Variant report

Variant	rs9788917
Chromosome Location	chr16:12268398-12268399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12267980..12269681-chr16:12271313..12273079,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11642364	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11642867	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11643843	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11644280	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11644612	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11646544	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11647545	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11647857	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12444353	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12445236	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12446101	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12447822	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1472979	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1809989	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3844114	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4781189	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4781190	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4781191	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4781192	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4781194	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4781195	0.94[ASN][1000 genomes]
rs4781196	0.95[ASN][1000 genomes]
rs55939888	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6498269	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6498270	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67401564	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7192589	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7193992	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7193997	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7197299	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7206824	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73504103	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73521875	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8046606	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs830717	0.84[CHB][hapmap]
rs9788826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1052973	chr16:12188092-12307880	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1039590	chr16:12237623-12279574	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12242200-12299400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr16:12242400-12280600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:12254200-12272000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:12254200-12277600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:12257000-12296800	Weak transcription	Thymus	Thymus
6	chr16:12261200-12293400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr16:12261200-12293600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr16:12261400-12292400	Weak transcription	GM12878-XiMat	blood
9	chr16:12261800-12322000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:12262000-12272000	Weak transcription	Aorta	Aorta
11	chr16:12262400-12277400	Weak transcription	NHEK	skin
12	chr16:12262600-12282200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr16:12263000-12271000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:12263200-12287600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr16:12264800-12271600	Weak transcription	Fetal Lung	lung
16	chr16:12264800-12272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:12265000-12277600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:12265200-12272000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr16:12265400-12271800	Weak transcription	Brain Angular Gyrus	brain
20	chr16:12265800-12269800	Weak transcription	Osteobl	bone
21	chr16:12265800-12271200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:12265800-12271600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:12265800-12271600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:12265800-12271600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:12265800-12274800	Weak transcription	Primary T cells from cord blood	blood
26	chr16:12266600-12268400	Enhancers	Left Ventricle	heart
27	chr16:12266800-12276800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr16:12267400-12268400	Weak transcription	Fetal Heart	heart
29	chr16:12267400-12277600	Weak transcription	Primary B cells from cord blood	blood
30	chr16:12267600-12268800	Enhancers	HepG2	liver
31	chr16:12267800-12268400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:12267800-12269000	Enhancers	Brain Hippocampus Middle	brain
33	chr16:12267800-12269000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr16:12268000-12268400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:12268000-12268400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr16:12268000-12268400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:12268000-12268400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr16:12268000-12268400	Enhancers	Esophagus	oesophagus
39	chr16:12268000-12268400	Enhancers	Gastric	stomach
40	chr16:12268000-12268400	Enhancers	Lung	lung
41	chr16:12268000-12268400	Enhancers	Pancreas	Pancrea
42	chr16:12268000-12268400	Enhancers	Right Atrium	heart
43	chr16:12268000-12268600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:12268000-12268600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr16:12268000-12268600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr16:12268000-12268600	Enhancers	Brain Cingulate Gyrus	brain
47	chr16:12268000-12268600	Enhancers	Duodenum Mucosa	Duodenum
48	chr16:12268000-12268600	Enhancers	Placenta	Placenta
49	chr16:12268000-12268600	Enhancers	Ovary	ovary
50	chr16:12268000-12268600	Enhancers	Small Intestine	intestine

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