Variant report

Variant	rs8051768
Chromosome Location	chr16:12208242-12208243
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	chr16:12207504..12209871-chr16:12211621..12214983,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11075050	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11075051	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11075052	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11640920	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11641707	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11643720	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11647573	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12596036	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12596081	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12596229	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12597440	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12597662	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16958983	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350244	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs4074264	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs55693041	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55906538	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55925548	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55937851	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55975708	0.91[AMR][1000 genomes]
rs56058313	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56225320	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57288594	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58198539	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59506769	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59855210	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6498266	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7189640	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7190611	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73519857	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8053242	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][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	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	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
3	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv977111	chr16:12161129-12220593	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1039492	chr16:12176517-12210702	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv571460	chr16:12181702-12238602	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1052973	chr16:12188092-12307880	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1042146	chr16:12208242-12256699	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8051768	PLA2G10	cis	parietal	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12184400-12231200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:12186800-12213400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:12189800-12209600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:12189800-12220400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr16:12190000-12220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:12190000-12220400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr16:12190200-12210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:12190800-12210600	Weak transcription	Pancreas	Pancrea
9	chr16:12191200-12223200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr16:12191400-12213600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr16:12192000-12213800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:12192000-12214600	Weak transcription	Right Atrium	heart
13	chr16:12192400-12210400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:12192400-12213200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:12192400-12213200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr16:12192800-12213600	Weak transcription	Adipose Nuclei	Adipose
17	chr16:12194000-12212600	Weak transcription	Ovary	ovary
18	chr16:12194000-12213000	Weak transcription	Right Ventricle	heart
19	chr16:12194000-12215200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:12194200-12210600	Weak transcription	NHEK	skin
21	chr16:12198200-12227800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr16:12200200-12220200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr16:12200400-12209200	Weak transcription	Gastric	stomach
24	chr16:12200400-12210600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:12200400-12210600	Weak transcription	Aorta	Aorta
26	chr16:12200600-12210400	Weak transcription	Lung	lung
27	chr16:12200600-12213000	Weak transcription	Fetal Heart	heart
28	chr16:12200600-12215400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:12201000-12209200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:12201000-12210400	Weak transcription	Thymus	Thymus
31	chr16:12202000-12209400	Weak transcription	GM12878-XiMat	blood
32	chr16:12204600-12208400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr16:12204800-12208400	Enhancers	Primary hematopoietic stem cells	blood
34	chr16:12204800-12222000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr16:12205000-12208400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:12205000-12208400	Enhancers	Brain Anterior Caudate	brain
37	chr16:12205400-12210600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:12205400-12210600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr16:12205400-12213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:12205800-12213600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr16:12206000-12210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:12206200-12208800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr16:12206400-12210200	Weak transcription	Fetal Stomach	stomach
44	chr16:12206800-12208400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr16:12206800-12208400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr16:12206800-12208400	Enhancers	Fetal Brain Female	brain
47	chr16:12206800-12212600	Weak transcription	HepG2	liver
48	chr16:12207000-12208400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr16:12207000-12208400	Enhancers	Brain Cingulate Gyrus	brain
50	chr16:12207200-12208400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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