Variant report

Variant	rs1704094
Chromosome Location	chr16:12261329-12261330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12260496..12262911-chr16:12270695..12272888,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11642667	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1701111	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1704130	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2456272	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2968353	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs709418	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs709419	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs709421	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs709422	0.86[AMR][1000 genomes]
rs8062913	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs830696	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs830698	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs830700	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs830701	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs830704	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs830705	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs830706	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs830707	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs830708	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs830709	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs830710	0.81[AMR][1000 genomes]
rs830724	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs830725	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs844224	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs844225	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs853869	0.92[AMR][1000 genomes]
rs853870	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs862692	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs865533	0.84[AMR][1000 genomes]
rs866180	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs905952	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs937965	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9934120	0.94[AMR][1000 genomes];0.84[EUR][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12231400-12268000	Weak transcription	Pancreas	Pancrea
2	chr16:12234600-12261600	Weak transcription	Aorta	Aorta
3	chr16:12234600-12265600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:12242200-12261600	Weak transcription	Lung	lung
5	chr16:12242200-12262800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr16:12242200-12299400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr16:12242400-12264600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr16:12242400-12280600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr16:12245600-12261800	Weak transcription	Fetal Thymus	thymus
10	chr16:12251800-12261600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr16:12251800-12264000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:12252000-12264200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:12253200-12264000	Weak transcription	Esophagus	oesophagus
14	chr16:12253400-12262200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr16:12253400-12264200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:12253400-12267800	Weak transcription	Brain Hippocampus Middle	brain
17	chr16:12253400-12268000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:12254000-12261600	Weak transcription	Adipose Nuclei	Adipose
19	chr16:12254000-12263600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:12254200-12268200	Weak transcription	Brain Anterior Caudate	brain
21	chr16:12254200-12272000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:12254200-12277600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:12254600-12263800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:12254800-12264000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:12255400-12262000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr16:12255400-12262000	Weak transcription	HSMM	muscle
27	chr16:12255800-12261600	Weak transcription	Spleen	Spleen
28	chr16:12256600-12262200	Weak transcription	Left Ventricle	heart
29	chr16:12256800-12261800	Weak transcription	HSMMtube	muscle
30	chr16:12256800-12262000	Weak transcription	Right Ventricle	heart
31	chr16:12256800-12263600	Weak transcription	Fetal Muscle Leg	muscle
32	chr16:12256800-12264000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:12256800-12264000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr16:12256800-12264400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:12256800-12264400	Weak transcription	NHLF	lung
36	chr16:12256800-12268000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr16:12256800-12268000	Weak transcription	Gastric	stomach
38	chr16:12257000-12262000	Weak transcription	Fetal Heart	heart
39	chr16:12257000-12264600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr16:12257000-12296800	Weak transcription	Thymus	Thymus
41	chr16:12257200-12264200	Weak transcription	Fetal Lung	lung
42	chr16:12257400-12261600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:12257400-12261800	Weak transcription	Placenta	Placenta
44	chr16:12257600-12261600	Weak transcription	Fetal Stomach	stomach
45	chr16:12257600-12262000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr16:12257800-12261600	Weak transcription	Fetal Brain Male	brain
47	chr16:12258600-12261600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr16:12259400-12261400	Weak transcription	Primary B cells from cord blood	blood
49	chr16:12259600-12261400	Strong transcription	GM12878-XiMat	blood
50	chr16:12259800-12264000	Weak transcription	Ovary	ovary

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