Variant report

Variant	rs56180983
Chromosome Location	chr8:90848555-90848556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:90844734..90847246-chr8:90847760..90849982,2	MCF-7	breast:
2	chr8:90768306..90772219-chr8:90848541..90851274,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16900442	0.83[AMR][1000 genomes]
rs16900823	1.00[AMR][1000 genomes]
rs16900885	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16900910	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16900915	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16900927	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16900928	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16900996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56729468	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59398315	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59483185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61138709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61327386	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694500	0.83[AMR][1000 genomes]
rs73696804	1.00[AMR][1000 genomes]
rs73696806	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696812	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696816	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7819919	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7822697	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7835597	0.83[AMR][1000 genomes]
rs966597	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9785090	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9969533	0.82[AFR][1000 genomes];1.00[AMR][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90845800-90850200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:90846000-90850400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:90846000-90850600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr8:90846200-90848600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:90846600-90850000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:90846800-90848600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:90847200-90848600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:90847200-90848600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:90847200-90849000	Enhancers	HUVEC	blood vessel
10	chr8:90847200-90849000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr8:90847200-90849000	Enhancers	NHDF-Ad	bronchial
12	chr8:90847200-90849800	Enhancers	Primary B cells from peripheral blood	blood
13	chr8:90847200-90850200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:90847400-90849200	Enhancers	A549	lung
15	chr8:90847600-90848600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:90847600-90849000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:90847600-90849000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:90847600-90850000	Enhancers	Stomach Mucosa	stomach
19	chr8:90847600-90860600	Weak transcription	Aorta	Aorta
20	chr8:90848000-90849000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:90848000-90849200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:90848000-90850200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:90848200-90849200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:90848200-90849200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:90848200-90850200	Enhancers	NHLF	lung
26	chr8:90848400-90848600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:90848400-90848800	Flanking Active TSS	GM12878-XiMat	blood
28	chr8:90848400-90849000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:90848400-90849000	Enhancers	NH-A	brain
30	chr8:90848400-90849000	Weak transcription	NHEK	skin
31	chr8:90848400-90850200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr8:90848400-90850200	Enhancers	Osteobl	bone
33	chr8:90848400-90850400	Enhancers	Primary T cells from cord blood	blood

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