Variant report

Variant	rs171222
Chromosome Location	chr16:12147380-12147381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1616017	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1616090	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1641835	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1641838	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs168409	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs168411	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1703492	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1703493	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1703494	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2541583	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2541584	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2662830	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs350214	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs350215	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs350216	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs350218	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs350220	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs350221	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs350222	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7192491	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8055073	0.85[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	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	nsv977905	chr16:12146787-12159206	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12117400-12183400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr16:12119600-12148400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:12121400-12155000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:12124400-12156600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:12124800-12155000	Weak transcription	NH-A	brain
6	chr16:12126400-12150000	Weak transcription	Small Intestine	intestine
7	chr16:12130000-12153000	Weak transcription	Ovary	ovary
8	chr16:12131200-12153000	Weak transcription	Right Atrium	heart
9	chr16:12131200-12156600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:12131400-12148200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr16:12131400-12150800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr16:12131400-12150800	Weak transcription	HSMMtube	muscle
13	chr16:12131600-12154800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:12132000-12150200	Weak transcription	Osteobl	bone
15	chr16:12132800-12154600	Weak transcription	Hela-S3	cervix
16	chr16:12133000-12147400	Weak transcription	NHDF-Ad	bronchial
17	chr16:12133000-12148200	Weak transcription	Fetal Brain Female	brain
18	chr16:12133000-12152800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:12133000-12153600	Weak transcription	Fetal Kidney	kidney
20	chr16:12133800-12156400	Weak transcription	Stomach Mucosa	stomach
21	chr16:12134200-12153000	Weak transcription	HepG2	liver
22	chr16:12136200-12151600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:12136400-12152600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr16:12138400-12149800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:12138400-12156800	Weak transcription	Colon Smooth Muscle	Colon
26	chr16:12138800-12151800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr16:12139200-12151400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr16:12139400-12172600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:12140000-12151200	Strong transcription	Fetal Stomach	stomach
30	chr16:12140200-12150400	Strong transcription	Adipose Nuclei	Adipose
31	chr16:12140400-12148800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:12140800-12152800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr16:12140800-12154400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr16:12140800-12155000	Weak transcription	Fetal Intestine Small	intestine
35	chr16:12141200-12151800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr16:12141200-12153000	Weak transcription	Right Ventricle	heart
37	chr16:12142000-12153000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:12142600-12148400	Weak transcription	Aorta	Aorta
39	chr16:12142600-12150800	Weak transcription	Esophagus	oesophagus
40	chr16:12142600-12155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr16:12142800-12148200	Weak transcription	Brain Hippocampus Middle	brain
42	chr16:12142800-12148200	Weak transcription	Brain Substantia Nigra	brain
43	chr16:12142800-12150000	Weak transcription	Gastric	stomach
44	chr16:12142800-12150800	Weak transcription	Pancreas	Pancrea
45	chr16:12142800-12152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:12142800-12156400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr16:12142800-12159200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr16:12142800-12189200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr16:12143000-12148000	Weak transcription	Left Ventricle	heart
50	chr16:12143000-12148200	Weak transcription	Brain Angular Gyrus	brain

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