Variant report

Variant	rs58963806
Chromosome Location	chr16:12562593-12562594
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12559742..12563497-chr16:12565448..12569418,3	K562	blood:
2	chr16:12434163..12434889-chr16:12562200..12562981,2	MCF-7	breast:
3	chr16:12548961..12549762-chr16:12562338..12562923,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

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]
rs2080495	1.00[AMR][1000 genomes]
rs28628495	1.00[AMR][1000 genomes]
rs28718927	1.00[AMR][1000 genomes]
rs289671	1.00[AMR][1000 genomes]
rs31677	1.00[AMR][1000 genomes]
rs40994	1.00[AMR][1000 genomes]
rs56696659	1.00[AMR][1000 genomes]
rs57254313	1.00[AMR][1000 genomes]
rs58738016	1.00[AMR][1000 genomes]
rs61179416	1.00[AMR][1000 genomes]
rs7198589	1.00[AMR][1000 genomes]
rs7200680	1.00[AMR][1000 genomes]
rs73508538	1.00[AMR][1000 genomes]
rs73508563	1.00[AMR][1000 genomes]
rs73508577	1.00[AMR][1000 genomes]
rs9924180	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1036612	chr16:12518604-12565232	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12498400-12564600	Weak transcription	Esophagus	oesophagus
2	chr16:12528800-12564400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr16:12530400-12577600	Weak transcription	Pancreas	Pancrea
4	chr16:12545000-12594600	Weak transcription	Gastric	stomach
5	chr16:12545600-12564000	Weak transcription	Ovary	ovary
6	chr16:12547200-12564200	Weak transcription	Aorta	Aorta
7	chr16:12547400-12564800	Weak transcription	Right Atrium	heart
8	chr16:12552200-12562800	Weak transcription	Fetal Stomach	stomach
9	chr16:12553200-12591200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr16:12553400-12564200	Weak transcription	Lung	lung
11	chr16:12553600-12572600	Weak transcription	Thymus	Thymus
12	chr16:12554000-12562600	Weak transcription	Spleen	Spleen
13	chr16:12554200-12568600	Weak transcription	Primary B cells from cord blood	blood
14	chr16:12554200-12571000	Weak transcription	Primary T cells from cord blood	blood
15	chr16:12554600-12582400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr16:12554800-12585000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr16:12554800-12596000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr16:12555600-12590000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:12556600-12593200	Weak transcription	HSMMtube	muscle
20	chr16:12557000-12564000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:12557000-12564600	Weak transcription	Right Ventricle	heart
22	chr16:12557000-12566600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:12557200-12562600	Weak transcription	HUVEC	blood vessel
24	chr16:12557200-12564200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr16:12557200-12564200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr16:12557200-12564600	Weak transcription	Left Ventricle	heart
27	chr16:12557200-12572400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr16:12557200-12588000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:12561600-12563400	Enhancers	Primary B cells from peripheral blood	blood
30	chr16:12561800-12583400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr16:12562200-12564000	Enhancers	Stomach Smooth Muscle	stomach
32	chr16:12562400-12562600	Enhancers	Placenta	Placenta
33	chr16:12562400-12563000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr16:12562400-12563000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr16:12562400-12563000	Enhancers	Brain Anterior Caudate	brain
36	chr16:12562400-12563000	Enhancers	Brain Cingulate Gyrus	brain
37	chr16:12562400-12563000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr16:12562400-12563000	Enhancers	GM12878-XiMat	blood
39	chr16:12562400-12563200	Enhancers	Brain Hippocampus Middle	brain
40	chr16:12562400-12563400	Enhancers	Brain Substantia Nigra	brain

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