Variant report

Variant	rs4264385
Chromosome Location	chr16:82734237-82734238
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	chr16:82719977..82722521-chr16:82731834..82734582,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1037942	0.81[AFR][1000 genomes]
rs10871435	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1870848	1.00[AMR][1000 genomes]
rs9934012	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1059718	chr16:82564054-82810003	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv907023	chr16:82680391-82751932	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA	n/a	inside rSNPs	diseases
8	nsv1065303	chr16:82685793-82758280	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
9	nsv542999	chr16:82685793-82758280	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
10	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
11	nsv907024	chr16:82713874-82768568	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
12	esv2751616	chr16:82714696-82852296	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
13	nsv907025	chr16:82718030-82768568	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
14	nsv1067216	chr16:82719694-82821762	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
15	nsv543000	chr16:82719694-82821762	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82731800-82735200	Enhancers	Fetal Heart	heart
2	chr16:82732000-82734400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:82732000-82734400	Genic enhancers	HSMM	muscle
4	chr16:82732000-82738000	Enhancers	HSMMtube	muscle
5	chr16:82732200-82735800	Enhancers	NH-A	brain
6	chr16:82732400-82737800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:82732600-82734400	Enhancers	Brain Substantia Nigra	brain
8	chr16:82732600-82735400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:82732600-82735800	Enhancers	NHDF-Ad	bronchial
10	chr16:82732800-82734400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:82732800-82734600	Enhancers	Colon Smooth Muscle	Colon
12	chr16:82732800-82735200	Enhancers	HMEC	breast
13	chr16:82732800-82735200	Enhancers	NHEK	skin
14	chr16:82732800-82735200	Enhancers	Osteobl	bone
15	chr16:82732800-82735400	Enhancers	Brain Hippocampus Middle	brain
16	chr16:82732800-82735600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:82732800-82735600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:82732800-82735600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:82732800-82735800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr16:82733000-82735200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:82733000-82735400	Weak transcription	Lung	lung
22	chr16:82733000-82736800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr16:82733200-82734400	Weak transcription	Left Ventricle	heart
24	chr16:82733200-82735000	Weak transcription	Right Atrium	heart
25	chr16:82733200-82735200	Weak transcription	Aorta	Aorta
26	chr16:82733200-82735400	Weak transcription	Right Ventricle	heart
27	chr16:82733200-82735600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:82733200-82736000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr16:82733400-82736200	Enhancers	Hela-S3	cervix
30	chr16:82733400-82740600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr16:82733400-82746200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr16:82733600-82734800	Weak transcription	Brain Angular Gyrus	brain
33	chr16:82733600-82738200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr16:82733800-82735200	Enhancers	GM12878-XiMat	blood
35	chr16:82733800-82735400	Weak transcription	Adipose Nuclei	Adipose
36	chr16:82734000-82735000	Weak transcription	NHLF	lung
37	chr16:82734000-82735200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr16:82734000-82735200	Weak transcription	Fetal Muscle Leg	muscle
39	chr16:82734000-82735200	Weak transcription	Psoas Muscle	Psoas
40	chr16:82734000-82735400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:82734000-82735600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr16:82734200-82734400	Flanking Active TSS	HUVEC	blood vessel
43	chr16:82734200-82734600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:82734200-82735000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr16:82734200-82735000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr16:82734200-82735600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:82734200-82736200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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