Variant report

Variant	rs60297392
Chromosome Location	chr16:82812915-82812916
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55731405	1.00[AMR][1000 genomes]
rs58804740	1.00[AMR][1000 genomes]
rs58997376	1.00[AMR][1000 genomes]
rs59882642	1.00[AMR][1000 genomes]
rs60793770	1.00[AMR][1000 genomes]
rs74028590	1.00[AMR][1000 genomes]
rs74030806	1.00[AMR][1000 genomes]
rs74030809	1.00[AMR][1000 genomes]
rs74030810	1.00[AMR][1000 genomes]
rs74030811	1.00[AMR][1000 genomes]
rs74030812	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
6	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
7	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
8	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
9	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
10	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
11	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1063412	chr16:82806653-82826507	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82793000-82815200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:82803800-82815600	Weak transcription	HSMM	muscle
3	chr16:82804400-82816600	Weak transcription	Brain Hippocampus Middle	brain
4	chr16:82805600-82821600	Weak transcription	NHEK	skin
5	chr16:82806000-82813800	Weak transcription	Fetal Muscle Leg	muscle
6	chr16:82806800-82813000	Weak transcription	Aorta	Aorta
7	chr16:82806800-82813000	Weak transcription	Right Ventricle	heart
8	chr16:82806800-82816200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:82807000-82815400	Weak transcription	HSMMtube	muscle
10	chr16:82807200-82817800	Weak transcription	HMEC	breast
11	chr16:82808000-82824800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:82810200-82815200	Weak transcription	Primary B cells from cord blood	blood
13	chr16:82810600-82815200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr16:82810600-82815200	Weak transcription	HUVEC	blood vessel
15	chr16:82810600-82834800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:82810800-82821400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:82811200-82817000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:82811600-82816600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:82811800-82813000	Weak transcription	Left Ventricle	heart
20	chr16:82811800-82814400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr16:82811800-82815400	Weak transcription	Fetal Intestine Small	intestine
22	chr16:82812000-82821600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:82812400-82813400	Weak transcription	Fetal Heart	heart
24	chr16:82812400-82816400	Weak transcription	Fetal Intestine Large	intestine
25	chr16:82812800-82815800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr16:82812800-82816800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr16:82812800-82817200	Enhancers	Psoas Muscle	Psoas

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