Variant report

Variant	rs830701
Chromosome Location	chr16:12255499-12255500
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	chr16:12253223..12255934-chr16:12258590..12260441,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11642667	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1701111	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs1704094	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1704130	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2456272	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2968353	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs709418	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs709419	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs709420	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs709421	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs709422	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8062913	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs830696	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs830698	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs830700	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs830704	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs830705	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs830706	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs830707	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs830708	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs830709	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs830710	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs830724	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs830725	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs844224	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844225	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs853869	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs853870	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs862692	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs865533	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs866180	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs905952	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs937965	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934120	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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	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	nsv1042146	chr16:12208242-12256699	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12230200-12256200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr16:12231400-12268000	Weak transcription	Pancreas	Pancrea
3	chr16:12234600-12261600	Weak transcription	Aorta	Aorta
4	chr16:12234600-12265600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr16:12242200-12261600	Weak transcription	Lung	lung
6	chr16:12242200-12262800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr16:12242200-12299400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr16:12242400-12255800	Weak transcription	Thymus	Thymus
9	chr16:12242400-12256400	Weak transcription	Fetal Kidney	kidney
10	chr16:12242400-12264600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr16:12242400-12280600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:12244400-12255800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr16:12244800-12261200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr16:12245600-12257200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr16:12245600-12261800	Weak transcription	Fetal Thymus	thymus
16	chr16:12247400-12259400	Strong transcription	Primary B cells from cord blood	blood
17	chr16:12248000-12258400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr16:12248800-12257800	Strong transcription	Primary T cells from cord blood	blood
19	chr16:12249600-12256400	Weak transcription	HepG2	liver
20	chr16:12250000-12257000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:12250000-12260800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr16:12251000-12260800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr16:12251800-12261600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:12251800-12264000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:12252000-12255800	Weak transcription	NHLF	lung
26	chr16:12252000-12264200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:12252200-12256400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr16:12252400-12256600	Enhancers	Left Ventricle	heart
29	chr16:12252800-12256600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr16:12253000-12256000	Weak transcription	Liver	Liver
31	chr16:12253200-12264000	Weak transcription	Esophagus	oesophagus
32	chr16:12253400-12255800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr16:12253400-12256200	Weak transcription	Brain Substantia Nigra	brain
34	chr16:12253400-12262200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr16:12253400-12264200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:12253400-12267800	Weak transcription	Brain Hippocampus Middle	brain
37	chr16:12253400-12268000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr16:12253600-12257400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:12253600-12259800	Enhancers	Ovary	ovary
40	chr16:12253600-12260800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr16:12253800-12255800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr16:12253800-12257800	Enhancers	Fetal Brain Male	brain
43	chr16:12254000-12255800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:12254000-12261600	Weak transcription	Adipose Nuclei	Adipose
45	chr16:12254000-12263600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr16:12254200-12256000	Weak transcription	Fetal Muscle Leg	muscle
47	chr16:12254200-12256400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr16:12254200-12256400	Weak transcription	Brain Angular Gyrus	brain
49	chr16:12254200-12268200	Weak transcription	Brain Anterior Caudate	brain
50	chr16:12254200-12272000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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