Variant report

Variant	rs9933058
Chromosome Location	chr16:12450258-12450259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1032887	0.87[ASN][1000 genomes]
rs10500380	0.87[ASN][1000 genomes]
rs11863659	0.82[ASN][1000 genomes]
rs12103021	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13331380	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13332083	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13332306	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16959097	0.87[ASN][1000 genomes]
rs16959100	0.87[ASN][1000 genomes]
rs16959126	0.87[ASN][1000 genomes]
rs16959130	0.87[ASN][1000 genomes]
rs16959197	0.83[ASN][1000 genomes]
rs16959253	1.00[ASN][1000 genomes]
rs16959350	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28368750	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28372578	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28405384	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28462125	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28472378	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496413	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28605678	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55916220	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56666563	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56836971	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57011047	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58031076	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58393449	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60011426	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60280624	0.87[ASN][1000 genomes]
rs60663572	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61159108	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73508005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74008988	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74008989	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74009002	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs746311	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746312	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8058627	0.87[ASN][1000 genomes]
rs870641	0.87[ASN][1000 genomes]
rs905948	0.87[ASN][1000 genomes]
rs9922894	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926796	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9927344	0.87[ASN][1000 genomes]
rs9929445	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9932158	0.96[AMR][1000 genomes];1.00[EUR][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:68 , 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	chr16:12434400-12450600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr16:12434600-12460200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:12435800-12454800	Weak transcription	Pancreas	Pancrea
8	chr16:12435800-12484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:12436000-12452400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:12436200-12456800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:12437400-12456600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:12437600-12456200	Weak transcription	Right Atrium	heart
13	chr16:12438800-12456400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:12439600-12452600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:12442600-12450600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr16:12443000-12450800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:12443200-12452400	Weak transcription	GM12878-XiMat	blood
18	chr16:12443200-12454200	Weak transcription	Fetal Muscle Leg	muscle
19	chr16:12443200-12456600	Weak transcription	Spleen	Spleen
20	chr16:12443200-12456800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:12443200-12456800	Weak transcription	Psoas Muscle	Psoas
22	chr16:12443200-12456800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr16:12443200-12457000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr16:12443400-12452400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr16:12443600-12470800	Weak transcription	HepG2	liver
26	chr16:12444000-12454800	Strong transcription	Primary T cells from cord blood	blood
27	chr16:12444800-12491400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr16:12447000-12452000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr16:12447400-12451000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr16:12447600-12452000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:12447600-12452400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:12447600-12453000	Weak transcription	Lung	lung
33	chr16:12447600-12456200	Weak transcription	Left Ventricle	heart
34	chr16:12447600-12456400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr16:12447600-12456400	Weak transcription	Ovary	ovary
36	chr16:12447600-12470000	Weak transcription	Esophagus	oesophagus
37	chr16:12447800-12452000	Enhancers	Brain Substantia Nigra	brain
38	chr16:12448000-12451000	Enhancers	Brain Anterior Caudate	brain
39	chr16:12448000-12452000	Enhancers	Primary hematopoietic stem cells	blood
40	chr16:12448200-12450800	Enhancers	Brain Angular Gyrus	brain
41	chr16:12448400-12456600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:12448600-12452200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr16:12448600-12460400	Weak transcription	Fetal Stomach	stomach
44	chr16:12448600-12471200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr16:12448800-12452000	Weak transcription	NHEK	skin
46	chr16:12448800-12456600	Weak transcription	HSMMtube	muscle
47	chr16:12449000-12454200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr16:12449000-12456600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr16:12449000-12457400	Weak transcription	Colon Smooth Muscle	Colon
50	chr16:12449400-12451600	Weak transcription	Brain Cingulate Gyrus	brain

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