Variant report

Variant	rs674481
Chromosome Location	chr11:86354498-86354499
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	chr11:86352044..86355103-chr11:86509980..86513018,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12281596	1.00[ASN][1000 genomes]
rs480290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs484481	1.00[ASN][1000 genomes]
rs503195	1.00[ASN][1000 genomes]
rs530278	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs561363	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs566633	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs591474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs595031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs619829	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs642780	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs643157	1.00[ASN][1000 genomes]
rs661115	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs668984	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs672280	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs673118	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs688079	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	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
5	nsv555704	chr11:86344677-86386784	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr11:86340000-86357200	Weak transcription	Fetal Brain Female	brain
2	chr11:86341000-86355400	Weak transcription	Adipose Nuclei	Adipose
3	chr11:86341600-86358800	Weak transcription	Brain Anterior Caudate	brain
4	chr11:86342200-86356400	Weak transcription	Fetal Stomach	stomach
5	chr11:86344000-86373800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:86344600-86354600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:86344800-86355400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:86344800-86355800	Weak transcription	Pancreas	Pancrea
9	chr11:86346600-86359600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:86348800-86361600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:86349400-86356000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:86350600-86355000	Weak transcription	HMEC	breast
13	chr11:86350600-86355000	Weak transcription	NHLF	lung
14	chr11:86350600-86355200	Weak transcription	NH-A	brain
15	chr11:86350800-86354800	Weak transcription	NHDF-Ad	bronchial
16	chr11:86350800-86355200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:86350800-86355400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:86351000-86355000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:86351800-86354800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:86351800-86355800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:86352400-86355400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:86352600-86360600	Weak transcription	A549	lung
23	chr11:86353200-86355000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:86353200-86356200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:86353400-86354800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:86353400-86354800	Weak transcription	Osteobl	bone
27	chr11:86353400-86355200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr11:86353400-86355400	Weak transcription	HSMM	muscle
29	chr11:86353600-86354800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:86353600-86355000	Enhancers	Psoas Muscle	Psoas
31	chr11:86354000-86356000	Enhancers	Ovary	ovary
32	chr11:86354000-86356600	Weak transcription	Aorta	Aorta
33	chr11:86354400-86356000	Weak transcription	Left Ventricle	heart

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