Variant report

Variant	rs8045447
Chromosome Location	chr16:82781163-82781164
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1000078	0.85[YRI][hapmap]
rs1462044	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs17183029	0.85[YRI][hapmap]
rs2325684	0.83[YRI][hapmap]
rs2875708	0.83[YRI][hapmap]
rs2875709	0.82[YRI][hapmap]
rs41345948	1.00[YRI][hapmap]
rs4307943	0.81[AFR][1000 genomes]
rs4395068	0.83[AFR][1000 genomes]
rs4506891	0.83[YRI][hapmap]
rs4517792	0.85[AFR][1000 genomes]
rs55919647	1.00[AMR][1000 genomes]
rs61355622	1.00[AMR][1000 genomes]
rs7189103	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7189439	1.00[AMR][1000 genomes]
rs7193530	1.00[AMR][1000 genomes]
rs7196302	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs7197336	0.85[YRI][hapmap]
rs7197344	0.85[YRI][hapmap]
rs7202671	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs735923	0.82[YRI][hapmap]
rs73603152	1.00[AMR][1000 genomes]
rs8044993	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs8045343	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs8045359	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs8046098	0.85[YRI][hapmap]
rs8048570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048858	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049363	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049419	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8054331	1.00[AMR][1000 genomes]
rs8056117	1.00[AMR][1000 genomes]
rs8058705	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8059730	1.00[AMR][1000 genomes]
rs8060336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8060604	1.00[AMR][1000 genomes]
rs8060659	1.00[AMR][1000 genomes]
rs8060965	1.00[AMR][1000 genomes]
rs8061413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063356	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv1064438	chr16:82762729-82788901	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv907026	chr16:82765607-82812853	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1066132	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv543001	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv573380	chr16:82770272-82781423	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82766800-82788600	Weak transcription	HMEC	breast
2	chr16:82768600-82784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:82769200-82785200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:82770000-82782800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:82771000-82781400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:82774200-82781400	Weak transcription	Aorta	Aorta
7	chr16:82774400-82792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:82774600-82787400	Weak transcription	NHEK	skin
9	chr16:82780400-82781800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr16:82780400-82782000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr16:82780600-82781400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr16:82780600-82781400	Enhancers	HUVEC	blood vessel
13	chr16:82780600-82781600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr16:82780600-82781800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr16:82780600-82782000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr16:82780600-82782200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr16:82781000-82781600	Weak transcription	Osteobl	bone
18	chr16:82781000-82782000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr16:82781000-82782000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr16:82781000-82782200	Enhancers	Brain Germinal Matrix	brain
21	chr16:82781000-82782200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr16:82781000-82782400	Enhancers	HSMMtube	muscle
23	chr16:82781000-82782600	Enhancers	HSMM	muscle

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