Variant report

Variant	rs9928921
Chromosome Location	chr16:12452194-12452195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11075063	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11859773	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11861545	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11866191	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12102413	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12102589	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12103039	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13336107	0.82[EUR][1000 genomes]
rs13338250	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs168831	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16959254	0.89[EUR][1000 genomes]
rs16959258	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17817646	0.86[EUR][1000 genomes]
rs2432631	0.88[ASN][1000 genomes]
rs2432632	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28469469	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28540294	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28561752	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28594525	0.95[ASN][1000 genomes]
rs28637093	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs31678	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs42672	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57739236	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58009694	0.82[EUR][1000 genomes]
rs60161095	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60467313	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60642545	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7195034	0.95[ASN][1000 genomes]
rs8053492	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8061507	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9922297	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9924462	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9929299	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9932979	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9944311	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9944312	0.82[EUR][1000 genomes];0.95[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	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	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1045385	chr16:12376389-12517006	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv542748	chr16:12376389-12517006	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
2	chr16:12410000-12456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:12410200-12464800	Weak transcription	Gastric	stomach
4	chr16:12428400-12461200	Weak transcription	Thymus	Thymus
5	chr16:12434600-12460200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:12435800-12454800	Weak transcription	Pancreas	Pancrea
7	chr16:12435800-12484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:12436000-12452400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:12436200-12456800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:12437400-12456600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr16:12437600-12456200	Weak transcription	Right Atrium	heart
12	chr16:12438800-12456400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:12439600-12452600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:12443200-12452400	Weak transcription	GM12878-XiMat	blood
15	chr16:12443200-12454200	Weak transcription	Fetal Muscle Leg	muscle
16	chr16:12443200-12456600	Weak transcription	Spleen	Spleen
17	chr16:12443200-12456800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:12443200-12456800	Weak transcription	Psoas Muscle	Psoas
19	chr16:12443200-12456800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr16:12443200-12457000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr16:12443400-12452400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr16:12443600-12470800	Weak transcription	HepG2	liver
23	chr16:12444000-12454800	Strong transcription	Primary T cells from cord blood	blood
24	chr16:12444800-12491400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr16:12447600-12452400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:12447600-12453000	Weak transcription	Lung	lung
27	chr16:12447600-12456200	Weak transcription	Left Ventricle	heart
28	chr16:12447600-12456400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr16:12447600-12456400	Weak transcription	Ovary	ovary
30	chr16:12447600-12470000	Weak transcription	Esophagus	oesophagus
31	chr16:12448400-12456600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:12448600-12452200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr16:12448600-12460400	Weak transcription	Fetal Stomach	stomach
34	chr16:12448600-12471200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr16:12448800-12456600	Weak transcription	HSMMtube	muscle
36	chr16:12449000-12454200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr16:12449000-12456600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:12449000-12457400	Weak transcription	Colon Smooth Muscle	Colon
39	chr16:12449400-12454200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr16:12449400-12456600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:12449600-12453400	Strong transcription	Primary B cells from cord blood	blood
42	chr16:12449600-12456000	Weak transcription	Fetal Heart	heart
43	chr16:12449800-12453200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr16:12449800-12453400	Strong transcription	Adipose Nuclei	Adipose
45	chr16:12449800-12463000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr16:12450000-12453000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr16:12450000-12454400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:12450000-12454800	Weak transcription	Fetal Intestine Small	intestine
49	chr16:12450400-12453200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr16:12450800-12452400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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