Variant report

Variant	rs12598268
Chromosome Location	chr16:65088804-65088805
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1124695	0.82[CHB][hapmap];0.91[YRI][hapmap]
rs1402020	0.85[MEX][hapmap]
rs1554401	0.81[CHB][hapmap];0.86[CHD][hapmap];0.85[MEX][hapmap];0.92[MKK][hapmap]
rs16942787	0.82[CHB][hapmap];0.86[CHD][hapmap];0.85[MEX][hapmap]
rs16956488	0.81[CHB][hapmap];0.91[YRI][hapmap]
rs3785315	0.84[ASW][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.85[MEX][hapmap];0.96[MKK][hapmap];0.91[YRI][hapmap]
rs73579797	0.83[AMR][1000 genomes]
rs73581614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73581618	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65039000-65089600	Weak transcription	Fetal Intestine Large	intestine
2	chr16:65058600-65104400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:65069800-65105000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr16:65072800-65096200	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:65074400-65094000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:65079000-65093000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr16:65080200-65091000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:65081800-65094800	Weak transcription	Lung	lung
9	chr16:65082800-65093200	Strong transcription	NH-A	brain
10	chr16:65083800-65100000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr16:65085000-65095800	Weak transcription	Fetal Brain Female	brain
12	chr16:65085400-65089000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:65087400-65104800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr16:65087600-65089200	Weak transcription	Brain Germinal Matrix	brain
15	chr16:65087800-65089000	Weak transcription	Fetal Muscle Leg	muscle
16	chr16:65087800-65090400	Weak transcription	HMEC	breast
17	chr16:65087800-65091000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:65087800-65100600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr16:65087800-65102000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr16:65087800-65103600	Weak transcription	Aorta	Aorta
21	chr16:65088000-65089000	Genic enhancers	Osteobl	bone
22	chr16:65088000-65089200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr16:65088000-65089200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr16:65088000-65089600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr16:65088000-65089600	Genic enhancers	HSMM	muscle
26	chr16:65088000-65091200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:65088000-65093800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:65088000-65095600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:65088200-65089200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:65088200-65089200	Genic enhancers	Fetal Lung	lung
31	chr16:65088200-65089200	Enhancers	NHDF-Ad	bronchial
32	chr16:65088200-65089200	Enhancers	NHLF	lung
33	chr16:65088200-65089600	Enhancers	Brain Angular Gyrus	brain
34	chr16:65088200-65089600	Enhancers	HSMMtube	muscle
35	chr16:65088200-65091000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:65088200-65093200	Enhancers	Brain Anterior Caudate	brain
37	chr16:65088200-65101600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr16:65088400-65089000	Weak transcription	Placenta	Placenta
39	chr16:65088400-65089200	Enhancers	Ovary	ovary
40	chr16:65088400-65089400	Enhancers	Brain Cingulate Gyrus	brain
41	chr16:65088400-65090400	Enhancers	Brain Hippocampus Middle	brain
42	chr16:65088400-65091000	Weak transcription	Fetal Kidney	kidney
43	chr16:65088400-65093600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr16:65088600-65089000	Enhancers	Fetal Stomach	stomach
45	chr16:65088600-65089000	Enhancers	Spleen	Spleen
46	chr16:65088600-65089400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr16:65088600-65093400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr16:65088800-65089000	Enhancers	Brain Substantia Nigra	brain
49	chr16:65088800-65089000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr16:65088800-65089400	Enhancers	Fetal Brain Male	brain

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