Variant report

Variant	rs8048888
Chromosome Location	chr16:82682074-82682075
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	chr16:82680839..82682470-chr16:82683350..82685003,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16957960	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16958020	0.80[AFR][1000 genomes]
rs56225555	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60403193	0.95[AFR][1000 genomes]
rs60477134	0.85[AFR][1000 genomes]
rs74030910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030925	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030928	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051643	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs8061983	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs8062352	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs8062745	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1065896	chr16:82213517-82731994	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv833305	chr16:82563888-82722084	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	esv275004	chr16:82679532-82682487	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv907022	chr16:82680391-82718030	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82672200-82685800	Weak transcription	HSMMtube	muscle
2	chr16:82673800-82685600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:82675400-82682800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:82675400-82682800	Weak transcription	HMEC	breast
5	chr16:82675600-82682400	Weak transcription	HSMM	muscle
6	chr16:82675600-82683000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr16:82677200-82683800	Weak transcription	GM12878-XiMat	blood
8	chr16:82678000-82685600	Weak transcription	Fetal Muscle Leg	muscle
9	chr16:82678000-82687000	Weak transcription	Lung	lung
10	chr16:82678200-82682600	Weak transcription	NHEK	skin
11	chr16:82678400-82683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:82678400-82687000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:82679000-82685200	Weak transcription	Osteobl	bone
14	chr16:82679000-82685400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:82679200-82686800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr16:82679400-82683000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:82679400-82683200	Weak transcription	NH-A	brain
18	chr16:82679400-82686800	Weak transcription	Fetal Heart	heart
19	chr16:82679600-82685200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr16:82679800-82687200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:82680400-82683200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:82680800-82682800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:82680800-82683000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr16:82681000-82685800	Weak transcription	Right Ventricle	heart
25	chr16:82681200-82687000	Weak transcription	Colonic Mucosa	Colon
26	chr16:82681400-82683000	Weak transcription	Left Ventricle	heart
27	chr16:82681600-82682800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:82681600-82682800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr16:82681600-82683000	Weak transcription	Psoas Muscle	Psoas

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