Variant report

Variant	rs11781619
Chromosome Location	chr8:96017323-96017324
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:96017089..96018665-chr8:96022753..96024345,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10086541	0.90[EUR][1000 genomes]
rs10092003	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10093594	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10096455	0.85[EUR][1000 genomes]
rs10097930	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10098197	0.87[EUR][1000 genomes]
rs10098453	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10100089	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10103841	0.82[EUR][1000 genomes]
rs10105437	0.87[EUR][1000 genomes]
rs10106491	0.87[EUR][1000 genomes]
rs10110635	0.91[EUR][1000 genomes]
rs10111154	0.84[EUR][1000 genomes]
rs10111300	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10112230	0.87[EUR][1000 genomes]
rs10113545	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11774085	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11776189	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11779506	0.81[AFR][1000 genomes]
rs11780931	0.87[EUR][1000 genomes]
rs11781001	0.84[AMR][1000 genomes]
rs11781040	0.86[EUR][1000 genomes]
rs11784178	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11786380	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11786878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13279040	0.81[AFR][1000 genomes]
rs16917224	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16917233	0.87[EUR][1000 genomes]
rs17665737	0.91[AFR][1000 genomes]
rs2340536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678829	0.84[ASN][1000 genomes]
rs28363725	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28378156	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28406132	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28419772	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28440026	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28477467	0.90[EUR][1000 genomes]
rs28496357	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28616734	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28651964	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28712702	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34700722	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35518242	0.81[AFR][1000 genomes]
rs4323442	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56901035	0.87[EUR][1000 genomes]
rs57925408	0.86[EUR][1000 genomes]
rs61596977	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6471505	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6471506	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6651271	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6651272	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6985880	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6989862	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7002940	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7008542	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71532343	0.81[AFR][1000 genomes]
rs73276406	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73276417	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73276437	0.90[EUR][1000 genomes]
rs73276439	0.88[EUR][1000 genomes]
rs73276444	0.87[EUR][1000 genomes]
rs7812312	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7818688	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7826196	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7832570	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7842715	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9297950	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9297951	0.87[EUR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv524876	chr8:96000919-96027306	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11781619	C8orf38	Cis_1M	lymphoblastoid	RTeQTL
rs11781619	INTS8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95977400-96024200	Weak transcription	Aorta	Aorta
2	chr8:95987000-96019600	Weak transcription	Lung	lung
3	chr8:95987200-96018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:95997400-96018000	Weak transcription	HSMMtube	muscle
5	chr8:96001200-96023400	Weak transcription	Liver	Liver
6	chr8:96003200-96032600	Weak transcription	Gastric	stomach
7	chr8:96009000-96036400	Weak transcription	Spleen	Spleen
8	chr8:96009800-96023000	Weak transcription	Adipose Nuclei	Adipose
9	chr8:96012200-96018800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:96014600-96021600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:96015200-96019000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:96015600-96018400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr8:96015600-96020400	Enhancers	HepG2	liver
14	chr8:96015600-96021600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:96016000-96018200	Weak transcription	Primary B cells from cord blood	blood
16	chr8:96016000-96021600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:96016200-96021600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:96016400-96018000	Weak transcription	Stomach Mucosa	stomach
19	chr8:96016400-96018000	Weak transcription	A549	lung
20	chr8:96016400-96018000	Weak transcription	K562	blood
21	chr8:96016400-96021400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:96016400-96021600	Weak transcription	Brain Germinal Matrix	brain
23	chr8:96016600-96018000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:96016600-96018000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:96016600-96018200	Weak transcription	Pancreas	Pancrea

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