Variant report

Variant	rs11784930
Chromosome Location	chr8:125878586-125878587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125794468..125796266-chr8:125877977..125879830,2	MCF-7	breast:
2	chr8:125878085..125882426-chr8:125889275..125893034,5	MCF-7	breast:
3	chr8:125738820..125741858-chr8:125878076..125881062,3	MCF-7	breast:
4	chr8:125876735..125880494-chr8:125880552..125885100,4	K562	blood:
5	chr8:125877925..125881102-chr8:125882727..125885100,3	K562	blood:
6	chr8:125877381..125879616-chr8:125926000..125927902,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10109611	0.81[AFR][1000 genomes]
rs10110021	0.90[EUR][1000 genomes]
rs10956220	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11774426	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11987239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988572	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990757	0.85[CEU][hapmap]
rs12542397	0.96[CEU][hapmap]
rs12547431	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12549299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13272895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513649	0.99[EUR][1000 genomes]
rs4870928	0.92[CEU][hapmap]
rs4871558	1.00[YRI][hapmap]
rs4871560	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4871562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871564	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871565	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62530623	0.90[EUR][1000 genomes]
rs6470289	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6470290	0.85[CEU][hapmap]
rs6470296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470313	0.85[CEU][hapmap]
rs6985287	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987095	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6992468	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7016398	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7016748	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7464057	0.90[EUR][1000 genomes]
rs7819144	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827416	0.80[AFR][1000 genomes]
rs7835994	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7845282	0.85[CEU][hapmap]
rs9694326	1.00[CEU][hapmap];0.98[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125870200-125879000	Weak transcription	Fetal Heart	heart
2	chr8:125870600-125879200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:125871000-125885200	Weak transcription	Esophagus	oesophagus
4	chr8:125873800-125880200	Weak transcription	Left Ventricle	heart
5	chr8:125874400-125884800	Weak transcription	Right Atrium	heart
6	chr8:125874600-125878600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:125874800-125879200	Weak transcription	Right Ventricle	heart
8	chr8:125877000-125879800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:125877000-125879800	Enhancers	NHDF-Ad	bronchial
10	chr8:125878000-125879400	Enhancers	HSMMtube	muscle
11	chr8:125878000-125879600	Enhancers	HSMM	muscle
12	chr8:125878000-125879600	Enhancers	NH-A	brain
13	chr8:125878000-125879800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:125878000-125879800	Enhancers	HMEC	breast
15	chr8:125878000-125879800	Enhancers	NHEK	skin
16	chr8:125878000-125880000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:125878000-125880600	Enhancers	NHLF	lung
18	chr8:125878000-125881000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:125878000-125881000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr8:125878200-125878600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:125878200-125879000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:125878200-125879400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr8:125878200-125879600	Enhancers	Osteobl	bone
24	chr8:125878200-125879800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:125878200-125879800	Enhancers	K562	blood
26	chr8:125878200-125880400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:125878200-125880800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:125878200-125880800	Enhancers	HUVEC	blood vessel
29	chr8:125878400-125878800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr8:125878400-125879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:125878400-125879200	Weak transcription	Psoas Muscle	Psoas
32	chr8:125878400-125879200	Enhancers	Hela-S3	cervix
33	chr8:125878400-125879600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr8:125878400-125879800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:125878400-125880000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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