Variant report

Variant	rs289671
Chromosome Location	chr16:12431835-12431836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12102559	1.00[AMR][1000 genomes]
rs12103066	1.00[AMR][1000 genomes]
rs13339143	1.00[AMR][1000 genomes]
rs13339535	1.00[AMR][1000 genomes]
rs158469	1.00[AMR][1000 genomes]
rs158471	1.00[AMR][1000 genomes]
rs158472	1.00[AMR][1000 genomes]
rs158476	1.00[AMR][1000 genomes]
rs168831	0.80[AFR][1000 genomes]
rs16959254	0.84[AFR][1000 genomes]
rs2080495	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs209838	1.00[AMR][1000 genomes]
rs2856769	1.00[AMR][1000 genomes]
rs28628495	1.00[AMR][1000 genomes]
rs28718927	1.00[AMR][1000 genomes]
rs31677	1.00[AMR][1000 genomes]
rs40994	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56696659	1.00[AMR][1000 genomes]
rs57924692	1.00[AMR][1000 genomes]
rs58963806	1.00[AMR][1000 genomes]
rs59930096	1.00[AMR][1000 genomes]
rs7198589	1.00[AMR][1000 genomes]
rs7200680	1.00[AMR][1000 genomes]
rs9924180	1.00[AMR][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:49 , 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	chr16:12414800-12432000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:12415400-12435400	Weak transcription	Pancreas	Pancrea
7	chr16:12416800-12438600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr16:12418400-12433400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:12418400-12433400	Weak transcription	Brain Substantia Nigra	brain
10	chr16:12418400-12438400	Weak transcription	Brain Anterior Caudate	brain
11	chr16:12422000-12432200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:12423800-12433600	Weak transcription	HSMMtube	muscle
13	chr16:12425000-12435400	Weak transcription	Right Atrium	heart
14	chr16:12425200-12433600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr16:12425200-12433600	Weak transcription	Ovary	ovary
16	chr16:12425200-12442200	Weak transcription	Psoas Muscle	Psoas
17	chr16:12425400-12432000	Weak transcription	Adipose Nuclei	Adipose
18	chr16:12425400-12433200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:12425400-12433400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:12425400-12442000	Weak transcription	GM12878-XiMat	blood
21	chr16:12425600-12432400	Strong transcription	Primary B cells from cord blood	blood
22	chr16:12426800-12433800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr16:12426800-12434800	Weak transcription	Fetal Muscle Leg	muscle
24	chr16:12426800-12447200	Weak transcription	Lung	lung
25	chr16:12427200-12432400	Enhancers	Fetal Heart	heart
26	chr16:12428200-12435400	Weak transcription	Primary T cells from cord blood	blood
27	chr16:12428400-12442400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr16:12428400-12461200	Weak transcription	Thymus	Thymus
29	chr16:12428800-12432200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr16:12428800-12432400	Enhancers	Left Ventricle	heart
31	chr16:12429000-12433600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr16:12429200-12434000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr16:12430000-12435400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr16:12430400-12433600	Weak transcription	Colon Smooth Muscle	Colon
35	chr16:12430400-12436600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr16:12430600-12435200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr16:12430800-12432200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr16:12430800-12432400	Enhancers	Right Ventricle	heart
39	chr16:12431000-12432400	Weak transcription	Fetal Brain Male	brain
40	chr16:12431000-12433600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr16:12431400-12432000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:12431400-12432000	Enhancers	NH-A	brain
43	chr16:12431600-12432000	Enhancers	NHEK	skin
44	chr16:12431600-12432400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:12431600-12432400	Enhancers	HUVEC	blood vessel
46	chr16:12431800-12432000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:12431800-12432200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:12431800-12432400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:12431800-12432600	Enhancers	Osteobl	bone

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