Variant report

Variant	rs2553750
Chromosome Location	chr11:108764663-108764664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10502103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11212824	0.87[ASN][1000 genomes]
rs11828110	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12574567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12574721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12574758	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12575278	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12577382	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12577980	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12785398	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12785439	0.86[ASN][1000 genomes]
rs12794048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12794597	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12795663	0.88[AMR][1000 genomes]
rs12796331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12800516	0.83[AMR][1000 genomes]
rs12801974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12802313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12803616	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12808060	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12808674	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1365047	0.85[CHB][hapmap]
rs1462787	0.88[ASN][1000 genomes]
rs17108571	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17108579	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17108608	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17108703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17108744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2061681	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2553749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553751	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2553754	0.85[CHB][hapmap]
rs2553757	0.85[CHB][hapmap]
rs2553758	0.81[ASN][1000 genomes]
rs2553760	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs2553761	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs2615727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2615756	0.94[CHB][hapmap];0.94[ASN][1000 genomes]
rs2726885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2726896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726910	0.85[CHB][hapmap]
rs2726911	0.85[CHB][hapmap]
rs2726913	0.85[CHB][hapmap]
rs2726914	0.85[CHB][hapmap]
rs2726916	0.85[CHB][hapmap]
rs2726919	0.85[CHB][hapmap]
rs2726920	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs28736339	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34138098	0.82[AMR][1000 genomes]
rs34180595	0.81[ASN][1000 genomes]
rs34350110	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34354308	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34363971	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34451436	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34593113	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34651663	0.84[ASN][1000 genomes]
rs34805458	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34848528	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34942750	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35085871	0.82[AMR][1000 genomes]
rs35244070	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35430545	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35517426	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35754206	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35756735	0.85[ASN][1000 genomes]
rs36006135	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36034048	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36043878	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4317954	0.92[CEU][hapmap];0.91[CHB][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57014838	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57484308	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71489916	0.81[ASN][1000 genomes]
rs71489918	0.81[ASN][1000 genomes]
rs71489919	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71489922	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71489925	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71489928	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71489929	0.87[ASN][1000 genomes]
rs7930675	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs898972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs970162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs970164	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv2761707	chr11:108763836-108772204	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108726200-108768400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:108728400-108810600	Weak transcription	Left Ventricle	heart
3	chr11:108757800-108766400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:108757800-108766800	Weak transcription	Stomach Mucosa	stomach
5	chr11:108758400-108766800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:108758600-108766400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:108759400-108766000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:108759600-108766400	Weak transcription	Osteobl	bone
9	chr11:108760800-108767800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:108761800-108765000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:108761800-108766000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:108761800-108766400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:108761800-108767000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:108762000-108766000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:108762000-108767800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:108762400-108765800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:108763000-108766000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:108763000-108797600	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:108763200-108764800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:108763200-108764800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:108763200-108764800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:108764400-108765400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:108764600-108765000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr11:108764600-108765800	Enhancers	A549	lung

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