Variant report

Variant	rs8046812
Chromosome Location	chr16:82795213-82795214
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1016713	0.95[CEU][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs2325687	0.86[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8056064	0.84[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1059718	chr16:82564054-82810003	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
7	esv2751616	chr16:82714696-82852296	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1067216	chr16:82719694-82821762	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
9	nsv543000	chr16:82719694-82821762	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
10	nsv907026	chr16:82765607-82812853	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1066132	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv543001	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1055547	chr16:82784440-82801892	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv2761928	chr16:82784440-82806653	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv573381	chr16:82784943-82805384	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8046812	TAF1C	cis	parietal	SCAN
rs8046812	ATMIN	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82790200-82810400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:82793000-82815200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:82793800-82795600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:82793800-82795600	Enhancers	NHEK	skin
5	chr16:82793800-82795800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:82793800-82796400	Enhancers	Fetal Heart	heart
7	chr16:82794200-82795600	Enhancers	Brain Hippocampus Middle	brain
8	chr16:82794200-82796400	Enhancers	Psoas Muscle	Psoas
9	chr16:82794200-82796400	Enhancers	Right Ventricle	heart
10	chr16:82794200-82796400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr16:82794200-82796400	Enhancers	HSMM	muscle
12	chr16:82794400-82795400	Enhancers	NH-A	brain
13	chr16:82794400-82795600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:82794400-82795600	Weak transcription	Pancreas	Pancrea
15	chr16:82794400-82795800	Enhancers	Fetal Muscle Leg	muscle
16	chr16:82794400-82796600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr16:82794400-82796600	Enhancers	Primary B cells from peripheral blood	blood
18	chr16:82794600-82795400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:82794800-82795400	Enhancers	Liver	Liver
20	chr16:82794800-82795800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:82794800-82795800	Enhancers	NHDF-Ad	bronchial
22	chr16:82794800-82796200	Enhancers	Brain Angular Gyrus	brain
23	chr16:82795000-82795400	Enhancers	Adipose Nuclei	Adipose
24	chr16:82795000-82795400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr16:82795000-82795400	Enhancers	NHLF	lung
26	chr16:82795000-82795600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:82795000-82795600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr16:82795000-82795600	Flanking Active TSS	HSMMtube	muscle
29	chr16:82795000-82795800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr16:82795000-82796000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:82795000-82796000	Flanking Active TSS	HUVEC	blood vessel
32	chr16:82795000-82796200	Enhancers	Brain Cingulate Gyrus	brain
33	chr16:82795000-82796200	Enhancers	Brain Substantia Nigra	brain
34	chr16:82795000-82796400	Enhancers	Rectal Smooth Muscle	rectum
35	chr16:82795000-82796400	Enhancers	Right Atrium	heart
36	chr16:82795000-82801200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:82795000-82801200	Weak transcription	Left Ventricle	heart
38	chr16:82795000-82806000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:82795200-82795400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:82795200-82795400	Enhancers	Duodenum Mucosa	Duodenum
41	chr16:82795200-82795600	Active TSS	Aorta	Aorta
42	chr16:82795200-82795600	Enhancers	Osteobl	bone
43	chr16:82795200-82795800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr16:82795200-82795800	Flanking Active TSS	HMEC	breast
45	chr16:82795200-82796000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:82795200-82796000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr16:82795200-82796200	Enhancers	Fetal Intestine Small	intestine

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