Variant report

Variant	rs3096717
Chromosome Location	chr11:86458673-86458674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86458568..86460122-chr11:86480942..86482855,2	MCF-7	breast:
2	chr11:86457948..86461057-chr11:86510735..86514015,4	MCF-7	breast:
3	chr11:86457023..86458729-chr11:86462565..86464794,3	MCF-7	breast:
4	chr11:86457732..86459535-chr11:86470055..86471597,2	MCF-7	breast:
5	chr11:86346528..86348844-chr11:86457417..86460033,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1075702	0.90[ASN][1000 genomes]
rs11234783	0.93[ASN][1000 genomes]
rs2433433	0.94[ASN][1000 genomes]
rs2433434	0.94[ASN][1000 genomes]
rs2433435	0.95[ASN][1000 genomes]
rs2433436	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2433438	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2433439	0.94[ASN][1000 genomes]
rs2433440	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2433441	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2512978	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2512979	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2513004	0.88[ASN][1000 genomes]
rs2513005	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2513018	0.91[ASN][1000 genomes]
rs2513019	0.89[ASN][1000 genomes]
rs3096715	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3096716	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3096718	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4245426	0.92[ASN][1000 genomes]
rs4943957	0.93[ASN][1000 genomes]
rs4944629	0.93[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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv468775	chr11:86453415-86480716	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv555705	chr11:86453415-86480716	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86450200-86459800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr11:86453400-86459200	Weak transcription	Brain Anterior Caudate	brain
3	chr11:86453400-86459600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:86453800-86459200	Weak transcription	Ovary	ovary
5	chr11:86454000-86474000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:86454400-86459200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:86454800-86460600	Weak transcription	Adipose Nuclei	Adipose
8	chr11:86455000-86460400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:86455000-86461000	Weak transcription	Fetal Lung	lung
10	chr11:86455000-86461200	Enhancers	Osteobl	bone
11	chr11:86455000-86461600	Enhancers	NHDF-Ad	bronchial
12	chr11:86455000-86462400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:86455200-86459000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:86455200-86460600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:86455200-86460800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:86455200-86464600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:86456200-86459800	Enhancers	NH-A	brain
18	chr11:86456200-86462400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:86456400-86461400	Enhancers	HSMM	muscle
20	chr11:86456600-86461400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:86456600-86461600	Enhancers	HSMMtube	muscle
22	chr11:86456600-86478000	Weak transcription	Aorta	Aorta
23	chr11:86456800-86459200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:86456800-86459800	Enhancers	A549	lung
25	chr11:86456800-86461200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:86457000-86459000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:86457000-86460600	Weak transcription	Psoas Muscle	Psoas
28	chr11:86457200-86460000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:86457400-86461400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:86457600-86461400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:86458000-86458800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:86458000-86459000	Weak transcription	Hela-S3	cervix
33	chr11:86458000-86459000	Weak transcription	HMEC	breast
34	chr11:86458000-86460600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:86458000-86460800	Enhancers	NHLF	lung
36	chr11:86458000-86461200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:86458200-86459200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:86458200-86459200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:86458200-86459200	Weak transcription	Fetal Heart	heart
40	chr11:86458200-86461400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:86458400-86459800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:86458400-86460600	Weak transcription	Fetal Stomach	stomach
43	chr11:86458600-86460400	Weak transcription	Fetal Muscle Leg	muscle

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