Variant report

Variant	rs8049510
Chromosome Location	chr16:82079877-82079878
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82078303..82081047-chr16:82203000..82205229,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261029	Chromatin interaction
ENSG00000135698	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs7184155	0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7201121	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205168	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7205968	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs7206573	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8047385	0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8049006	0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8049750	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8050327	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8191072	0.84[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8191077	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8191080	0.84[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8191089	0.91[AFR][1000 genomes];0.87[AMR][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	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
4	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82070200-82083400	Weak transcription	Colonic Mucosa	Colon
2	chr16:82070800-82081200	Weak transcription	Pancreas	Pancrea
3	chr16:82074200-82085600	Enhancers	HepG2	liver
4	chr16:82075200-82082400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:82076600-82094800	Enhancers	Fetal Intestine Large	intestine
6	chr16:82077000-82083800	Weak transcription	Lung	lung
7	chr16:82077800-82080000	Enhancers	Brain Germinal Matrix	brain
8	chr16:82078000-82080000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:82078200-82080400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr16:82078200-82081000	Genic enhancers	Duodenum Mucosa	Duodenum
11	chr16:82078400-82080600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:82078400-82080600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:82078600-82081400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:82079000-82080000	Enhancers	Fetal Kidney	kidney
15	chr16:82079400-82080000	Genic enhancers	Liver	Liver
16	chr16:82079400-82081400	Enhancers	Esophagus	oesophagus
17	chr16:82079600-82080000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:82079800-82080200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr16:82079800-82080800	Weak transcription	Fetal Intestine Small	intestine
20	chr16:82079800-82080800	Weak transcription	Stomach Mucosa	stomach
21	chr16:82079800-82082800	Weak transcription	Placenta	Placenta
22	chr16:82079800-82082800	Weak transcription	Gastric	stomach
23	chr16:82079800-82082800	Weak transcription	Small Intestine	intestine
24	chr16:82079800-82084200	Weak transcription	Fetal Lung	lung

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