845000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:66842400-66845200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:66842400-66845200	Weak transcription	NHEK	skin
12	chr8:66842800-66845600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:66843600-66846200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:66843600-66846400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:66843600-66846400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:66843800-66846200	Enhancers	Fetal Thymus	thymus
17	chr8:66843800-66846600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr8:66844000-66844800	Enhancers	Primary B cells from cord blood	blood
19	chr8:66844000-66845000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:66844200-66846400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr8:66844400-66845000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr8:66844400-66845200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:66844400-66845200	Weak transcription	Thymus	Thymus
24	chr8:66844400-66845400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:66844400-66845600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr8:66844400-66845800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:66844400-66845800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr8:66844400-66846000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr8:66844400-66846000	Enhancers	Dnd41	blood
30	chr8:66844400-66846200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:66844400-66846200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr8:66844400-66846200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr8:66844400-66846400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr8:66844400-66846400	Enhancers	Primary T cells from cord blood	blood
35	chr8:66844600-66845000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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