Variant report

Variant	rs750995
Chromosome Location	chr11:45479444-45479445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10769148	0.95[ASN][1000 genomes]
rs10769149	0.95[ASN][1000 genomes]
rs10769153	0.87[ASN][1000 genomes]
rs10838477	0.82[ASN][1000 genomes]
rs11038480	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1157786	0.94[ASN][1000 genomes]
rs12418768	0.96[ASN][1000 genomes]
rs12422148	0.99[ASN][1000 genomes]
rs1488667	0.96[ASN][1000 genomes]
rs1530869	0.99[ASN][1000 genomes]
rs1565222	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17195431	1.00[ASN][1000 genomes]
rs17788407	0.96[ASN][1000 genomes]
rs1825934	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046734	0.96[ASN][1000 genomes]
rs2198151	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2198153	0.99[ASN][1000 genomes]
rs2863700	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4755988	0.95[ASN][1000 genomes]
rs4755992	0.96[ASN][1000 genomes]
rs4755993	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4755995	0.87[ASN][1000 genomes]
rs4755996	0.85[ASN][1000 genomes]
rs55713403	1.00[ASN][1000 genomes]
rs56681627	0.99[ASN][1000 genomes]
rs7115683	0.90[ASN][1000 genomes]
rs7925329	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7931481	0.99[ASN][1000 genomes]
rs7931858	0.99[ASN][1000 genomes]
rs7934345	0.97[ASN][1000 genomes]
rs896338	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs901900	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9787760	0.96[ASN][1000 genomes]
rs9787814	0.99[ASN][1000 genomes]
rs996122	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045831	chr11:45419113-45580407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1049520	chr11:45430802-45494235	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv541026	chr11:45430802-45494235	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv1050657	chr11:45455431-45484320	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv1035430	chr11:45455431-45487231	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv1035254	chr11:45457183-45487231	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv1053919	chr11:45457920-45506491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv541027	chr11:45457920-45506491	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45478200-45479600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:45478400-45483200	Weak transcription	Right Atrium	heart
3	chr11:45478600-45480200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:45478600-45480400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:45478600-45485000	Weak transcription	Pancreas	Pancrea
6	chr11:45478800-45479800	Enhancers	Placenta	Placenta
7	chr11:45478800-45480000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr11:45478800-45480400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:45479000-45479600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:45479000-45479600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:45479000-45479600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:45479000-45480000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:45479000-45480200	Enhancers	HMEC	breast
14	chr11:45479200-45479600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr11:45479200-45480000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:45479200-45480200	Enhancers	Osteobl	bone
17	chr11:45479400-45480200	Weak transcription	Fetal Lung	lung
18	chr11:45479400-45480400	Enhancers	Spleen	Spleen

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