Variant report

Variant	rs12051500
Chromosome Location	chr16:65150301-65150302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12232421	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12443573	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16968496	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16968497	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16968508	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7193430	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7195772	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7200327	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833260	chr16:65050647-65218759	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv34131	chr16:65137094-65379496	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65095800-65152000	Weak transcription	Fetal Intestine Large	intestine
2	chr16:65106800-65151800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:65144400-65150800	Genic enhancers	Fetal Lung	lung
4	chr16:65144600-65153000	Weak transcription	Placenta	Placenta
5	chr16:65144600-65154000	Weak transcription	Spleen	Spleen
6	chr16:65146000-65150600	Strong transcription	HSMM	muscle
7	chr16:65147200-65151800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:65147400-65150400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:65147400-65150400	Strong transcription	HSMMtube	muscle
10	chr16:65147400-65150600	Enhancers	Brain Hippocampus Middle	brain
11	chr16:65147400-65152800	Genic enhancers	Fetal Stomach	stomach
12	chr16:65148000-65151600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:65148200-65150600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr16:65148200-65151000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr16:65148200-65151600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr16:65148200-65151600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:65148400-65150400	Enhancers	Brain Substantia Nigra	brain
18	chr16:65148400-65151400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:65148600-65150400	Genic enhancers	Osteobl	bone
20	chr16:65148600-65151400	Genic enhancers	NH-A	brain
21	chr16:65148600-65152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:65148600-65152800	Weak transcription	NHEK	skin
23	chr16:65148800-65150600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr16:65148800-65150600	Enhancers	Fetal Brain Female	brain
25	chr16:65148800-65150800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:65148800-65150800	Weak transcription	NHDF-Ad	bronchial
27	chr16:65148800-65150800	Weak transcription	NHLF	lung
28	chr16:65148800-65151000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr16:65149000-65151600	Weak transcription	Fetal Muscle Leg	muscle
30	chr16:65149200-65150600	Enhancers	Brain Anterior Caudate	brain
31	chr16:65149200-65151800	Weak transcription	HMEC	breast
32	chr16:65149600-65150600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:65149600-65151600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr16:65149600-65151600	Enhancers	Brain Cingulate Gyrus	brain
35	chr16:65149600-65153200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:65149800-65150600	Enhancers	Brain Angular Gyrus	brain
37	chr16:65149800-65150600	Genic enhancers	Ovary	ovary
38	chr16:65149800-65151000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr16:65149800-65152000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:65150000-65150400	Enhancers	Aorta	Aorta
41	chr16:65150000-65151000	Active TSS	Brain Germinal Matrix	brain
42	chr16:65150000-65151000	Flanking Active TSS	Fetal Brain Male	brain
43	chr16:65150000-65151600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr16:65150000-65151800	Enhancers	Fetal Kidney	kidney
45	chr16:65150000-65152000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:65150000-65153600	Enhancers	Rectal Smooth Muscle	rectum
47	chr16:65150200-65150400	Enhancers	Stomach Smooth Muscle	stomach
48	chr16:65150200-65150600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr16:65150200-65150600	Weak transcription	Colon Smooth Muscle	Colon
50	chr16:65150200-65150800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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