Variant report

Variant	rs350218
Chromosome Location	chr16:12149146-12149147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1616017	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1616090	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1641835	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1641838	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs168409	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs168411	0.80[ASN][1000 genomes]
rs1703492	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1703493	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1703494	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs171222	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2541583	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2541584	0.84[EUR][1000 genomes]
rs2662830	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs350214	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs350215	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs350216	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs350220	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs350221	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7192491	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8055073	0.81[AMR][1000 genomes];0.81[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:103 , 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	chr16:12121400-12155000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:12124400-12156600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:12124800-12155000	Weak transcription	NH-A	brain
5	chr16:12126400-12150000	Weak transcription	Small Intestine	intestine
6	chr16:12130000-12153000	Weak transcription	Ovary	ovary
7	chr16:12131200-12153000	Weak transcription	Right Atrium	heart
8	chr16:12131200-12156600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:12131400-12150800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:12131400-12150800	Weak transcription	HSMMtube	muscle
11	chr16:12131600-12154800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:12132000-12150200	Weak transcription	Osteobl	bone
13	chr16:12132800-12154600	Weak transcription	Hela-S3	cervix
14	chr16:12133000-12152800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr16:12133000-12153600	Weak transcription	Fetal Kidney	kidney
16	chr16:12133800-12156400	Weak transcription	Stomach Mucosa	stomach
17	chr16:12134200-12153000	Weak transcription	HepG2	liver
18	chr16:12136200-12151600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:12136400-12152600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr16:12138400-12149800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:12138400-12156800	Weak transcription	Colon Smooth Muscle	Colon
22	chr16:12138800-12151800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr16:12139200-12151400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr16:12139400-12172600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr16:12140000-12151200	Strong transcription	Fetal Stomach	stomach
26	chr16:12140200-12150400	Strong transcription	Adipose Nuclei	Adipose
27	chr16:12140800-12152800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr16:12140800-12154400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:12140800-12155000	Weak transcription	Fetal Intestine Small	intestine
30	chr16:12141200-12151800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr16:12141200-12153000	Weak transcription	Right Ventricle	heart
32	chr16:12142000-12153000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:12142600-12150800	Weak transcription	Esophagus	oesophagus
34	chr16:12142600-12155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr16:12142800-12150000	Weak transcription	Gastric	stomach
36	chr16:12142800-12150800	Weak transcription	Pancreas	Pancrea
37	chr16:12142800-12152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:12142800-12156400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr16:12142800-12159200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr16:12142800-12189200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr16:12143000-12151000	Weak transcription	Brain Anterior Caudate	brain
42	chr16:12143000-12154800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr16:12143000-12156400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr16:12143000-12156400	Weak transcription	NHLF	lung
45	chr16:12143200-12154800	Weak transcription	Brain Germinal Matrix	brain
46	chr16:12144200-12161600	Weak transcription	Dnd41	blood
47	chr16:12144200-12169400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr16:12144400-12152800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr16:12144400-12152800	Weak transcription	K562	blood
50	chr16:12144400-12153000	Weak transcription	Fetal Muscle Leg	muscle

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