Variant report

Variant	rs719842
Chromosome Location	chr8:104369485-104369486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104367544..104369608-chr8:104383026..104384896,2	MCF-7	breast:
2	chr8:104363177..104365270-chr8:104368358..104371064,2	MCF-7	breast:
3	chr8:104367758..104370147-chr8:104374121..104376072,2	MCF-7	breast:
4	chr8:104365094..104368478-chr8:104368534..104371541,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164932	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2575700	0.91[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.81[MEX][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2687360	0.91[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3098228	0.96[GIH][hapmap];0.92[TSI][hapmap]
rs3098229	0.82[AMR][1000 genomes]
rs3098230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098232	0.96[GIH][hapmap];0.93[MEX][hapmap];0.92[TSI][hapmap]
rs3098241	0.87[MEX][hapmap]
rs3098254	0.96[GIH][hapmap];0.93[MEX][hapmap];0.92[TSI][hapmap]
rs3133799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133803	0.82[GIH][hapmap]
rs3133810	0.96[GIH][hapmap];0.93[MEX][hapmap];0.92[TSI][hapmap]
rs3133838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133839	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134254	0.87[MEX][hapmap]
rs719841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827576	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs827593	0.87[ASN][1000 genomes]
rs827596	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs827598	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription 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 target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv397277	chr8:104368395-104374284	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104357800-104383400	Weak transcription	Aorta	Aorta
2	chr8:104363000-104371800	Weak transcription	HSMMtube	muscle
3	chr8:104363200-104372200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:104366800-104372000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:104366800-104372000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:104367000-104371800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:104367200-104372400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:104368800-104370400	Enhancers	Brain Substantia Nigra	brain
9	chr8:104368800-104370600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:104368800-104370600	Enhancers	Brain Anterior Caudate	brain
11	chr8:104368800-104370600	Enhancers	Fetal Thymus	thymus
12	chr8:104368800-104370800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:104369000-104369800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:104369000-104370400	Enhancers	Brain Angular Gyrus	brain
15	chr8:104369000-104370600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:104369200-104370200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:104369200-104370400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:104369200-104370400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:104369200-104370400	Enhancers	Fetal Stomach	stomach
20	chr8:104369200-104370400	Enhancers	Thymus	Thymus
21	chr8:104369400-104369800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:104369400-104369800	Flanking Active TSS	NH-A	brain
23	chr8:104369400-104370000	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr8:104369400-104370000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:104369400-104370200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:104369400-104370200	Enhancers	Osteobl	bone
27	chr8:104369400-104370400	Enhancers	Brain Cingulate Gyrus	brain

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