Variant report

Variant	rs1344279
Chromosome Location	chr3:121615679-121615680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10934565	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12488334	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12488851	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12491991	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12493408	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12493952	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12496318	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs12497349	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12498028	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12629742	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12630486	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12632345	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12634032	0.93[CEU][hapmap]
rs12637351	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12637968	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12638492	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13067270	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13083557	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13089878	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1574133	0.93[CEU][hapmap]
rs1920290	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1920291	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1920297	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1920298	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1920299	0.93[CEU][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1920309	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1986368	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1986712	0.84[AMR][1000 genomes]
rs2091664	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2141487	0.93[CEU][hapmap]
rs2332033	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2689285	0.93[CEU][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2689290	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2877560	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34158925	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34181646	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34478505	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34543553	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34566912	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34696871	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34837785	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35101693	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35415993	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35737776	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35902163	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3732407	0.93[CEU][hapmap]
rs3732410	0.93[CEU][hapmap]
rs3942629	0.80[EUR][1000 genomes]
rs4118376	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4285028	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4305455	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4676758	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6771068	0.93[CEU][hapmap]
rs6790281	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71329246	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71329247	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73855465	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73855476	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73855480	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73855481	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7615571	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7623901	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs7637495	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7640872	0.81[AMR][1000 genomes]
rs7651226	0.86[AMR][1000 genomes];0.82[EUR][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	nsv432480	chr3:121355723-121629928	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432482	chr3:121364236-121629634	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv432481	chr3:121364236-121637178	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv516233	chr3:121419301-121670405	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv877383	chr3:121465220-121650736	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv432483	chr3:121488995-121629634	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	esv33139	chr3:121500400-122091831	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv877384	chr3:121601577-121659774	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1344279	IQCB1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121592800-121646800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:121593000-121632400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr3:121610600-121621800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr3:121612400-121616000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:121613000-121616600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:121613000-121616800	Strong transcription	GM12878-XiMat	blood
7	chr3:121613000-121620600	Strong transcription	Primary B cells from cord blood	blood
8	chr3:121613000-121621800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr3:121613000-121622000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr3:121613200-121619400	Strong transcription	Primary hematopoietic stem cells	blood
11	chr3:121613400-121622000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:121613400-121626400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:121613600-121617400	Weak transcription	Aorta	Aorta
14	chr3:121613800-121647200	Weak transcription	Left Ventricle	heart
15	chr3:121614000-121617200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:121614000-121632800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:121614000-121633200	Weak transcription	Fetal Kidney	kidney
18	chr3:121614000-121637800	Weak transcription	Spleen	Spleen
19	chr3:121614200-121617400	Weak transcription	Brain Substantia Nigra	brain
20	chr3:121614200-121631600	Weak transcription	Brain Anterior Caudate	brain
21	chr3:121614200-121634400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:121614800-121616400	Enhancers	Placenta	Placenta
23	chr3:121614800-121617600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr3:121615000-121615800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:121615000-121616200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:121615000-121616400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:121615000-121626600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr3:121615000-121632000	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:121615200-121618200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr3:121615200-121626800	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:121615400-121615800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr3:121615400-121615800	Enhancers	Pancreas	Pancrea
33	chr3:121615400-121616200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:121615400-121616200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:121615400-121616400	Enhancers	Fetal Intestine Large	intestine
36	chr3:121615400-121617600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:121615600-121616200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:121615600-121616200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:121615600-121616400	Strong transcription	Primary T cells from cord blood	blood
40	chr3:121615600-121621000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:121615600-121633200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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