Variant report

Variant	rs426240
Chromosome Location	chr8:90846801-90846802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153928343..153930810-chr8:90845808..90848291,2	MCF-7	breast:
2	chr8:90845301..90847765-chr8:90850348..90853325,2	MCF-7	breast:
3	chr8:90842015..90844808-chr8:90846350..90848041,2	MCF-7	breast:
4	chr8:90844734..90847246-chr8:90847760..90849982,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160741	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10094579	0.81[ASN][1000 genomes]
rs12155807	0.81[ASN][1000 genomes]
rs13278954	0.81[ASN][1000 genomes]
rs16901016	0.81[ASN][1000 genomes]
rs28766093	0.81[ASN][1000 genomes]
rs34642426	0.81[ASN][1000 genomes]
rs35183880	0.81[ASN][1000 genomes]
rs365871	0.94[ASN][1000 genomes]
rs374957	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs386857	0.94[ASN][1000 genomes]
rs39519	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs39771	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs39772	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs398959	0.93[ASN][1000 genomes]
rs400571	0.93[ASN][1000 genomes]
rs40250	0.93[EUR][1000 genomes]
rs40459	0.94[EUR][1000 genomes]
rs410577	0.94[ASN][1000 genomes]
rs410663	0.92[EUR][1000 genomes]
rs418634	0.89[EUR][1000 genomes]
rs419890	0.93[EUR][1000 genomes]
rs42186	0.92[EUR][1000 genomes]
rs42481	0.93[EUR][1000 genomes]
rs425312	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs427854	0.92[EUR][1000 genomes]
rs43136	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs43229	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs438485	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs447989	0.89[EUR][1000 genomes]
rs6984540	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv520356	chr8:90823687-90857989	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2761448	chr8:90837630-90853986	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90837000-90847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr8:90839200-90848400	Weak transcription	Osteobl	bone
3	chr8:90840000-90847400	Weak transcription	A549	lung
4	chr8:90845000-90847600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:90845800-90848000	Flanking Active TSS	GM12878-XiMat	blood
6	chr8:90845800-90850200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:90846000-90850400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:90846000-90850600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr8:90846200-90847200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr8:90846200-90848000	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:90846200-90848200	Weak transcription	NHLF	lung
12	chr8:90846200-90848600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:90846400-90847600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:90846400-90847600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:90846600-90847000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:90846600-90847200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:90846600-90847200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr8:90846600-90847200	Weak transcription	NHDF-Ad	bronchial
19	chr8:90846600-90847400	Enhancers	Primary T cells from cord blood	blood
20	chr8:90846600-90847600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:90846600-90850000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:90846800-90847000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:90846800-90847000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr8:90846800-90848600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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