Variant report

Variant	rs11682752
Chromosome Location	chr2:186626289-186626290
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10174315	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10180772	0.83[EUR][1000 genomes]
rs10186909	0.84[EUR][1000 genomes]
rs10189129	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10190576	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10490389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1075257	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11675259	0.86[EUR][1000 genomes]
rs11677177	0.82[EUR][1000 genomes]
rs11684181	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686377	0.85[EUR][1000 genomes]
rs11686533	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11891430	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11891748	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11904219	0.94[ASN][1000 genomes]
rs12328996	0.83[EUR][1000 genomes]
rs13410805	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13421326	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13421575	0.83[EUR][1000 genomes]
rs17813140	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17815052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28508191	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35119381	0.85[EUR][1000 genomes]
rs35379699	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35939893	0.94[ASN][1000 genomes]
rs4292063	0.83[EUR][1000 genomes]
rs56266442	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59153366	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6713671	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6716541	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6731973	0.83[EUR][1000 genomes]
rs6749407	0.85[EUR][1000 genomes]
rs6752510	0.94[ASN][1000 genomes]
rs6753178	0.85[EUR][1000 genomes]
rs6755533	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6760722	0.83[EUR][1000 genomes]
rs6761099	0.83[EUR][1000 genomes]
rs72894199	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72896010	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72901998	0.83[EUR][1000 genomes]
rs72902001	0.82[EUR][1000 genomes]
rs7563629	0.81[EUR][1000 genomes]
rs7586292	0.83[EUR][1000 genomes]
rs7593451	0.83[EUR][1000 genomes]
rs7606908	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs918229	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007052	chr2:186441382-186864390	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv584019	chr2:186445393-186866874	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1009118	chr2:186450293-186864390	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1008230	chr2:186474069-186818718	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv536076	chr2:186474069-186818718	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv584020	chr2:186475590-186661567	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv584021	chr2:186475590-186866841	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv1796337	chr2:186618494-186704965	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv1797599	chr2:186618494-186882821	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv817325	chr2:186625679-187200841	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11682752	PART1	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186606800-186632000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:186613600-186635000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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