Variant report

Variant	rs16886939
Chromosome Location	chr7:80741542-80741543
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80740607..80742830-chr7:80744233..80747144,2	MCF-7	breast:
2	chr7:80722580..80725248-chr7:80741058..80743556,2	MCF-7	breast:
3	chr7:80740054..80742115-chr7:80745636..80747771,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10243366	1.00[EUR][1000 genomes]
rs10499866	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10499867	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10499868	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1406391	1.00[EUR][1000 genomes]
rs17154625	1.00[EUR][1000 genomes]
rs17154734	1.00[EUR][1000 genomes]
rs17154781	0.90[AMR][1000 genomes]
rs17154789	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1881542	1.00[EUR][1000 genomes]
rs2367107	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3891959	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56661645	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56923909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56992458	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59232679	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59248712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59283036	1.00[EUR][1000 genomes]
rs59515047	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60302424	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61022986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61242250	1.00[EUR][1000 genomes]
rs6945017	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6947445	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6954567	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6954716	1.00[EUR][1000 genomes]
rs6955012	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6955165	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6955495	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6978218	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6978720	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7780684	1.00[EUR][1000 genomes]
rs7801407	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv888552	chr7:80683308-80755310	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv888553	chr7:80683308-80766407	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv888554	chr7:80695828-80755310	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv888555	chr7:80695828-80766407	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv888556	chr7:80695828-80797794	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80738400-80743400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr7:80739800-80741600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:80739800-80742400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:80739800-80742400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:80739800-80743200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:80740200-80741600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:80740200-80741600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:80740200-80741800	Enhancers	NH-A	brain
9	chr7:80740200-80741800	Enhancers	Osteobl	bone
10	chr7:80740200-80742400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:80740200-80743600	Enhancers	Colon Smooth Muscle	Colon
12	chr7:80740800-80741800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:80740800-80741800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:80740800-80742000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:80740800-80742600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:80741000-80741600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:80741200-80741600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:80741200-80741600	Active TSS	Brain Hippocampus Middle	brain
19	chr7:80741200-80741600	Active TSS	Stomach Smooth Muscle	stomach
20	chr7:80741200-80741800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:80741200-80742000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:80741200-80742600	Enhancers	Brain Substantia Nigra	brain
23	chr7:80741200-80742600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr7:80741400-80741800	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr7:80741400-80742400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:80741400-80744000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:80741400-80744000	Weak transcription	HMEC	breast
28	chr7:80741400-80746600	Weak transcription	Fetal Lung	lung

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