Variant report

Variant	rs28637093
Chromosome Location	chr16:12436676-12436677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12433483..12435044-chr16:12435490..12437605,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10518185	0.88[EUR][1000 genomes]
rs11075063	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11859773	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11861545	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11866191	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102413	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102589	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12103039	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13336107	0.92[EUR][1000 genomes]
rs13338250	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168831	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16959254	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16959258	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17817646	0.96[EUR][1000 genomes]
rs2432631	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2432632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28469469	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28540294	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28561752	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594525	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs31677	0.81[AFR][1000 genomes]
rs31678	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35413938	0.88[EUR][1000 genomes]
rs42672	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57739236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58009694	0.85[EUR][1000 genomes]
rs60161095	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60467313	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60642545	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7195034	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8053492	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8061507	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9922297	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9924462	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9928921	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9929299	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9932979	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9944311	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9944312	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv905349	chr16:12408750-12445863	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv571464	chr16:12423557-12449778	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
2	chr16:12405600-12442400	Weak transcription	Spleen	Spleen
3	chr16:12410000-12456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:12410200-12464800	Weak transcription	Gastric	stomach
5	chr16:12416800-12438600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr16:12418400-12438400	Weak transcription	Brain Anterior Caudate	brain
7	chr16:12425200-12442200	Weak transcription	Psoas Muscle	Psoas
8	chr16:12425400-12442000	Weak transcription	GM12878-XiMat	blood
9	chr16:12426800-12447200	Weak transcription	Lung	lung
10	chr16:12428400-12442400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr16:12428400-12461200	Weak transcription	Thymus	Thymus
12	chr16:12432400-12436800	Weak transcription	Fetal Heart	heart
13	chr16:12432400-12437200	Weak transcription	Primary B cells from cord blood	blood
14	chr16:12432600-12438600	Weak transcription	Adipose Nuclei	Adipose
15	chr16:12433000-12437200	Weak transcription	Fetal Brain Male	brain
16	chr16:12433800-12438200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr16:12433800-12438800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr16:12434200-12438200	Weak transcription	Brain Substantia Nigra	brain
19	chr16:12434400-12439200	Weak transcription	Brain Hippocampus Middle	brain
20	chr16:12434400-12450600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr16:12434600-12438200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:12434600-12460200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:12435000-12441800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr16:12435200-12437600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr16:12435400-12439200	Strong transcription	Primary T cells from cord blood	blood
26	chr16:12435600-12437600	Enhancers	Left Ventricle	heart
27	chr16:12435600-12442200	Weak transcription	Ovary	ovary
28	chr16:12435800-12437200	Weak transcription	Right Atrium	heart
29	chr16:12435800-12442400	Weak transcription	Esophagus	oesophagus
30	chr16:12435800-12454800	Weak transcription	Pancreas	Pancrea
31	chr16:12435800-12484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:12436000-12437000	Weak transcription	Fetal Muscle Leg	muscle
33	chr16:12436000-12438800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:12436000-12450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:12436000-12452400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:12436200-12450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:12436200-12456800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:12436600-12436800	Enhancers	Rectal Smooth Muscle	rectum
39	chr16:12436600-12436800	Enhancers	Stomach Smooth Muscle	stomach
40	chr16:12436600-12437200	Enhancers	Colon Smooth Muscle	Colon
41	chr16:12436600-12437400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr16:12436600-12437400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:12436600-12437400	Enhancers	Fetal Muscle Trunk	muscle
44	chr16:12436600-12438600	Weak transcription	Right Ventricle	heart
45	chr16:12436600-12442200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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