Variant report

Variant	rs34700722
Chromosome Location	chr8:96021876-96021877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96021786..96023781-chr8:96035295..96037278,3	MCF-7	breast:
2	chr8:96021495..96024798-chr8:96025934..96027928,3	K562	blood:
3	chr8:96021154..96024035-chr8:96026303..96030842,4	MCF-7	breast:
4	chr8:96000256..96002334-chr8:96021796..96023746,2	MCF-7	breast:
5	chr8:96007661..96009980-chr8:96021483..96023958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10086541	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10092003	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10093594	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10096455	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10097930	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098197	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10098453	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100089	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103841	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10105437	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10106491	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10110635	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10111154	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10111300	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112230	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10113545	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031388	0.93[ASN][1000 genomes]
rs11774085	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776189	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11779506	0.87[ASN][1000 genomes]
rs11780931	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11781001	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11781040	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11781619	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11784178	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786380	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786878	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13279040	0.81[ASN][1000 genomes]
rs1545480	0.87[ASN][1000 genomes]
rs16917224	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917233	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2340536	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2599711	0.87[ASN][1000 genomes]
rs2599713	0.93[ASN][1000 genomes]
rs2599714	0.93[ASN][1000 genomes]
rs2599715	0.93[ASN][1000 genomes]
rs2678823	0.93[ASN][1000 genomes]
rs2678829	1.00[ASN][1000 genomes]
rs28363725	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28378156	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28406132	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28419772	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28440026	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28477467	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28496357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28616734	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28651964	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28712702	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35518242	0.81[ASN][1000 genomes]
rs4323442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56901035	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57925408	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61596977	0.86[EUR][1000 genomes]
rs6471505	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471506	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6651271	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6651272	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6985880	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989862	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002940	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008542	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532343	0.81[ASN][1000 genomes]
rs73276406	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276417	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276437	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73276439	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73276444	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7812312	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818688	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826046	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7826196	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832570	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842703	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7842715	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9297950	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297951	0.93[EUR][1000 genomes];0.93[ASN][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
rs34700722	INTS8	Cis_1M	lymphoblastoid	RTeQTL
rs34700722	C8orf38	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95977400-96024200	Weak transcription	Aorta	Aorta
2	chr8:96001200-96023400	Weak transcription	Liver	Liver
3	chr8:96003200-96032600	Weak transcription	Gastric	stomach
4	chr8:96009000-96036400	Weak transcription	Spleen	Spleen
5	chr8:96009800-96023000	Weak transcription	Adipose Nuclei	Adipose
6	chr8:96018400-96023000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:96019800-96023200	Weak transcription	Lung	lung
8	chr8:96020200-96022600	Weak transcription	A549	lung
9	chr8:96020600-96022000	Enhancers	Fetal Stomach	stomach
10	chr8:96021000-96022400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:96021400-96023800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:96021600-96022000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:96021600-96022000	Enhancers	Brain Germinal Matrix	brain
14	chr8:96021600-96023000	Enhancers	NHDF-Ad	bronchial
15	chr8:96021600-96023400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:96021600-96023400	Enhancers	Placenta	Placenta
17	chr8:96021600-96023600	Enhancers	Primary hematopoietic stem cells	blood
18	chr8:96021600-96023600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:96021600-96024800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:96021600-96027000	Enhancers	HepG2	liver
21	chr8:96021800-96024800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:96021800-96025400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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