Variant report

Variant	rs11020610
Chromosome Location	chr11:93681832-93681833
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	chr11:93680099..93683642-chr11:93684474..93688848,4	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10741479	0.85[ASN][1000 genomes]
rs10831104	1.00[YRI][hapmap]
rs10831150	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10831151	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020593	0.85[ASN][1000 genomes]
rs11020605	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11020606	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020607	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020608	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11020616	0.94[ASN][1000 genomes]
rs1105113	0.94[ASN][1000 genomes]
rs1105114	0.92[ASN][1000 genomes]
rs11603095	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12785240	0.91[ASN][1000 genomes]
rs12786407	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12786631	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12787903	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12789389	0.86[GIH][hapmap]
rs12789693	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792942	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12794588	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12807496	0.94[ASN][1000 genomes]
rs2399748	0.94[ASN][1000 genomes]
rs2895491	0.94[ASN][1000 genomes]
rs34082624	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34451374	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34537425	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34699227	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35579191	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35945951	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4753522	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4753523	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4753524	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55756119	0.95[ASN][1000 genomes]
rs60079517	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7484198	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7927632	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934440	0.94[ASN][1000 genomes]
rs7942055	0.95[ASN][1000 genomes]
rs877341	0.95[ASN][1000 genomes]
rs908746	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs908748	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508650	chr11:93609010-93713576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv1796911	chr11:93642877-93688134	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1049467	chr11:93651025-93778717	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv442	chr11:93665117-93717973	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1792094	chr11:93670388-93688541	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1800503	chr11:93670388-93688541	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1802331	chr11:93670388-93688541	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1802534	chr11:93670388-93688541	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1802586	chr11:93670388-93688541	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1802849	chr11:93670388-93688541	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1798558	chr11:93671838-93688514	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1796190	chr11:93676224-93688541	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1796455	chr11:93676224-93688541	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1799544	chr11:93676224-93688541	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1802919	chr11:93676224-93688541	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv2757466	chr11:93676224-93714950	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv2759854	chr11:93676224-93714950	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv2434183	chr11:93678878-93682441	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3486754	chr11:93678923-93682329	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11020610	PANX1	cis	parietal	SCAN
rs11020610	MTNR1B	cis	cerebellum	SCAN
rs11020610	C16orf11	trans	cerebellum	SCAN
rs11020610	GPR83	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93681400-93682400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:93681400-93682400	Enhancers	NHEK	skin
3	chr11:93681400-93683400	Enhancers	HMEC	breast
4	chr11:93681600-93682000	Enhancers	NH-A	brain
5	chr11:93681600-93682000	Enhancers	NHDF-Ad	bronchial
6	chr11:93681600-93682200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:93681600-93682200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr11:93681600-93682200	Bivalent Enhancer	Osteobl	bone
9	chr11:93681600-93682400	Enhancers	HSMM	muscle
10	chr11:93681600-93683000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:93681600-93683200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:93681800-93682000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:93681800-93682200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:93681800-93682400	Enhancers	HSMMtube	muscle
15	chr11:93681800-93683000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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