Variant report

Variant	rs71489928
Chromosome Location	chr11:108772251-108772252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10502103	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11212824	0.89[ASN][1000 genomes]
rs11828110	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12574721	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12574758	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12575278	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12577382	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12577980	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12785398	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12785439	0.82[ASN][1000 genomes]
rs12794048	0.85[AMR][1000 genomes]
rs12794597	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12795663	0.81[AMR][1000 genomes]
rs12796331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12801974	0.85[AMR][1000 genomes]
rs12802313	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12803616	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12808060	0.83[AMR][1000 genomes]
rs12808674	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1462787	0.84[ASN][1000 genomes]
rs17108571	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17108579	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17108608	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17108703	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17108744	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2061681	0.82[ASN][1000 genomes]
rs2553749	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2553750	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2553751	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2615727	0.82[ASN][1000 genomes]
rs2615756	0.89[ASN][1000 genomes]
rs2726885	0.84[ASN][1000 genomes]
rs2726896	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28736339	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34350110	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34354308	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34363971	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34451436	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34593113	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34651663	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs34805458	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34848528	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34942750	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35244070	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35430545	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35517426	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35754206	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35756735	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs36006135	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36034048	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36043878	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4317954	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57014838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57484308	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71489918	0.95[AMR][1000 genomes]
rs71489919	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71489922	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71489925	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71489929	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7930675	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs898972	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108728400-108810600	Weak transcription	Left Ventricle	heart
2	chr11:108763000-108797600	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:108766600-108775600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:108767000-108777200	Weak transcription	Adipose Nuclei	Adipose
5	chr11:108767600-108777000	Weak transcription	HSMM	muscle
6	chr11:108768000-108776400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:108768000-108810600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:108768200-108776400	Weak transcription	NHEK	skin
9	chr11:108768200-108777000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:108768200-108779800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:108768400-108772400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:108768400-108772600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:108768400-108773000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:108768600-108776200	Weak transcription	NH-A	brain
15	chr11:108769000-108791200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:108769200-108777000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:108769200-108777000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:108769200-108788600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr11:108769400-108772800	Weak transcription	A549	lung
20	chr11:108769400-108780800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:108769800-108772800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:108769800-108776400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:108769800-108776400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:108769800-108789600	Weak transcription	Primary B cells from cord blood	blood
25	chr11:108771000-108772800	Weak transcription	Fetal Heart	heart
26	chr11:108771200-108774800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:108771400-108775400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:108771800-108772800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:108771800-108773800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:108772000-108773400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:108772000-108773400	Enhancers	HepG2	liver
32	chr11:108772200-108773000	Enhancers	Fetal Intestine Small	intestine

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