Variant report

Variant	rs7786186
Chromosome Location	chr7:107119200-107119201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107116237..107119401-chr7:107133412..107136186,3	MCF-7	breast:
2	chr7:107113174..107117044-chr7:107118351..107120952,4	K562	blood:
3	chr7:107079214..107081093-chr7:107117550..107120352,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1015410	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1018869	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1024401	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs10244871	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10245210	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10260250	0.84[CEU][hapmap];0.89[TSI][hapmap]
rs10267978	0.84[EUR][1000 genomes]
rs10276321	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953538	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532304	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12668402	0.82[AFR][1000 genomes]
rs1468335	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs1544336	0.84[AFR][1000 genomes]
rs17154077	0.82[AFR][1000 genomes]
rs1858889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237667	0.85[CEU][hapmap]
rs2237670	0.88[AFR][1000 genomes]
rs2237672	0.88[AFR][1000 genomes]
rs2250410	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250414	0.87[AFR][1000 genomes]
rs2253856	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2283042	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2395883	0.82[AFR][1000 genomes]
rs2520249	0.97[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2520257	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520258	0.87[EUR][1000 genomes]
rs2520259	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2520260	0.82[AFR][1000 genomes]
rs2520262	0.83[EUR][1000 genomes]
rs2520266	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2520270	0.85[EUR][1000 genomes]
rs2520272	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2520276	0.97[EUR][1000 genomes]
rs2520277	0.88[AFR][1000 genomes]
rs2520278	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2520279	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712186	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712188	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2712192	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2712193	0.88[AFR][1000 genomes]
rs2712194	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712201	0.94[LWK][hapmap];0.86[YRI][hapmap]
rs2712203	0.86[EUR][1000 genomes]
rs2712213	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712217	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2712223	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2712225	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28410326	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3779496	0.93[EUR][1000 genomes]
rs3801954	0.82[AFR][1000 genomes]
rs4588787	0.82[ASN][1000 genomes]
rs4610672	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4727680	0.81[MKK][hapmap]
rs4727681	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs4727682	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs4730243	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60490203	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62483724	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6466172	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466174	0.84[EUR][1000 genomes]
rs67982599	0.90[AFR][1000 genomes]
rs6945488	0.80[EUR][1000 genomes]
rs6954422	0.88[CEU][hapmap]
rs6962433	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6966616	0.88[CEU][hapmap];0.89[TSI][hapmap]
rs6968804	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782057	0.82[AFR][1000 genomes]
rs7787113	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7791955	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs7805630	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs987391	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1832266	chr7:106961882-107136320	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7786186	MLL5	cis	parietal	SCAN
rs7786186	COG5	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107035800-107133000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:107052600-107126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:107067600-107119800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:107088600-107126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:107090800-107146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:107091000-107145800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr7:107098800-107132600	Weak transcription	Primary B cells from cord blood	blood
8	chr7:107104200-107121000	Weak transcription	K562	blood
9	chr7:107112200-107120800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:107112800-107145800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:107113000-107124800	Weak transcription	HUVEC	blood vessel
12	chr7:107113400-107126200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:107115400-107132800	Weak transcription	Primary T cells from cord blood	blood
14	chr7:107115600-107135200	Weak transcription	Left Ventricle	heart
15	chr7:107118200-107119600	Enhancers	Fetal Heart	heart
16	chr7:107118800-107120800	Weak transcription	Right Atrium	heart
17	chr7:107119000-107120000	Active TSS	Right Ventricle	heart

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