Variant report

Variant	rs7204729
Chromosome Location	chr16:65093379-65093380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1025311	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1040270	0.87[CHB][hapmap];0.90[ASN][1000 genomes]
rs1040271	0.87[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs10500508	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs1079008	1.00[CEU][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12597529	0.88[EUR][1000 genomes]
rs12925954	0.88[EUR][1000 genomes]
rs12935138	0.90[ASN][1000 genomes]
rs1356823	0.86[ASN][1000 genomes]
rs1520231	1.00[CEU][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1520232	0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs1520236	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs1520241	0.88[EUR][1000 genomes]
rs1520243	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1532418	0.87[CHB][hapmap];0.82[CHD][hapmap];0.90[ASN][1000 genomes]
rs16968461	0.92[CHB][hapmap];0.86[ASN][1000 genomes]
rs16968480	0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs1908723	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1915117	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs2088285	0.87[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs2132543	0.85[ASN][1000 genomes]
rs34553411	0.87[ASN][1000 genomes]
rs35054335	0.88[ASN][1000 genomes]
rs35263777	0.93[EUR][1000 genomes]
rs35709707	0.88[ASN][1000 genomes]
rs4393595	0.90[ASN][1000 genomes]
rs4967866	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs4967868	0.81[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs4967885	0.91[ASN][1000 genomes]
rs4967886	0.87[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs7498801	0.94[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.96[ASN][1000 genomes]
rs765771	0.84[CEU][hapmap]
rs8048351	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs909003	1.00[CEU][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs973200	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs974782	0.87[ASN][1000 genomes]
rs9935608	1.00[CEU][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948640	chr16:64859061-65112790	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	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
3	nsv1831	chr16:65071976-65106105	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65058600-65104400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:65069800-65105000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr16:65072800-65096200	Weak transcription	Colon Smooth Muscle	Colon
4	chr16:65074400-65094000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:65081800-65094800	Weak transcription	Lung	lung
6	chr16:65083800-65100000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:65085000-65095800	Weak transcription	Fetal Brain Female	brain
8	chr16:65087400-65104800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr16:65087800-65100600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr16:65087800-65102000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr16:65087800-65103600	Weak transcription	Aorta	Aorta
12	chr16:65088000-65093800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:65088000-65095600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:65088200-65101600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr16:65088400-65093600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:65088600-65093400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr16:65088800-65093400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:65089400-65098000	Weak transcription	Fetal Muscle Leg	muscle
19	chr16:65089400-65101200	Weak transcription	Fetal Brain Male	brain
20	chr16:65089600-65095600	Weak transcription	HSMMtube	muscle
21	chr16:65090400-65093400	Strong transcription	Fetal Lung	lung
22	chr16:65090400-65099800	Enhancers	Brain Cingulate Gyrus	brain
23	chr16:65090800-65093800	Enhancers	Brain Hippocampus Middle	brain
24	chr16:65090800-65094800	Weak transcription	NHDF-Ad	bronchial
25	chr16:65091400-65097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:65091600-65095800	Weak transcription	Fetal Kidney	kidney
27	chr16:65091800-65094800	Weak transcription	NHLF	lung
28	chr16:65092000-65095800	Weak transcription	HSMM	muscle
29	chr16:65092000-65096200	Weak transcription	Ovary	ovary
30	chr16:65092000-65097800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr16:65092000-65098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:65092200-65093400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:65092200-65093400	Weak transcription	Fetal Stomach	stomach
34	chr16:65092200-65102600	Enhancers	Brain Angular Gyrus	brain
35	chr16:65092600-65095200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:65092800-65094400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:65093000-65093400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr16:65093000-65093400	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr16:65093000-65093800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:65093000-65094000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr16:65093000-65094200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr16:65093000-65094400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:65093200-65093400	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr16:65093200-65093600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr16:65093200-65093800	Weak transcription	NH-A	brain
46	chr16:65093200-65094200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:65093200-65094200	Weak transcription	Osteobl	bone
48	chr16:65093200-65094800	Weak transcription	Pancreas	Pancrea

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