Variant report

Variant	rs9940535
Chromosome Location	chr16:81464827-81464828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11866931	0.89[EUR][1000 genomes]
rs13335052	0.89[EUR][1000 genomes]
rs16955319	0.89[EUR][1000 genomes]
rs34441922	0.89[EUR][1000 genomes]
rs34797363	0.89[EUR][1000 genomes]
rs4613060	0.89[EUR][1000 genomes]
rs7186064	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7186540	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7188374	0.89[EUR][1000 genomes]
rs7191231	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7191804	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7201488	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7205597	0.89[EUR][1000 genomes]
rs72835160	0.89[EUR][1000 genomes]
rs72835164	0.89[EUR][1000 genomes]
rs72835165	0.89[EUR][1000 genomes]
rs72835171	0.89[EUR][1000 genomes]
rs72835178	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046466	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9888977	0.89[EUR][1000 genomes]
rs9889135	0.89[EUR][1000 genomes]
rs9889175	0.89[EUR][1000 genomes]
rs9889186	0.89[EUR][1000 genomes]
rs9889196	0.89[EUR][1000 genomes]
rs9927898	1.00[EUR][1000 genomes]
rs9934987	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9935485	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81455600-81465400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr16:81458800-81465400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr16:81459200-81465200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr16:81459400-81465200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr16:81459400-81465600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:81461000-81465400	Weak transcription	Spleen	Spleen
7	chr16:81463000-81465000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr16:81463000-81465000	Weak transcription	NHDF-Ad	bronchial
9	chr16:81463000-81465200	Weak transcription	Placenta	Placenta
10	chr16:81463000-81465400	Weak transcription	Brain Substantia Nigra	brain
11	chr16:81463000-81466600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr16:81463200-81465000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr16:81463200-81465200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr16:81463200-81465200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr16:81463200-81465200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr16:81463200-81465800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:81463200-81466600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr16:81463200-81466600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr16:81463200-81466800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr16:81463200-81469400	Weak transcription	Pancreas	Pancrea
21	chr16:81463200-81471600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:81463400-81465200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:81463400-81465200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:81463600-81466800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:81464600-81465600	Enhancers	Liver	Liver
26	chr16:81464600-81466000	Flanking Active TSS	HepG2	liver
27	chr16:81464600-81467600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr16:81464800-81465000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:81464800-81465000	Enhancers	A549	lung
30	chr16:81464800-81465200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:81464800-81465200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:81464800-81465200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:81464800-81465200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:81464800-81465200	Enhancers	Adipose Nuclei	Adipose
35	chr16:81464800-81465200	Enhancers	GM12878-XiMat	blood
36	chr16:81464800-81465400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:81464800-81465800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr16:81464800-81465800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr16:81464800-81466000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr16:81464800-81466000	Enhancers	Dnd41	blood
41	chr16:81464800-81466000	Enhancers	K562	blood
42	chr16:81464800-81466200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:81464800-81466200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr16:81464800-81466200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr16:81464800-81466200	Enhancers	Osteobl	bone
46	chr16:81464800-81467200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr16:81464800-81467200	Enhancers	Fetal Muscle Leg	muscle
48	chr16:81464800-81467400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr16:81464800-81469000	Enhancers	Fetal Thymus	thymus

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