Variant report

Variant	rs3803183
Chromosome Location	chr12:48398080-48398081
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48392370..48394722-chr12:48397446..48401400,3	K562	blood:
2	chr12:48392370..48394865-chr12:48396464..48400282,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP1-228P16.5.1-1	chr12:48398020-48398145	NONHSAT027970

Variant related genes	Relation type
ENSG00000139219	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1018973	0.88[EUR][1000 genomes]
rs1034762	0.80[EUR][1000 genomes]
rs10783226	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783227	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11612578	0.92[EUR][1000 genomes]
rs11612970	0.81[EUR][1000 genomes]
rs11613485	0.80[EUR][1000 genomes]
rs12580764	0.82[EUR][1000 genomes]
rs1635526	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1635528	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1635529	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1635534	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1635535	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17122611	0.82[EUR][1000 genomes]
rs17122612	0.82[EUR][1000 genomes]
rs17122613	0.81[EUR][1000 genomes]
rs1793912	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1793913	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1793915	0.81[AMR][1000 genomes]
rs1793917	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1793931	0.82[CHB][hapmap];0.83[JPT][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1793933	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1793955	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1793956	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1859441	0.90[EUR][1000 genomes]
rs1859444	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1990029	0.94[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2286022	0.85[EUR][1000 genomes]
rs3742074	0.82[EUR][1000 genomes]
rs3803182	0.83[AMR][1000 genomes]
rs3803184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825404	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4293182	0.80[EUR][1000 genomes]
rs4760611	0.87[EUR][1000 genomes]
rs4760614	0.88[EUR][1000 genomes]
rs4760615	0.89[EUR][1000 genomes]
rs4760618	0.89[EUR][1000 genomes]
rs4760677	0.88[EUR][1000 genomes]
rs57380031	0.81[EUR][1000 genomes]
rs59766465	0.81[EUR][1000 genomes]
rs60629297	0.81[EUR][1000 genomes]
rs60681522	0.82[EUR][1000 genomes]
rs6580647	0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6580649	0.90[EUR][1000 genomes]
rs6580651	0.88[EUR][1000 genomes]
rs7132668	0.92[EUR][1000 genomes]
rs7133249	0.82[EUR][1000 genomes]
rs72644841	0.92[EUR][1000 genomes]
rs72644842	0.88[EUR][1000 genomes]
rs72644843	0.82[EUR][1000 genomes]
rs72644844	0.82[EUR][1000 genomes]
rs7305954	0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7310579	0.89[EUR][1000 genomes]
rs7957764	0.89[EUR][1000 genomes]
rs7959755	0.88[EUR][1000 genomes]
rs7967762	0.87[EUR][1000 genomes]
rs7971668	0.82[EUR][1000 genomes]
rs917055	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9651993	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9805048	0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3803183	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48394800-48398600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
2	chr12:48394800-48398800	Bivalent Enhancer	Liver	Liver
3	chr12:48394800-48399200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:48395000-48398800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
5	chr12:48395000-48399200	Bivalent Enhancer	Fetal Thymus	thymus
6	chr12:48395200-48398200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
7	chr12:48395200-48398600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
8	chr12:48395200-48398800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:48395400-48398600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
10	chr12:48395400-48398800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:48395600-48398400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:48395600-48399000	Enhancers	Pancreas	Pancrea
13	chr12:48395800-48398400	Enhancers	Lung	lung
14	chr12:48395800-48399200	Bivalent/Poised TSS	Fetal Kidney	kidney
15	chr12:48396200-48398800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:48396400-48398400	Bivalent Enhancer	NHLF	lung
17	chr12:48396400-48398600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:48396800-48398200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:48396800-48398200	Bivalent Enhancer	HUVEC	blood vessel
20	chr12:48397000-48399200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:48397200-48398200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
22	chr12:48397200-48398400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
23	chr12:48397200-48398800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:48397200-48399000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:48397200-48399200	Bivalent Enhancer	Fetal Brain Male	brain
26	chr12:48397400-48398200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr12:48397400-48398200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
28	chr12:48397400-48398200	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:48397400-48398200	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
30	chr12:48397400-48398200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:48397400-48398200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
32	chr12:48397400-48398200	Flanking Bivalent TSS/Enh	NHEK	skin
33	chr12:48397400-48398400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr12:48397400-48398400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:48397400-48398400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
36	chr12:48397400-48398400	Flanking Bivalent TSS/Enh	A549	lung
37	chr12:48397400-48398600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr12:48397400-48398600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:48397400-48398600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr12:48397400-48398800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
41	chr12:48397400-48398800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:48397400-48398800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
43	chr12:48397400-48398800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr12:48397400-48399200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
45	chr12:48397400-48399400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:48397600-48398200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
47	chr12:48397600-48398200	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
48	chr12:48397600-48398200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
49	chr12:48397600-48398200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
50	chr12:48397600-48398200	Flanking Bivalent TSS/Enh	NH-A	brain

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