Variant report

Variant	rs2433416
Chromosome Location	chr11:86412880-86412881
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	chr11:86411235..86420303-chr11:86507153..86518645,29	MCF-7	breast:
2	chr11:86411982..86413840-chr11:86417333..86419243,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1938930	0.87[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2433417	0.82[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.83[MEX][hapmap];0.92[MKK][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2433418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2512989	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs528948	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
6	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86386600-86431000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:86399600-86415800	Weak transcription	Fetal Heart	heart
3	chr11:86400600-86414800	Weak transcription	Ovary	ovary
4	chr11:86407000-86451600	Weak transcription	Left Ventricle	heart
5	chr11:86407600-86417000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:86408000-86413200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:86408000-86431400	Weak transcription	Aorta	Aorta
8	chr11:86408200-86413200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:86408400-86413200	Weak transcription	NHLF	lung
10	chr11:86409600-86413000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:86410200-86413200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:86410600-86413000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:86410600-86419800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:86410800-86416400	Weak transcription	A549	lung
15	chr11:86410800-86419400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:86410800-86420200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:86411000-86428000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:86411000-86429000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:86411200-86413400	Weak transcription	Psoas Muscle	Psoas
20	chr11:86411800-86413200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:86412400-86413800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:86412400-86418800	Enhancers	Colon Smooth Muscle	Colon
23	chr11:86412600-86413600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:86412600-86413600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:86412600-86413800	Enhancers	NHDF-Ad	bronchial
26	chr11:86412600-86414400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:86412800-86414600	Enhancers	Rectal Smooth Muscle	rectum

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