Variant report

Variant	rs1904190
Chromosome Location	chr16:80232011-80232012
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	chr16:80217075..80218900-chr16:80231657..80233649,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10048095	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10514490	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12102352	0.82[AMR][1000 genomes]
rs12103219	0.87[AMR][1000 genomes]
rs12922305	0.88[ASN][1000 genomes]
rs13335223	0.94[AMR][1000 genomes]
rs13335540	0.94[AMR][1000 genomes]
rs13338017	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1478510	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16944275	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16952569	0.82[AMR][1000 genomes]
rs16952593	0.80[ASN][1000 genomes]
rs16952595	0.87[AMR][1000 genomes]
rs16952668	0.87[ASN][1000 genomes]
rs1862698	0.82[AMR][1000 genomes]
rs1904189	0.96[ASN][1000 genomes]
rs2069011	0.94[AMR][1000 genomes]
rs28396536	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34282621	0.87[ASN][1000 genomes]
rs34421000	0.85[ASN][1000 genomes]
rs55916224	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57251439	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7191109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73577642	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs74028037	0.80[ASN][1000 genomes]
rs74028046	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs74028051	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7499082	0.80[ASN][1000 genomes]
rs9934786	0.88[AMR][1000 genomes];0.96[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	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1055228	chr16:80207546-80378842	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1061068	chr16:80207546-80537052	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1064093	chr16:80208443-80333301	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv542985	chr16:80208443-80333301	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1059997	chr16:80209367-80247050	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1063466	chr16:80227628-80360463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv3450239	chr16:80229851-80232449	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv906996	chr16:80230224-80334010	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80223400-80232200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:80231400-80233000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr16:80231400-80233000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:80231400-80233200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:80231400-80233200	Flanking Active TSS	A549	lung
6	chr16:80231400-80233200	Enhancers	HSMM	muscle
7	chr16:80231400-80233200	Enhancers	HUVEC	blood vessel
8	chr16:80231400-80233200	Enhancers	NHDF-Ad	bronchial
9	chr16:80231400-80233400	Enhancers	Osteobl	bone
10	chr16:80231400-80233600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:80231600-80232400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:80231600-80232400	Enhancers	Fetal Stomach	stomach
13	chr16:80231600-80232400	Enhancers	HSMMtube	muscle
14	chr16:80231600-80232600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:80231600-80233000	Enhancers	Brain Germinal Matrix	brain
16	chr16:80231600-80233200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:80231600-80233200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:80231600-80233200	Enhancers	Fetal Lung	lung
19	chr16:80231600-80233200	Enhancers	HepG2	liver
20	chr16:80231800-80232200	Active TSS	NHLF	lung
21	chr16:80232000-80232200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:80232000-80232200	Flanking Active TSS	HMEC	breast
23	chr16:80232000-80232200	Flanking Active TSS	NH-A	brain
24	chr16:80232000-80232400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:80232000-80232400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr16:80232000-80232400	Weak transcription	Fetal Muscle Leg	muscle
27	chr16:80232000-80232400	Flanking Active TSS	NHEK	skin
28	chr16:80232000-80233000	Enhancers	Hela-S3	cervix
29	chr16:80232000-80233400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr16:80232000-80237000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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