Variant report

Variant	rs1704107
Chromosome Location	chr16:12223854-12223855
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs168412	0.97[ASN][1000 genomes]
rs1703485	1.00[ASN][1000 genomes]
rs1703515	0.97[ASN][1000 genomes]
rs1704117	0.90[ASN][1000 genomes]
rs181153	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs183009	0.90[ASN][1000 genomes]
rs350204	1.00[ASN][1000 genomes]
rs350224	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs350267	0.97[ASN][1000 genomes]
rs350268	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs350273	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350288	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59875018	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8060517	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv571460	chr16:12181702-12238602	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv528952	chr16:12222064-12234877	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12184400-12231200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:12198200-12227800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr16:12208200-12228000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:12208600-12226800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:12211000-12224400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr16:12211000-12227800	Weak transcription	Fetal Intestine Small	intestine
7	chr16:12211200-12224400	Weak transcription	Pancreas	Pancrea
8	chr16:12211200-12226200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:12213200-12232600	Weak transcription	Colonic Mucosa	Colon
10	chr16:12213800-12226600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr16:12213800-12228200	Weak transcription	Lung	lung
12	chr16:12213800-12228400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:12213800-12231400	Weak transcription	Small Intestine	intestine
14	chr16:12213800-12255400	Weak transcription	Gastric	stomach
15	chr16:12214000-12226400	Weak transcription	HSMM	muscle
16	chr16:12214000-12228000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr16:12214400-12224600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr16:12214600-12224200	Weak transcription	Brain Angular Gyrus	brain
19	chr16:12215000-12226800	Weak transcription	Ovary	ovary
20	chr16:12215000-12227600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr16:12215000-12227800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr16:12215000-12228200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:12215000-12233200	Weak transcription	Fetal Lung	lung
24	chr16:12215200-12229200	Weak transcription	NHDF-Ad	bronchial
25	chr16:12215400-12228000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr16:12215400-12228200	Weak transcription	Left Ventricle	heart
27	chr16:12215400-12231000	Weak transcription	HepG2	liver
28	chr16:12215400-12241600	Weak transcription	NH-A	brain
29	chr16:12215600-12226400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:12215600-12226600	Weak transcription	NHLF	lung
31	chr16:12215600-12228000	Weak transcription	Fetal Muscle Leg	muscle
32	chr16:12215600-12228200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:12215600-12228200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:12215600-12234000	Weak transcription	Right Ventricle	heart
35	chr16:12215600-12234400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:12217800-12241800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:12218600-12228000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr16:12218600-12241200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr16:12218800-12241000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr16:12219000-12226200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr16:12219200-12225800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr16:12219200-12228400	Weak transcription	Fetal Kidney	kidney
43	chr16:12219400-12226400	Weak transcription	Colon Smooth Muscle	Colon
44	chr16:12219400-12228200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr16:12219400-12237600	Weak transcription	Fetal Intestine Large	intestine
46	chr16:12219600-12227600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:12219600-12227800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr16:12219600-12231800	Weak transcription	Liver	Liver
49	chr16:12219800-12227400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr16:12219800-12228200	Weak transcription	Esophagus	oesophagus

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