Variant report

Variant	rs4967885
Chromosome Location	chr16:65102232-65102233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1040270	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1040271	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10500508	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12935138	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1356823	0.82[ASN][1000 genomes]
rs1520232	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1520236	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1532418	0.96[ASN][1000 genomes]
rs16968461	0.93[ASN][1000 genomes]
rs16968480	0.91[ASN][1000 genomes]
rs1850966	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1874457	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1915117	0.93[ASN][1000 genomes]
rs2088285	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2132543	0.92[ASN][1000 genomes]
rs2280396	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28216	0.80[EUR][1000 genomes]
rs34553411	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35054335	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35176	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35189	0.81[EUR][1000 genomes]
rs35709707	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4393595	0.96[ASN][1000 genomes]
rs4967868	0.89[ASN][1000 genomes]
rs4967884	0.82[ASN][1000 genomes]
rs4967886	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59954387	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7204729	0.91[ASN][1000 genomes]
rs7498801	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8048351	0.96[ASN][1000 genomes]
rs974782	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[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:56 , 50 per page) page: 1 2

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	chr16:65087400-65104800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr16:65087800-65103600	Weak transcription	Aorta	Aorta
5	chr16:65092200-65102600	Enhancers	Brain Angular Gyrus	brain
6	chr16:65093800-65103600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:65095000-65113400	Weak transcription	Lung	lung
8	chr16:65095800-65152000	Weak transcription	Fetal Intestine Large	intestine
9	chr16:65096200-65104800	Weak transcription	Fetal Kidney	kidney
10	chr16:65098200-65103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:65098400-65103600	Weak transcription	HMEC	breast
12	chr16:65098800-65105000	Enhancers	Ovary	ovary
13	chr16:65099200-65102400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr16:65100000-65103800	Weak transcription	Spleen	Spleen
15	chr16:65100600-65104600	Enhancers	Brain Substantia Nigra	brain
16	chr16:65100600-65104800	Enhancers	Brain Cingulate Gyrus	brain
17	chr16:65100800-65102600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:65100800-65104400	Enhancers	Brain Hippocampus Middle	brain
19	chr16:65100800-65104600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr16:65100800-65104800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:65101000-65103000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr16:65101000-65103600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr16:65101000-65103800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:65101200-65102600	Enhancers	Fetal Brain Male	brain
25	chr16:65101200-65102600	Enhancers	Fetal Stomach	stomach
26	chr16:65101200-65103400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:65101200-65103800	Enhancers	Brain Germinal Matrix	brain
28	chr16:65101200-65104000	Enhancers	Osteobl	bone
29	chr16:65101400-65104200	Enhancers	Fetal Lung	lung
30	chr16:65101400-65104400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:65101400-65104400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:65101400-65104800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:65101400-65104800	Weak transcription	Fetal Brain Female	brain
34	chr16:65101600-65102400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:65101600-65102400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:65101600-65102600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:65101600-65104800	Enhancers	Brain Anterior Caudate	brain
38	chr16:65101600-65104800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr16:65101600-65104800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr16:65101600-65105400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr16:65101800-65103000	Enhancers	Colon Smooth Muscle	Colon
42	chr16:65101800-65103400	Enhancers	HSMM	muscle
43	chr16:65101800-65105000	Enhancers	NHLF	lung
44	chr16:65102000-65102600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:65102000-65102800	Enhancers	Fetal Muscle Leg	muscle
46	chr16:65102000-65103000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr16:65102000-65103200	Enhancers	Rectal Smooth Muscle	rectum
48	chr16:65102000-65103400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr16:65102000-65103400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr16:65102000-65104800	Enhancers	Skeletal Muscle Male	skeletal muscle

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